Format

Send to:

Choose Destination

CHD2 chromodomain helicase DNA binding protein 2 [ Homo sapiens (human) ]

Gene ID: 1106, updated on 19-Jun-2019

Summary

Official Symbol
CHD2provided by HGNC
Official Full Name
chromodomain helicase DNA binding protein 2provided by HGNC
Primary source
HGNC:HGNC:1917
See related
Ensembl:ENSG00000173575 MIM:602119
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EEOC
Summary
The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 26.2), thyroid (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See CHD2 in Genome Data Viewer
Location:
15q26.1
Exon count:
39
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (92900321..93027996)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (93442286..93571237)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FAM174B-LINC01578 intergenic CAGE-defined high expression enhancer Neighboring gene long intergenic non-protein coding RNA 1578 Neighboring gene microRNA 3175 Neighboring gene Y-box binding protein 2 pseudogene Neighboring gene repulsive guidance molecule BMP co-receptor a Neighboring gene uncharacterized LOC101927025

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-08-01)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-08-01)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
histone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IEA
Inferred from Electronic Annotation
more info
 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
muscle organ development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
chromodomain-helicase-DNA-binding protein 2
Names
ATP-dependent helicase CHD2
CHD-2
NP_001036037.1
NP_001262.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012826.2 RefSeqGene

    Range
    5004..132676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042572.3NP_001036037.1  chromodomain-helicase-DNA-binding protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001036037.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons and has an alternate 3' end, as compared to variant 1. The encoded isoform (2) has a much shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    BC007347, BU630151, CN277753
    Consensus CDS
    CCDS45356.1
    UniProtKB/Swiss-Prot
    O14647
    Related
    ENSP00000406581.2, ENST00000420239.6
    Conserved Domains (2) summary
    cd00024
    Location:295344
    CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
    pfam00385
    Location:378447
    Chromo; Chromo (CHRromatin Organisation MOdifier) domain
  2. NM_001271.4NP_001262.3  chromodomain-helicase-DNA-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001262.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA907775, AC013394, AF006514, CT003638, DB111282, DB121252
    Consensus CDS
    CCDS10374.2
    UniProtKB/Swiss-Prot
    O14647
    Related
    ENSP00000377747.4, ENST00000394196.9
    Conserved Domains (8) summary
    cd00024
    Location:282344
    CHROMO; Chromatin organization modifier (chromo) domain is a conserved region of around 50 amino acids found in a variety of chromosomal proteins, which appear to play a role in the functional organization of the eukaryotic nucleus. Experimental evidence ...
    cd00046
    Location:503648
    DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
    pfam00176
    Location:487768
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:790905
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:379447
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam08648
    Location:16611749
    DUF1777; Protein of unknown function (DUF1777)
    pfam13907
    Location:14711553
    DUF4208; Domain of unknown function (DUF4208)
    pfam17104
    Location:10421165
    DUF5102; Domain of unknown function (DUF5102)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    92900321..93027996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center