KMT2C - lysine methyltransferase 2C Gene

Also Known as HALR; MLL3; KLEFS2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 58508

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	References	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	References	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

KMT2C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KMT2C	Q8NEZ4	ASH2L	Homo sapiens	Q9UBL3-3	GMS	26886794
Intra	KMT2C	Q8NEZ4	ASH2L	Homo sapiens	Q9UBL3-3	Pull Down	26886794
Intra	KMT2C	Q8NEZ4	ASH2L	Homo sapiens	Q9UBL3-3	X-Ray Diffraction	26886794
Intra	KMT2C	Q8NEZ4	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17500065
Intra	KMT2C	Q8NEZ4	NCOA6	Homo sapiens	Q14686	Anti Bait CoIP	12482968
Intra	KMT2C	Q8NEZ4	NCOA6	Homo sapiens	Q14686	Anti Bait CoIP	17021013

Cross: Cross-species interaction Intra: Intraspecies interaction

KMT2C Antibodies

Cat. No.	상품명	신청	Reactivity
HY-P84677	KMT2C Antibody (YA4374)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84677A	KMT2C Antibody (YA4374)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS07403	KMT2C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26552	Kmt2c Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20048	Kmt2c Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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