CHD3 - chromodomain helicase DNA binding protein 3 Gene

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

CHD3 Protein Structure

CHDNT

PHD

Chromo

SNF2_N

Helicase_C

DUF1087

DUF1086

CHDCT2

0
400
800
1200
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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02608	CHD3 Human Pre-designed siRNA Set A		/	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