KMT2C - lysine methyltransferase 2C Gene

Homo sapiens

Also known as HALR; MLL3; KLEFS2

Gene ID: 58508 | Gene type: protein coding

About KMT2C

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:152,134,925-152,436,003 (from NCBI)

This gene has 70 transcripts (splice variants), 239 orthologues, 19 paralogues and is associated with 188 phenotypes. Ubiquitous expression in thyroid (RPKM 8.7), bone marrow (RPKM 8.5) and 25 other tissues.

Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]

KMT2C Products(1)

mRNA	Protein	Name
NM_170606.3	NP_733751.2	histone-lysine N-methyltransferase 2C

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone H3K4 methyltransferase activity	IDA IDA: Inferred from direct assay	17500065	GOA
enables histone methyltransferase activity	IDA IDA: Inferred from direct assay	22266653	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12482968	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MLL3/4 complex	IDA IDA: Inferred from direct assay	17500065	GOA
part of MLL3/4 complex	IPI IPI: Inferred from physical interaction	23508102	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	17500065	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17500065	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

KMT2C Protein Structure

zf-HC5HC2H

PHD

zf-HC5HC2H

FYRN

FYRC

SET

0
800
1600
2400
3200
4000
4911 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase 2C

ALR-like protein

Related Diseases

Diseases

Alias

Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2

Kleefstra Syndrome Due To A Point Mutation

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome	KLEFS1
Chromosome 9q34.3 Deletion Syndrome	9q- Syndrome
9q34 Deletion Syndrome	Kleefstra Syndrome Due To 9q34 Microdeletion
Kleefstra Syndrome	9q-Syndrome
9qstds	Kleefstra Syndrome Due To 9q Subtelomeric Deletion
Kleefstra Syndrome Due To Del(9)(Q34)	Kleefstra Syndrome Due To Monosomy 9q34
Chromosome 9q Subtelomeric Deletion Syndrome	Kleefstra Syndrome, Type 1

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome	9q Subtelomeric Deletion Syndrome
9q- Syndrome	Chromosome 9q Deletion Syndrome
9q34.3 Deletion Syndrome	9qstds
Chromosome 9q34.3 Deletion Syndrome	Chromosome 9, Trisomy 9q

Plasma Cell Neoplasm

Plasma Cell Dyscrasia	Paraproteinemias
Plasma Cell Tumour	Plasmacytic Tumor
Multiple Myeloma	Plasmacytoma
Plasma Cell Tumours	Plasma Cells Dyscrasia

Endocervical Adenocarcinoma

Endocervical Carcinoma

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Myeloma, Multiple

Multiple Myeloma	Plasma Cell Myeloma
Kahler Disease	Myelomatosis
Medullary Plasmacytoma	Multiple Myeloma, Resistance To
Myeloma	Plasma Cell Dyscrasia
Kahler'S Disease	Multiple Myeloma, Susceptibility To
Myeloma - Multiple	Kahler-Bozzolo Disease
Plasma Cell Myelomas	MM
Plasma Cell Neoplasm	Primary Systemic Amyloidosis
Primary Amyloidosis	Immunoglobulin Deposition Disease
Plasmacytic Myeloma	Multiple Myelomata
Multiple Myeloma Nos	Multiple Myeloma Without Mention Of Remission
Monostotic Plasma Cell Myeloma	Mm - [Multiple Myeloma]

Uterine Corpus Endometrial Carcinoma

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

Cervical Squamous Cell Carcinoma

Squamous Cell Carcinoma Of The Cervix Uteri

Squamous Cell Carcinoma Of Cervix

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

Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5	CILD5
Ciliary Dyskinesia, Primary, 5, Without Situs Inversus	Primary Ciliary Dyskinesia 5 Without Situs Inversus
Ics5	Immotile Cilia Syndrome 5
Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus	Dyskinesia, Ciliary, Primary, Type 5

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

Failure Of Tooth Eruption, Primary

Primary Failure Of Tooth Eruption	PFE
Primary Retention Of Teeth	Unerupted Second Primary Molar
Dental Noneruption	Familial Posterior Openbite Malocclusion
Primary Failure Of Tooth Eruption, Nonsyndromic	Posterior Openbite Malocclusion, Familial
Nonsyndromic Primary Failure Of Eruption	Dental Non-Eruption
Non-Syndromic Primary Failure Of Eruption	Tooth Eruption, Failure, Primary

Breast Juvenile Papillomatosis

Juvenile Papillomatosis Of The Breast

Autosomal Dominant Intellectual Developmental Disorder 31

Autosomal Dominant Non-Syndromic Intellectual Disability 31	Autosomal Dominant Mental Retardation 31
Mrd31

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy	Foamy Myocardial Transformation Of Infancy
Infantile Histiocytoid Cardiomyopathy	Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy	Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy, Focal Lipid	Cardiomyopathy, Oncocytic
Focal Lipid Cardiomyopathy	Infantile Cardiomyopathy With Histiocytoid Change
CMIH	Cardiomyopathy Focal Lipid
Cardiomyopathy Infantile Xanthomatous	Cardiomyopathy Oncocytic

Anus Basaloid Carcinoma

Basaloid Carcinoma Of The Anus

Anal Basaloid Carcinoma

Weaver Syndrome

Wss	Weaver-Smith Syndrome
WVS	Weaver-Like Syndrome
Weaver-Williams Syndrome	Camptodactyly-Overgrowth-Unusual Facies Syndrome
Camptodactyly - Overgrowth - Unusual Facies	Ezh2 Related Overgrowth
Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly	Weaver Smith Syndrome
Weaver Like Syndrome	Weaver Williams Syndrome
Camptodactyly-Overgrowth-Unusual Facies	Weaver Syndrome 1
Weaver Syndrome 2	Wvs1
Wvs2

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

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
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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07403	KMT2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	KMT2C	MGD	MGI:2444959
Canis familiaris	KMT2C	VGNC	VGNC:42490
Felis catus	KMT2C	VGNC	VGNC:80606
Rattus norvegicus	KMT2C	RGD	RGD:1587205
Macaca mulatta	KMT2C	VGNC	VGNC:74043
Bos taurus	KMT2C	VGNC	VGNC:30692
Others	KMT2C	NCBI

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