1. Gene
  2. EP300 - E1A binding protein p300 Gene

EP300 - E1A binding protein p300 Gene

Homo sapiens

Also known as p300; KAT3B; MKHK2; RSTS2

Gene ID: 2033 | Gene type: protein coding

About EP300

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:41,092,592-41,180,077 (from NCBI)

This gene has 14 transcripts (splice variants), 286 orthologues, 1 paralogue and is associated with 165 phenotypes. Ubiquitous expression in bone marrow (RPKM 27.3), testis (RPKM 17.5) and 25 other tissues.

Summary

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as Histone Acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial Cancer. [provided by RefSeq, Jul 2008]

EP300 Products(2)

mRNA Protein Name
NM_001362843.2 NP_001349772.1 histone acetyltransferase p300 isoform 2
NM_001429.4 NP_001420.2 histone acetyltransferase p300 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
9194565 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
15261140 GOA
enables NF-kappaB binding IPI
IPI: Inferred from physical interaction
23811396 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
20018936 GOA
enables STAT family protein binding IPI
IPI: Inferred from physical interaction
26479788 GOA
enables acetylation-dependent protein binding IDA
IDA: Inferred from direct assay
18782771 GOA
enables acetyltransferase activity EXP
EXP: Inferred from Experiment
12456660 GOA
enables acetyltransferase activity IDA
IDA: Inferred from direct assay
18722353 GOA
enables acetyltransferase activity IMP
IMP: Inferred from mutant phenotype
12435739 GOA
enables acyltransferase activity IDA
IDA: Inferred from direct assay
17403783 GOA
enables beta-catenin binding IPI
IPI: Inferred from physical interaction
12408825 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
24939902 GOA
enables chromatin binding IMP
IMP: Inferred from mutant phenotype
17641689 GOA
enables damaged DNA binding IDA
IDA: Inferred from direct assay
24939902 GOA
enables histone H2B acetyltransferase activity IDA
IDA: Inferred from direct assay
10821277 GOA
enables histone H3 acetyltransferase activity IDA
IDA: Inferred from direct assay
12609999 GOA
enables histone H3K122 acetyltransferase activity IDA
IDA: Inferred from direct assay
23415232 GOA
enables histone H3K18 acetyltransferase activity IDA
IDA: Inferred from direct assay
21131905 GOA
enables histone H3K27 acetyltransferase activity IDA
IDA: Inferred from direct assay
21131905 GOA
enables histone H3K27 acetyltransferase activity IMP
IMP: Inferred from mutant phenotype
32691935 GOA
enables histone H4 acetyltransferase activity IDA
IDA: Inferred from direct assay
10821277 GOA
enables histone H4 acetyltransferase activity IMP
IMP: Inferred from mutant phenotype
16325578 GOA
enables histone acetyltransferase activity IDA
IDA: Inferred from direct assay
12040021 GOA
enables histone crotonyltransferase activity IDA
IDA: Inferred from direct assay
25818647 GOA
enables histone lactyltransferase (CoA-dependent) activity IDA
IDA: Inferred from direct assay
31645732 GOA
enables lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IDA
IDA: Inferred from direct assay
20019387 GOA
enables nuclear androgen receptor binding IPI
IPI: Inferred from physical interaction
18487222 GOA
enables nuclear receptor binding IPI
IPI: Inferred from physical interaction
9862959 GOA
enables peptide butyryltransferase activity IDA
IDA: Inferred from direct assay
17267393 GOA
enables peptide-lysine-N-acetyltransferase activity IDA
IDA: Inferred from direct assay
15653507 GOA
enables protein binding IDA
IDA: Inferred from direct assay
17150957 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
1331501 GOA
enables protein propionyltransferase activity IDA
IDA: Inferred from direct assay
17267393 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
10518217 GOA
enables transcription coactivator activity IMP
IMP: Inferred from mutant phenotype
11349124 GOA
enables transcription coactivator activity IPI
IPI: Inferred from physical interaction
23811396 GOA
enables transcription coactivator binding IPI
