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  2. KMT2C - lysine methyltransferase 2C Gene

KMT2C - lysine methyltransferase 2C Gene

中文名称:赖氨酸甲基转移酶 2C

种属: Homo sapiens

同用名: HALR; MLL3; KLEFS2

基因 ID: 58508 | 基因类型: protein coding

关于 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.

功能概要

该基因是髓细胞/淋巴细胞或混合谱系白血病 (MLL) 家族的成员,编码具有 AT 钩 DNA 结合结构域、DHHC 型锌指、六个 PHD 型锌指、SET 结构域的核蛋白, 一个后 SET 结构域和一个 RING 型锌指。该蛋白是 ASC-2/NCOA6 复合物 (ASCOM) 的成员,具有组蛋白甲基化活性并参与转录共激活。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_170606.3 NP_733751.2 histone-lysine N-methyltransferase 2C
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone H3K4 methyltransferase activity IDA
IDA: 通过直接分析推断
17500065 GOA
enables histone methyltransferase activity IDA
IDA: 通过直接分析推断
22266653 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12482968 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MLL3/4 complex IDA
IDA: 通过直接分析推断
17500065 GOA
part of MLL3/4 complex IPI
IPI: 通过物理相互作用推断
23508102 GOA
part of histone methyltransferase complex IDA
IDA: 通过直接分析推断
17500065 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17500065 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KMT2C 蛋白结构

zf-HC5HC2H

zf-HC5HC2H: PHD-like zinc-binding domain (252 - 330)

PHD

PHD: PHD-finger (390 - 437)

PHD

PHD: PHD-finger (1009 - 1055)

zf-HC5HC2H

zf-HC5HC2H: PHD-like zinc-binding domain (4429 - 4507)

FYRN

FYRN: F/Y-rich N-terminus (4550 - 4602)

FYRC

FYRC: F/Y rich C-terminus (4606 - 4693)

SET

SET: SET domain (4782 - 4886)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4911 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase 2C

ALR-like protein

KMT2C 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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