1. Gene
  2. REL - REL proto-oncogene, NF-kB subunit Gene

REL - REL proto-oncogene, NF-kB subunit Gene

Homo sapiens

Also known as C-Rel; IMD92; HIVEN86A

Gene ID: 5966 | Gene type: protein coding

About REL

Cytogenetic location: 2p16.1 Genomic coordinates (GRCh38): 2:60,881,574-60,931,612 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues, 4 paralogues and is associated with 80 phenotypes. Ubiquitous expression in bone marrow (RPKM 13.2), appendix (RPKM 8.6) and 25 other tissues.

Summary

This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in Apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

REL Products(4)

mRNA Protein Name
XM_017004627.3 XP_016860116.1 proto-oncogene c-Rel isoform X1
XM_011533010.4 XP_011531312.1 proto-oncogene c-Rel isoform X2
NM_002908.4 NP_002899.1 proto-oncogene c-Rel isoform 1
NM_001291746.2 NP_001278675.1 proto-oncogene c-Rel isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
1406630 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
1406630 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10498867 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of gene expression IDA
IDA: Inferred from direct assay
22065573 GOA
involved in negative regulation of interferon-beta production IDA
IDA: Inferred from direct assay
22065573 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IEP
IEP: Inferred from expression pattern
12761501 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
1406630 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IMP
IMP: Inferred from mutant phenotype
22065573 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

REL Protein Structure

RHD_DNA_bind

RHD_DNA_bind: Rel homology DNA-binding domain (10 - 178)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 619 a.a.
Protein Preferred Names Protein Names

proto-oncogene c-Rel

oncogene REL, avian reticuloendotheliosis

v-rel avian reticuloendotheliosis viral oncogene homolog

Related Diseases

Diseases Alias
Dermatitis, Atopic

Atopic Dermatitis

Atopic Eczema

Dermatitis, Atopic, Susceptibility To, 1

Atod

Eczema, Atopic

Dermatitis, Atopic 1

Allergic Dermatitis

Atopic Neurodermatitis

Besnier'S Prurigo

Dermatitis, Atopic, 1

Dermatitis Atopic

Eczema

Besnier Prurigo

Peroxisome Biogenesis Disorder 11a

PBD11A

Peroxisome Biogenesis Disorder Complementation Group 13

PBD-CG13

Cg13

Pbd-Cgh

Peroxisome Biogenesis Disorder Complementation Group H

Peroxisome Biogenesis Disorder, Type 11a

Peroxisome Biogenesis Disorder, Complementation Group 13

Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma

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

Immunodeficiency 92

IMD92

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Lymphoma, Hodgkin, Classic

Hodgkin Lymphoma

Hodgkin Disease

Hodgkin'S Lymphoma

Hodgkins Lymphoma

Classic Hodgkin Lymphoma

CHL

Hodgkin Lymphoma, Susceptibility To

Hl

Hodgkin'S Sarcoma

Stage I Subdiaphragmatic Hodgkin Lymphoma

Stage Ii Subdiaphragmatic Hodgkin Lymphoma

Lymphoma, Hodgkin'S

Classic Hodgkin Disease

Hodgkin'S Disease

Lymphoma, Hodgkin, Susceptibility To

Hodgkin'S Disease Of Intrapelvic Lymph Nodes

Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb

Malignant Lymphogranuloma

Malignant Lymphogranulomatosis

Malignant Hodgkin Lymphoma

Classical Hodgkin Lymphoma, Type Not Specified

Colitis
Ethmoid Sinus Adenocarcinoma

Adenocarcinoma Of Ethmoid Sinus

Adenocarcinoma Of The Ethmoid Sinus

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency Disease

Primary Immunodeficiency

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Ulcerative Colitis

Colitis Gravis

Left Sided Ulcerative Colitis

Left-Sided Ulcerative Colitis

Idiopathic Proctocolitis

Inflammatory Bowel Disease, Ulcerative Colitis Type

Uc

Colitis Ulcerative

Colitis, Ulcerative

Chronic Left-Sided Ulcerative Colitis

Uc - [Ulcerative Colitis]

Chronic Ulcerative Enteritis

Mucosal Proctocolitis

Ulcerative Mucosal Proctocolitis

Left Hemicolitis

Alzheimer Disease 7

Ad7

Alzheimer'S Disease 7

Alzheimer Disease, Familial, 7

Alzheimer Disease-7

Alzheimer Disease, Familial 7

Follicular Lymphoma

Lymphoma, Follicular

Lymphoma Follicular

Brill-Symmers' Disease

Large Cell Follicular Non-Hodgkin Lymphoma

Diffuse Follicle Centre Lymphoma

Diffuse Follicular Lymphoma Nos

Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

Follicular Large Cell Cleaved Or Noncleaved Lymphoma

Large Cell Follicular Noncleaved Lymphoma

Follicular Lymphoma With Or Without Diffuse Areas

Histiocytic Follicular Lymphoma

Histiocytic Nodular Lymphoma

Histiocytic Nodular Malignant Lymphoma

Large Cell Follicular Lymphoma

Large Cell Noncleaved Follicular Lymphoma

Large Cell Noncleaved Follicular Malignant Lymphoma

Nodular Reticulum Cell Sarcoma

Noncleaved Follicular Lymphoma

Hypersplenism

Hypersplenia

Big Spleen Syndrome

Hyperfunction Of Spleen

Increased Splenic Activity

Spleen Metaplasia

Splenic Metaplasia

Primary Mediastinal B-Cell Lymphoma

Large Cell Lymphoma Of The Mediastinum

Mediastinal Diffuse Large-Cell Lymphoma With Sclerosis

Primary Mediastinal Clear Cell Lymphoma Of B-Cell Type

Internal Hordeolum
Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Reticuloendotheliosis, X-Linked

Reticuloendotheliosis

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

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

Renal Pelvis Transitional Cell Carcinoma

Urothelial Cell Carcinoma Of Renal Pelvis

Renal Pelvis Urothelial Carcinoma

Transitional Cell Carcinoma Of Renal Pelvis

Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Inhibited Male Orgasm

Male Orgasmic Disorder

Psychosexual Dysfunction With Male Orgasmic Disorder

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
Macaca mulatta REL VGNC VGNC:76892
Mus musculus REL MGD MGI:97897
Felis catus REL VGNC VGNC:69282
Canis familiaris REL VGNC VGNC:45465
Bos taurus REL VGNC VGNC:33857
Rattus norvegicus REL RGD RGD:1311231
Macaca fascicularis REL NCBI NCBI:102116653
Canis lupus familiaris REL NCBI
Others REL NCBI