CHD4 - chromodomain helicase DNA binding protein 4 Gene

Homo sapiens

Also known as CHD-4; Mi-2b; SIHIWES; Mi2-BETA

Gene ID: 1108 | Gene type: protein coding

About 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.

Summary

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 Products(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

CHD4 Protein Structure

CHDNT

PHD

Chromo

SNF2_N

Helicase_C

DUF1087

DUF1086

CHDCT2

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

Protein Preferred Names

Protein Names

chromodomain-helicase-DNA-binding protein 4

ATP-dependent helicase CHD4

Related Diseases

Diseases

Alias

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

Diseases	Alias
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.	Product Name	Effect	Purity	Rare Diseases
HY-RS02609	CHD4 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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