IPI: Inferred from physical interaction
11349124 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
8684459 GOA
Biological Process GO Annotation Evidence Reference Source
involved in N-terminal peptidyl-lysine acetylation IDA
IDA: Inferred from direct assay
12435739 GOA
involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
9194565 GOA
involved in canonical NF-kappaB signal transduction IDA
IDA: Inferred from direct assay
23811396 GOA
involved in cellular response to L-leucine IDA
IDA: Inferred from direct assay
30197302 GOA
involved in cellular response to UV IDA
IDA: Inferred from direct assay
24939902 GOA
involved in cellular response to nutrient levels IDA
IDA: Inferred from direct assay
32561715 GOA
involved in internal peptidyl-lysine acetylation IDA
IDA: Inferred from direct assay
17403783 GOA
involved in internal protein amino acid acetylation IDA
IDA: Inferred from direct assay
18722353 GOA
involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IDA
IDA: Inferred from direct assay
17403783 GOA
involved in negative regulation of autophagy IDA
IDA: Inferred from direct assay
32561715 GOA
involved in negative regulation of gluconeogenesis IDA
IDA: Inferred from direct assay
30193097 GOA
involved in negative regulation of protein-containing complex assembly IDA
IDA: Inferred from direct assay
23962722 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
10733570 GOA
involved in peptidyl-lysine acetylation IDA
IDA: Inferred from direct assay
23962722 GOA
involved in peptidyl-lysine butyrylation IDA
IDA: Inferred from direct assay
17267393 GOA
involved in peptidyl-lysine crotonylation IDA
IDA: Inferred from direct assay
25818647 GOA
involved in peptidyl-lysine propionylation IDA
IDA: Inferred from direct assay
17267393 GOA
involved in positive regulation by host of viral transcription IDA
IDA: Inferred from direct assay
16687403 GOA
involved in positive regulation of DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
25818647 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15261140 GOA
involved in positive regulation of T-helper 17 cell lineage commitment IDA
IDA: Inferred from direct assay
28262505 GOA
involved in positive regulation of TORC1 signaling IDA
IDA: Inferred from direct assay
30197302 GOA
involved in positive regulation of neuron projection development IDA
IDA: Inferred from direct assay
27256286 GOA
involved in positive regulation of protein import into nucleus IDA
IDA: Inferred from direct assay
24120661 GOA
involved in positive regulation of receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
16257975 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
12586840 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
16325578 GOA
involved in positive regulation of transforming growth factor beta receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
25514493 GOA
involved in protein acetylation IDA
IDA: Inferred from direct assay
21030595 GOA
involved in protein destabilization IMP
IMP: Inferred from mutant phenotype
24939902 GOA
involved in regulation of androgen receptor signaling pathway IDA
IDA: Inferred from direct assay
18487222 GOA
involved in regulation of glycolytic process IDA
IDA: Inferred from direct assay
29775581 GOA
involved in regulation of tubulin deacetylation IDA
IDA: Inferred from direct assay
18722353 GOA
involved in response to estrogen IDA
IDA: Inferred from direct assay
11581164 GOA
involved in response to hypoxia IDA
IDA: Inferred from direct assay
9887100 GOA
involved in transcription initiation-coupled chromatin remodeling IDA
IDA: Inferred from direct assay
25818647 GOA
Cellular Component GO Annotation Evidence Reference Source
located in chromatin IDA
IDA: Inferred from direct assay
21084751 GOA
is active in cytoplasm IDA
IDA: Inferred from direct assay
12929931 GOA
is active in cytosol IDA
IDA: Inferred from direct assay
12929931 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9194565 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EP300 Protein Structure

