CHD4 - chromodomain helicase DNA binding protein 4 Gene

中文名称：染色体解旋酶 DNA 结合蛋白 4

种属: Homo sapiens

同用名: CHD-4; Mi-2b; SIHIWES; Mi2-BETA

基因 ID: 1108 | 基因类型: protein coding

关于 CHD4

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,570,082-6,607,379 (from NCBI)

This gene has 54 transcripts (splice variants), 279 orthologues, 30 paralogues and is associated with 99 phenotypes. Ubiquitous expression in thyroid (RPKM 37.2), endometrium (RPKM 27.5) and 25 other tissues.

功能概要

该基因的产物属于 SNF2/RAD54 解旋酶家族。它是核小体重塑和脱乙酰酶复合物的主要成分，在表观遗传转录抑制中起重要作用。皮肌炎患者会产生针对这种蛋白质的抗体。该基因的体细胞突变与浆液性子宫内膜肿瘤有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2014 年 7 月]

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop Antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

CHD4 基因产物(3)

mRNA	Protein	Name
NM_001273.5	NP_001264.2	chromodomain-helicase-DNA-binding protein 4 isoform 1
NM_001297553.2	NP_001284482.1	chromodomain-helicase-DNA-binding protein 4 isoform 2
NM_001363606.2	NP_001350535.1	chromodomain-helicase-DNA-binding protein 4 isoform 3

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 ATP hydrolysis activity	IDA IDA: 通过直接分析推断	28977666	GOA
enables ATP-dependent chromatin remodeler activity	IDA IDA: 通过直接分析推断	28977666	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	22926524	GOA
enables histone deacetylase binding	IPI IPI: 通过物理相互作用推断	27616479	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9804427	GOA
enables transcription coregulator binding	IPI IPI: 通过物理相互作用推断	29795351	GOA
enables transcription corepressor activity	IDA IDA: 通过直接分析推断	33859416	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chromatin remodeling	IDA IDA: 通过直接分析推断	9790534	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: 通过突变表型推断	25593309	GOA
involved in negative regulation of gene expression	IDA IDA: 通过直接分析推断	33859416	GOA
involved in negative regulation of gene expression	IGI IGI: 通过遗传相互作用推断	33301730	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of NuRD complex	IDA IDA: 通过直接分析推断	19644445	GOA
part of RNA polymerase II transcription regulator complex	IDA IDA: 通过直接分析推断	29795351	GOA
located in centrosome	IDA IDA: 通过直接分析推断	17626165	GOA
located in chromosome, telomeric region	IDA IDA: 通过直接分析推断	25150861	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	17626165	GOA
located in nucleoplasm	IDA IDA: 通过直接分析推断	22720776	GOA
located in nucleus	IDA IDA: 通过直接分析推断	28977666	GOA
located in site of DNA damage	IDA IDA: 通过直接分析推断	25593309	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

CHD4 蛋白结构

CHDNT

PHD

Chromo

SNF2_N

Helicase_C

DUF1087

DUF1086

CHDCT2

0
300
600
900
1200
1500
1800
1912 a.a.

蛋白主名

其他名称

chromodomain-helicase-DNA-binding protein 4

ATP-dependent helicase CHD4

CHD4 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	CHD4	Q14839	HDAC1	Homo sapiens	Q13547	Anti Tag CoIP	28977666
种属内	CHD4	Q14839	HDAC1	Homo sapiens	Q13547	Anti Bait CoIP	20693977
种属内	CHD4	Q14839	HDAC1	Homo sapiens	Q13547	Anti Tag CoIP	20693977
种属内	CHD4	Q14839	HDAC1	Homo sapiens	Q13547	Confocal	28977666

种属间: 跨种属相互作用 种属内: 同种属相互作用

CHD4 抗体

目录号	产品名	应用	反应物种
HY-P81265	CHD4 Antibody (YA946)	WB, IP	Human
HY-P81265A	CHD4 Antibody (YA947)	WB, ICC/IF, FC	Human

关联疾病

疾病名称

别名

Sifrim-Hitz-Weiss Syndrome

SIHIWES

Sifrim-Hitz-Weiss Multiple Congenital Anomalies-Mental Retardation Syndrome

Dermatomyositis

Amyopathic Dermatomyositis	Dermatopolymyositis
Adult Dermatomyositis	Polymyositis With Skin Involvement
Adult Type Dermatomyositis	Petges-Clejat Syndrome

Hutchinson-Gilford Progeria Syndrome

Progeria	HGPS
Hutchinson-Gilford Syndrome	Hutchinson-Gilford Progeria
Hutchinson Gilford Syndrome	Hutchinson Gilford Progeria Syndrome
Hutchinson-Gilford Disease	Progeria Of Childhood
Hutchinson-Gilford-Progeria Syndrome

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri	Mixed Mullerian Sarcoma Of Uterus
Malignant Mixed Müllerian Tumor Of The Corpus Uteri	Malignant Mixed Müllerian Tumor Of Corpus Uteri
Mixed Müllerian Cancer Of Corpus Uteri	Malignant Mixed Mullerian Tumor Of The Corpus Uteri
Mixed Mullerian Cancer Of Corpus Uteri	Uterine Corpus Carcinosarcoma

Schizophrenia 8

SCZD8	Schizophrenia Susceptibility Locus, Chromosome 18-Related
Schizophrenia 8 With Or Without An Affective Disorder

Helsmoortel-Van Der Aa Syndrome

HVDAS	Mrd28
Adnp Syndrome	Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28	Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28, Formerly	Mrd28, Formerly
Autosomal Dominant Mental Retardation 28	Adnp-Related Intellectual Disability And Autism Spectrum Disorder
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

Uterine Corpus Endometrial Carcinoma

Cockayne Syndrome

Cockayne'S Syndrome	Dwarfism-Retinal Atrophy-Deafness Syndrome
Neill-Dingwall Syndrome	Progeria-Like Syndrome
Progeroid Nanism	Cs

Endometrial Serous Adenocarcinoma

Uterine Serous Carcinoma	Uterine Corpus Serous Adenocarcinoma
Uterine Papillary Serous Carcinoma

Charge Syndrome

Charge Association	Hall-Hittner Syndrome
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies	Hhs
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies	Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
CHARGES

Adult Malignant Schwannoma

Adult Mpnst

Adult Neurofibrosarcoma

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Uterine Corpus Cancer

Corpus Uteri Cancer

Malignant Uterine Corpus Neoplasm

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-RS02609	CHD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CHD4	RGD	RGD:620064
Macaca mulatta	CHD4	VGNC	VGNC:71029
Felis catus	CHD4	VGNC	VGNC:83529
Canis familiaris	CHD4	VGNC	VGNC:39202
Mus musculus	CHD4	MGD	MGI:1344380
Bos taurus	CHD4	VGNC	VGNC:27280

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4