2. Gene
  3. CHD3 - chromodomain helicase DNA binding protein 3 Gene

CHD3 - chromodomain helicase DNA binding protein 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ZFH; Mi-2a; SNIBCPS; Mi2-ALPHA

Gene ID: 1107 | Gene type: protein coding

About CHD3

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,884,796-7,912,755 (from NCBI)

This gene has 23 transcripts (splice variants), 201 orthologues, 30 paralogues and is associated with 2 phenotypes. Ubiquitous expression in prostate (RPKM 26.5), brain (RPKM 24.4) and 24 other tissues.

Summary

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CHD3 Products(3)

mRNA Protein Name
NM_001005271.3 NP_001005271.2 chromodomain-helicase-DNA-binding protein 3 isoform 3
NM_001005273.3 NP_001005273.1 chromodomain-helicase-DNA-binding protein 3 isoform 1
NM_005852.4 NP_005843.2 chromodomain-helicase-DNA-binding protein 3 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 protein binding IPI
IPI: Inferred from physical interaction
9804427 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
27068747 GOA
Biological Process GO Annotation Evidence Reference Source
involved in centrosome cycle IDA
IDA: Inferred from direct assay
17626165 GOA
involved in chromatin remodeling IDA
IDA: Inferred from direct assay
9790534 GOA
involved in chromatin remodeling IMP
IMP: Inferred from mutant phenotype
30397230 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
27068747 GOA
involved in spindle organization IDA
IDA: Inferred from direct assay
17626165 GOA
Cellular Component GO Annotation Evidence Reference Source
part of NuRD complex IDA
IDA: Inferred from direct assay
17827154 GOA
part of NuRD complex IPI
IPI: Inferred from physical interaction
27068747 GOA
located in PML body IDA
IDA: Inferred from direct assay
27068747 GOA
located in centrosome IDA
IDA: Inferred from direct assay
17626165 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
17626165 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22720776 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

CHD3 Protein Structure

CHDNT

CHDNT: CHDNT (NUC034) domain (147 - 201)

PHD

PHD: PHD-finger (381 - 425)

PHD

PHD: PHD-finger (458 - 502)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (547 - 570)

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (632 - 681)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (739 - 1035)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (1095 - 1174)

DUF1087

DUF1087: Domain of Unknown Function (DUF1087) (1295 - 1357)

DUF1086

DUF1086: Domain of Unknown Function (DUF1086) (1378 - 1517)

CHDCT2

CHDCT2: CHDCT2 (NUC038) domain (1735 - 1907)

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  • 1600
  • 2000 a.a.
Protein Preferred Names Protein Names

chromodomain-helicase-DNA-binding protein 3

ATP-dependent helicase CHD3

Related Diseases

Diseases Alias
Snijders Blok-Campeau Syndrome

SNIBCPS

Intellectual Developmental Disorder With Macrocephaly, Speech Delay, And Dysmorphic Facies

Iddmsf

Chd3-Related Developmental Delay-Speech Delay-Intellectual Disability-Abnormalities Of Vision-Facial Dysmorphism Syndrome
Dermatomyositis

Amyopathic Dermatomyositis

Dermatopolymyositis

Adult Dermatomyositis

Polymyositis With Skin Involvement

Adult Type Dermatomyositis

Petges-Clejat Syndrome
Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1
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
Apraxia

Apraxias

Dyspraxia
Myasthenic Syndrome, Congenital, 1a, Slow-Channel

Congenital Myasthenic Syndrome 1a

Congenital Myasthenic Syndrome 2a

CMS1A

Cms Iia

Congenital Myasthenic Syndrome Type Iia

Cms2a

Myasthenic Syndrome, Congenital, Type Iia, Formerly

Cms2a, Formerly

Cms Iia, Formerly

Congenital Myasthenic Syndrome 1a, Slow-Channel

Congenital Myasthenic Syndrome 2a Slow-Channel

Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel

Myasthenic Syndrome, Congenital, Slow-Channel

Sccms

Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel

Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel

Myasthenic Syndromes, Congenital, Slow Channel
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
Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02608 CHD3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris CHD3 VGNC VGNC:39201
Mus musculus CHD3 MGD MGI:1344395
Rattus norvegicus CHD3 RGD RGD:1311923
Felis catus CHD3 VGNC VGNC:60845
Bos taurus CHD3 VGNC VGNC:27279