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

SET

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	Anti Tag CoIP	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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07405	KMT2E Human Pre-designed siRNA Set A	Pre-designed Set	/	否

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

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