zf-TAZ

zf-TAZ: TAZ zinc finger (337 - 416)

KIX

KIX: KIX domain (567 - 646)

Bromodomain

Bromodomain: Bromodomain (1068 - 1143)

DUF902

DUF902: Domain of Unknown Function (DUF902) (1155 - 1196)

HAT_KAT11

HAT_KAT11: Histone acetylation protein (1307 - 1604)

ZZ

ZZ: Zinc finger, ZZ type (1665 - 1705)

zf-TAZ

zf-TAZ: TAZ zinc finger (1734 - 1806)

Creb_binding

Creb_binding: Creb binding (1990 - 2099)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2414 a.a.
Protein Preferred Names Protein Names

histone acetyltransferase p300

E1A-associated protein p300

E1A-binding protein, 300kD

histone butyryltransferase p300

histone crotonyltransferase p300

p300 HAT

protein 2-hydroxyisobutyryltransferase p300

protein lactyltransferas p300

protein propionyltransferase p300

Related Diseases

Diseases Alias
Rhabdomyosarcoma
Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Rubinstein-Taybi Syndrome 2

Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency

RSTS2

Rubinstein-Taybi Syndrome, Type 2

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Myeloid Leukemia

Myeloid Leukaemia

Leukaemia Myelogenous

Leukemia Myelogenous

Myeloid Granulocytic Leukaemia

Myeloid Granulocytic Leukemia

Non-Lymphocytic Leukemia

Leukemia, Myeloid

Granulocytic Leukaemia

Myelogenous Leukaemia

Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Hyperinsulinism

Hyperinsulinemia

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Head And Neck Cancer

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Cancer, Head/Neck

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Intellectual Developmental Disorder, Autosomal Dominant 4

MRD4

Autosomal Dominant Non-Syndromic Intellectual Disability 4

Mental Retardation, Autosomal Dominant 4

Autosomal Dominant Intellectual Developmental Disorder 4

Retinal Degeneration

Degeneration Of Retina

Prion Disease

Spongiform Encephalopathy

Transmissible Spongiform Encephalopathies

Prion Diseases

Prion Disease Pathway

Transmissible Spongiform Encephalopathy

Prion Induced Disorder

Prion Protein Disease

Inherited Human Transmissible Spongiform Encephalopathies

Prion Protein Diseases

Prion-Associated Disorders

Prion-Induced Disorders

Transmissible Dementias

Tses

Human Prion Disease

Tse

Encephalopathy, Transmissible Spongiform

Prion Disease, Susceptibility To

Spongiform Encephalopathies

Human Transmissible Spongiform Encephalopathies, Inherited

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31

Autosomal Dominant Mental Retardation 31

Mrd31

Mental Retardation, Autosomal Dominant, Type 31

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Klippel-Feil Syndrome 4
Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Autosomal Dominant Intellectual Developmental Disorder 19

Autosomal Dominant Non-Syndromic Intellectual Disability 19

Autosomal Dominant Mental Retardation 19

Mrd19

Rubinstein-Taybi Syndrome 1

Broad Thumb-Hallux Syndrome

Rubinstein-Taybi Syndrome Due To Crebbp Mutations

RSTS1

Rsts

Rubinstein Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rubinstein-Taybi Syndrome, Type 1

Rubinstein-Taybi Syndrome

Cornelia De Lange Syndrome 2

CDLS2

Cornelia De Lange Syndrome, X-Linked

Cdls, X-Linked

Cornelia De Lange Syndrome X-Linked

Cornelia De Lange Syndrome, Type 2

Congenital Muscular Hypertrophy-Cerebral Syndrome

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Desmoplastic Medulloblastoma

Medulloblastoma, Somatic

Medulloblastoma, Desmoplastic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Mben

Medulloblastoma Desmoplastic

Neuroectodermal Tumors, Primitive

Medulloblastomas

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Uterine Corpus Endometrial Carcinoma
Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rts

Bladder Urothelial Carcinoma

Bladder Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Bladder

Transitional Cell Carcinoma Of The Bladder

Urinary Bladder Urothelial Carcinoma

Urothelial Bladder Carcinoma

Carcinoma Transitional Cell Bladder

Tcc - [Transitional Cell Carcinoma] Of Bladder

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Bartholin'S Gland Adenoid Cystic Carcinoma

Bartholin Gland Adenoid Cystic Carcinoma

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

Primitive Neuroectodermal Tumor

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Ewing Family Of Tumors

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diabetes Mellitus

Diabetes

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Diabetes Mellitus, Non-Insulin-Dependent

Type 2 Diabetes

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder

Opsd

Fronto-Otopalatodigital Osteodysplasia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Otopalatodigital Syndrome, Type I

