ELP2 - elongator acetyltransferase complex subunit 2 Gene

中文名称：延伸乙酰转移酶复合亚基 2

种属: Homo sapiens

同用名: StIP; MRT58; SHINC-2; STATIP1

基因 ID: 55250 | 基因类型: protein coding

关于 ELP2

Cytogenetic location: 18q12.2 Genomic coordinates (GRCh38): 18:36,129,899-36,180,557 (from NCBI)

This gene has 28 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 15.2), endometrium (RPKM 11.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质是延伸复合物的核心亚基，延伸复合物是一种与 RNA 聚合酶 II 结合的组蛋白乙酰转移酶复合物。除了组蛋白乙酰化外，编码的蛋白质还会影响转录延伸，并可能有助于重塑染色质。[RefSeq 提供，2016 年 5 月]

The protein encoded by this gene is a core subunit of the elongator complex, a Histone Acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

ELP2 基因产物(10)

mRNA	Protein	Name
NM_001242875.3	NP_001229804.1	elongator complex protein 2 isoform 1
NM_001242876.3	NP_001229805.1	elongator complex protein 2 isoform 3
NM_001242877.3	NP_001229806.1	elongator complex protein 2 isoform 4
NM_001242878.3	NP_001229807.1	elongator complex protein 2 isoform 5
NM_001242879.3	NP_001229808.1	elongator complex protein 2 isoform 6
NM_001324465.2	NP_001311394.1	elongator complex protein 2 isoform 7
NM_001324466.2	NP_001311395.1	elongator complex protein 2 isoform 8
NM_001324467.2	NP_001311396.1	elongator complex protein 2 isoform 9
NM_001324468.2	NP_001311397.1	elongator complex protein 2 isoform 10 precursor
NM_018255.4	NP_060725.1	elongator complex protein 2 isoform 2

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
contributes to RNA polymerase II complex binding	IDA IDA: 通过直接分析推断	11714725	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of elongator holoenzyme complex	IDA IDA: 通过直接分析推断	22854966	GOA
part of elongator holoenzyme complex	IPI IPI: 通过物理相互作用推断	22854966	GOA
part of transcription elongation factor complex	IDA IDA: 通过直接分析推断	11714725	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

ELP2 蛋白结构

WD40

0
200
400
600
826 a.a.

蛋白主名

其他名称

elongator complex protein 2

STAT3-interacting protein 1

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, Autosomal Recessive 58

MRT58	Mental Retardation, Autosomal Recessive 58
Autosomal Recessive Intellectual Developmental Disorder 58	Mental Retardation, Autosomal Recessive, Type 58

Autosomal Recessive Intellectual Disability 58

Intellectual Disability, Autosomal Recessive 58	Elp2-Related Disorder
Elp2-Related Disorders

Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia	Riley-Day Syndrome
Dysautonomia, Familial	HSAN3
Hsan Iii	Fd
Hereditary Sensory And Autonomic Neuropathy Type Iii	Dys
Hereditary Sensory And Autonomic Neuropathy 3	Riley Day Syndrome
Familial Autonomic Nervous Dysfunction	Hereditary Sensory Autonomic Neuropathy Type Iii
Hsan 3	Hsn 3
Hereditary Sensory Neuropathy Type 3	Hsan Type Iii
Hsn-Iii	Hereditary Sensory And Autonomic Neuropathy Type 3
Neuropathy, Hereditary Sensory And Autonomic, 3	Hsn Iii
Dysautonomia Familial	Neuropathy, Sensory And Autonomic, Hereditary, Type Iii
Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]

Spastic Diplegia

Diplegic Infantile Cerebral Palsy	Little'S Disease
Cerebral Palsy	Cerebral Spastic Infantile Paralysis
Infantile Diplegic Cerebral Palsy	Infantile Spastic Cerebral Palsy
Littles Disease	Spastic Cerebral Palsy

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic	Infantile Hemiplegia Nos
Postnatal Infantile Hemiplegia Nos	Congenital Spastic Hemiplegia
Spastic Hemiplegic Cerebral Palsy	Congenital Hemiplegia Nos
Hemiplegic Cerebral Palsy	Hemiplegic Infantile Cerebral Palsy

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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-RS04329	ELP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ELP2	RGD	RGD:1306419
Mus musculus	ELP2	MGD	MGI:1889642
Canis familiaris	ELP2	VGNC	VGNC:40327
Bos taurus	ELP2	VGNC	VGNC:28455
Macaca mulatta	ELP2	VGNC	VGNC:72069
Felis catus	ELP2	VGNC	VGNC:61826

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站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ELP2 - elongator acetyltransferase complex subunit 2 Gene

关于 ELP2

功能概要

ELP2 基因产物(10)

ELP2 蛋白结构

关联疾病

直系同源

热门区域

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ELP2 - elongator acetyltransferase complex subunit 2 Gene

关于 ELP2

功能概要

ELP2 基因产物(10)

ELP2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z