CHD4 - chromodomain helicase DNA binding protein 4 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1108

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
28977666 GOA
enables ATP-dependent chromatin remodeler activity IDA
IDA: Inferred from direct assay
28977666 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
22926524 GOA
enables histone deacetylase binding IPI
IPI: Inferred from physical interaction
27616479 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9804427 GOA
enables transcription coregulator binding IPI
IPI: Inferred from physical interaction
29795351 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
33859416 GOA
Biological Process GO Annotation Evidence References Source
involved in chromatin remodeling IDA
IDA: Inferred from direct assay
9790534 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
25593309 GOA
involved in negative regulation of gene expression IDA
IDA: Inferred from direct assay
33859416 GOA
involved in negative regulation of gene expression IGI
IGI: Inferred from genetic interaction
33301730 GOA
Cellular Component GO Annotation Evidence References Source
part of NuRD complex IDA
IDA: Inferred from direct assay
19644445 GOA
part of RNA polymerase II transcription regulator complex IDA
IDA: Inferred from direct assay
29795351 GOA
located in centrosome IDA
IDA: Inferred from direct assay
17626165 GOA
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
25150861 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17626165 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
22720776 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28977666 GOA
located in site of DNA damage IDA
IDA: Inferred from direct assay
25593309 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHD4 Protein Structure

CHDNT

CHDNT: CHDNT (NUC034) domain (163 - 217)

PHD

PHD: PHD-finger (372 - 416)

PHD

PHD: PHD-finger (451 - 495)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (540 - 574)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (624 - 670)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (729 - 1025)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1085 - 1164)

DUF1087

DUF1087: Domain of Unknown Function (DUF1087) (1290 - 1352)

DUF1086

DUF1086: Domain of Unknown Function (DUF1086) (1378 - 1522)

CHDCT2

CHDCT2: CHDCT2 (NUC038) domain (1724 - 1896)

  • 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

CHD4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CHD4 Q14839 HDAC1 Homo sapiens Q13547
Anti Tag CoIP
28977666
Intra
CHD4 Q14839 HDAC1 Homo sapiens Q13547
Anti Bait CoIP
20693977
Intra
CHD4 Q14839 HDAC1 Homo sapiens Q13547
Anti Tag CoIP
20693977
Intra
CHD4 Q14839 HDAC1 Homo sapiens Q13547
Confocal
28977666
Cross: Cross-species interaction Intra: Intraspecies interaction

CHD4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81265 CHD4 Antibody (YA946) WB, IP Human
HY-P81265A CHD4 Antibody (YA947) WB, ICC/IF, FC Human
HY-P85572 CHD4 Antibody (YA5264) WB, IP Human

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02609 CHD4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18917 Chd4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25407 Chd4 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others CHD4 NCBI