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CHD7 chromodomain helicase DNA binding protein 7 [ Homo sapiens (human) ]

Gene ID: 55636, updated on 12-Sep-2021

Summary

Official Symbol
CHD7provided by HGNC
Official Full Name
chromodomain helicase DNA binding protein 7provided by HGNC
Primary source
HGNC:HGNC:20626
See related
Ensembl:ENSG00000171316 MIM:608892
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
CRG; HH5; IS3; KAL5
Summary
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Expression
Ubiquitous expression in bone marrow (RPKM 6.4), brain (RPKM 4.0) and 25 other tissues See more
Orthologs
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Genomic context

See CHD7 in Genome Data Viewer
Location:
8q12.2
Exon count:
42
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (60678740..60868028)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (61591299..61780587)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1301 Neighboring gene RAB2A, member RAS oncogene family Neighboring gene uncharacterized LOC105375938 Neighboring gene IFITM3 pseudogene 8

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CHARGE association Compare labs
Genome-wide association study of lung function decline in adults with and without asthma.
GeneReviews: Not available
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
GeneReviews: Not available
Hypogonadotropic hypogonadism 5 with or without anosmia Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-07-06)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20357, FLJ20361, KIAA1416

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP-dependent chromatin remodeler activity IEA
Inferred from Electronic Annotation
more info
 
enables DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding TAS
Traceable Author Statement
more info
PubMed 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adult heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in atrioventricular canal development IEA
Inferred from Electronic Annotation
more info
 
involved_in blood circulation IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cranial nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelium development IEA
Inferred from Electronic Annotation
more info
 
involved_in face development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in female genitalia development IEA
Inferred from Electronic Annotation
more info
 
involved_in genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in innervation IEA
Inferred from Electronic Annotation
more info
 
involved_in limb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nose development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
involved_in olfactory nerve development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of growth hormone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in right ventricular compact myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in secondary palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in semicircular canal morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
chromodomain-helicase-DNA-binding protein 7
Names
ATP-dependent helicase CHD7
CHARGE association
NP_001303619.1
NP_060250.2
XP_011515855.1
XP_011515856.1
XP_011515857.1
XP_011515862.1
XP_016869101.1
XP_016869102.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_007009.1 RefSeqGene

    Range
    4986..194249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_176

mRNA and Protein(s)

  1. NM_001316690.1NP_001303619.1  chromodomain-helicase-DNA-binding protein 7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as CRA_e) lacks most of the internal exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is significantly shorter compared to isoform 1. This isoform, described in PMID:20925924, may negatively regulate the activity of isoform 1.
    Source sequence(s)
    AC113143, BC068000, BI039198, GU060498, W78145
    Consensus CDS
    CCDS83299.1
    UniProtKB/Swiss-Prot
    Q9P2D1
    Related
    ENSP00000437061.1, ENST00000524602.5
    Conserved Domains (3) summary
    smart00592
    Location:593637
    BRK; domain in transcription and CHROMO domain helicases
    pfam15991
    Location:270418
    G_path_suppress; G-protein pathway suppressor
    cl25764
    Location:364587
    PAT1; Topoisomerase II-associated protein PAT1
  2. NM_017780.4NP_060250.2  chromodomain-helicase-DNA-binding protein 7 isoform 1

    See identical proteins and their annotated locations for NP_060250.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB037837, AC023102, AC113143, AK123158, BC033116, BC051264, BC068000, BI039198, W78145
    Consensus CDS
    CCDS47865.1
    UniProtKB/Swiss-Prot
    Q9P2D1
    UniProtKB/TrEMBL
    Q6ZWF9
    Related
    ENSP00000392028.1, ENST00000423902.7
    Conserved Domains (9) summary
    smart00592
    Location:26422686
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:202576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam07533
    Location:25642604
    BRK; BRK domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    60678740..60868028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517553.2XP_011515855.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011515855.1

    Conserved Domains (9) summary
    smart00592
    Location:26722716
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:202576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam07533
    Location:25942634
    BRK; BRK domain
  2. XM_011517555.2XP_011515857.1  chromodomain-helicase-DNA-binding protein 7 isoform X2

    Conserved Domains (9) summary
    smart00592
    Location:26712715
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:202576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam07533
    Location:25932633
    BRK; BRK domain
  3. XM_017013613.1XP_016869102.1  chromodomain-helicase-DNA-binding protein 7 isoform X3

    Conserved Domains (9) summary
    smart00592
    Location:26412685
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:202576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam07533
    Location:25632603
    BRK; BRK domain
  4. XM_011517560.2XP_011515862.1  chromodomain-helicase-DNA-binding protein 7 isoform X4

    Conserved Domains (7) summary
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:187576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
  5. XM_011517554.3XP_011515856.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011515856.1

    Conserved Domains (9) summary
    smart00592
    Location:26722716
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:202576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam07533
    Location:25942634
    BRK; BRK domain
  6. XM_017013612.1XP_016869101.1  chromodomain-helicase-DNA-binding protein 7 isoform X1

    Conserved Domains (9) summary
    smart00592
    Location:26722716
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:801862
    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:9871136
    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.
    pfam08430
    Location:306423
    Forkhead_N; Forkhead N-terminal region
    pfam09606
    Location:202576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam00271
    Location:12901404
    Helicase_C; Helicase conserved C-terminal domain
    pfam00385
    Location:883935
    Chromo; Chromo (CHRromatin Organization MOdifier) domain
    pfam07533
    Location:25942634
    BRK; BRK domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017783.1: Suppressed sequence

    Description
    NM_017783.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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