Otopalatodigital Syndrome Type 1

Taybi Syndrome

OPD1

Opd Syndrome 1

Oto-Palato-Digital Syndrome Type 1

Opd I Syndrome

Oto-Palato-Digital Syndrome, Type I

Otopalatodigital Syndrome Type I

Opd Syndrome

Cranioorodigital Syndrome

Faciopalatoosseous Syndrome

Fpo

Opd Syndrome, Type 1

Otopalatodigital Syndrome 1

Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs

Esophagus Carcinoma In Situ

Carcinoma In Situ Of Esophagus

Carcinoma In Situ Of Oesophagus

Oesophagus Carcinoma In Situ

Severe Esophageal Dysplasia

Stage 0 Carcinoma Of The Esophagus

Stage 0 Carcinoma Of The Oesophagus

Severe Oesophageal Dysplasia

Adult T-Cell Leukemia/Lymphoma

Adult T-Cell Leukemia

Atll

Adult T-Cell Leukaemia

Adult T-Cell Leukaemia/Lymphoma

Adult T-Cell Lymphoma

T Cell Leukemia Lymphoma Adult

Leukemia-Lymphoma, Adult T-Cell

Leukemia, T-Cell

Adult T-Cell Lymphoma/Leukemia

Cervical Cancer

Cervical Cancer, Somatic

Neoplasm Of Uterine Cervix

Cervix Cancer

Uterine Cervical Neoplasm

Cervical Neoplasm

Cervix Uteri Cancer

Tumor Of The Cervix Uteri

CERCA

Uterine Cervical Cancer

Neoplasms Cervical

Uterine Cervical Neoplasms

Cervical Cancers

Cancer, Cervical, Somatic

Malignant Tumor Of Cervix

Cervix Carcinoma

Leukemia, Acute Monocytic

Acute Monocytic Leukemia

Acute Monoblastic Leukemia And Acute Monocytic Leukemia

Acute Monocytic Leukaemia

Acute Monocytic Leukaemia Without Mention Of Remission

Acute Monocytic Leukemia Without Mention Of Remission

Acute Monocytic Leukemia, Fab M5

Acute Monocytic Leukemia, Morphology

Leukemia, Monocytic, Acute

M5b Acute Differentiated Monocytic Leukemia

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Endocervical Adenocarcinoma

Endocervical Carcinoma

Polydactyly, Postaxial, Type A1

Postaxial Polydactyly Type A

Polydactyly, Postaxial

Postaxial Polydactyly

PAPA1

Postaxial Polydactyly, Type A

Papa

Polydactyly, Postaxial, Types A1 And B

Postaxial Polydactyly Type B

Polydactyly Postaxial

Polydactyly, Postaxial A1

Polydactyly, Postaxial B

PAPB

Postaxial Polydactyly, Type A1/B

Polydactyly, Postaxial, Type A

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

Postaxial Polydactyly, Type B

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Rare Genetic Intellectual Disability
Chromosomal Deletion Syndrome
Flying Phobia
B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Menke-Hennekam Syndrome 2

MKHK2

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17

SCAR17

Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 17

Spinocerebellar Ataxia, Autosomal Recessive, 17

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Nut Midline Carcinoma

Nuclear Protein In Testis Midline Carcinoma

Nmc

Adenoid Cystic Carcinoma

Adenocystic Carcinoma

Cribriform Carcinoma

Cylindroma

Carcinoma Adenoid Cystic

Carcinoma, Adenoid Cystic

Adenoid Cystic Carcinoma Of Salivary Gland

Eccrine Dermal Cylindroma

Carcinoma, Cribriform

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Hematologic Cancer

Hematologic Neoplasm

Hematologic Malignancies

Hematologic Neoplasms

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome

Hennekam Lymphangiectasia-Lymphedema Syndrome

Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome

Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome

Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome

Lymphangiectasies And Lymphedema Hennekam Type

Generalized Lymphatic Dysplasia

Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Squamous Cell Skin Cancer

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Menke-Hennekam Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus EP300 VGNC VGNC:61889
Macaca mulatta EP300 VGNC VGNC:72228
Canis familiaris EP300 VGNC VGNC:84862
Rattus norvegicus EP300 RGD RGD:620036
Bos taurus EP300 VGNC VGNC:57349
Mus musculus EP300 MGD MGI:1276116
Others EP300 NCBI