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  2. KMT2E - lysine methyltransferase 2E (inactive) Gene

KMT2E - lysine methyltransferase 2E (inactive) Gene

中文名称:赖氨酸甲基转移酶 2E (无活性)

种属: Homo sapiens

同用名: MLL5; NKp44L; ODLURO; SETD5B; HDCMC04P

基因 ID: 55904 | 基因类型: protein coding

关于 KMT2E

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:105,014,205-105,115,019 (from NCBI)

This gene has 23 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 19.1), endometrium (RPKM 16.5) and 25 other tissues.

功能概要

该基因是骨髓/淋巴细胞或混合谱系白血病 (MLL) 家族的成员,编码一种具有 N 末端 PHD 锌指和中央 SET 结构域的蛋白质。蛋白质的过度表达会抑制细胞周期进程。已经表征了替代转录剪接变体。[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 protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

KMT2E 基因产物(3)

mRNA Protein Name
NM_001410908.1 NP_001397837.1 inactive histone-lysine N-methyltransferase 2E isoform b
NM_018682.4 NP_061152.3 inactive histone-lysine N-methyltransferase 2E isoform a
NM_182931.3 NP_891847.1 inactive histone-lysine N-methyltransferase 2E isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
23629655 GOA
NOT enables histone H3 methyltransferase activity IDA
IDA: 通过直接分析推断
27812132 GOA
enables methylated histone binding IDA
IDA: 通过直接分析推断
24130829 GOA
enables methylated histone binding IMP
IMP: 通过突变表型推断
23798402 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21423215 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
23629655 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
23629655 GOA
involved in positive regulation of G1/S transition of mitotic cell cycle IMP
IMP: 通过突变表型推断
23629655 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
23798402 GOA
located in euchromatin IDA
IDA: 通过直接分析推断
23798402 GOA
located in nucleus IDA
IDA: 通过直接分析推断
23629655 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23629655 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

KMT2E 蛋白结构

PHD

PHD: PHD-finger (120 - 165)

SET

SET: SET domain (346 - 444)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1858 a.a.
蛋白主名 其他名称

inactive histone-lysine N-methyltransferase 2E

histone-lysine N-methyltransferase 2E

KMT2E 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
种属内
KMT2E Q8IZD2 TP53 Homo sapiens P04637 21423215
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
O'Donnell-Luria-Rodan Syndrome

ODLURO

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies

NEDDFL

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2

Alternating Exotropia

Exotropia

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

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

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
Canis familiaris KMT2E VGNC VGNC:42492
Bos taurus KMT2E VGNC VGNC:30694
Mus musculus KMT2E MGD MGI:1924825
Macaca mulatta KMT2E VGNC VGNC:74073
Rattus norvegicus KMT2E RGD RGD:1309641
Felis catus KMT2E VGNC VGNC:63162