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

Gene ID: 55636, updated on 9-Feb-2020

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

Genomic context

See CHD7 in Genome Data Viewer
Location:
8q12.2
Exon count:
42
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (60678740..60868028)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (61591321..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 translation initiation factor IF-2-like 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

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

NHGRI GWAS Catalog

Description
Genome-wide association study of lung function decline in adults with and without asthma.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding TAS
Traceable Author Statement
more info
PubMed 
promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
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
 
T cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
adult heart development IEA
Inferred from Electronic Annotation
more info
 
adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
aorta morphogenesis IEA
Inferred from Electronic Annotation
more info
 
atrioventricular canal development IEA
Inferred from Electronic Annotation
more info
 
blood circulation IEA
Inferred from Electronic Annotation
more info
 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
cardiac septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
cranial nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epithelium development IEA
Inferred from Electronic Annotation
more info
 
face development IMP
Inferred from Mutant Phenotype
more info
PubMed 
female genitalia development IEA
Inferred from Electronic Annotation
more info
 
genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner ear morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
innervation IEA
Inferred from Electronic Annotation
more info
 
limb development IMP
Inferred from Mutant Phenotype
more info
PubMed 
nose development IMP
Inferred from Mutant Phenotype
more info
PubMed 
olfactory behavior IEA
Inferred from Electronic Annotation
more info
 
olfactory bulb development IEA
Inferred from Electronic Annotation
more info
 
olfactory nerve development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
rRNA processing IEA
Inferred from Electronic Annotation
more info
 
regulation of growth hormone secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
right ventricular compact myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
secondary palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
semicircular canal morphogenesis IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
chromodomain helicase DNA binding protein 7 isoform CRA_e
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)

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 109.20191205

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
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