Format

Send to:

Choose Destination

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

Gene ID: 55636, updated on 29-May-2016
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 HPRD:10595; MIM:608892; Vega:OTTHUMG00000165332
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]
Orthologs
Location:
8q12.2
Exon count:
44
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (60678762..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 uncharacterized LOC105375866 Neighboring gene uncharacterized LOC105375865 Neighboring gene RAB2A, member RAS oncogene family Neighboring gene uncharacterized LOC105375869 Neighboring gene uncharacterized LOC105375868 Neighboring gene uncharacterized LOC101929576 Neighboring gene interferon induced transmembrane protein pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding TAS
Traceable Author Statement
more info
PubMed 
helicase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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
 
artery morphogenesis IEA
Inferred from Electronic Annotation
more info
 
blood circulation IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin modification 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 
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
 
palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of multicellular organism growth 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 transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
retina development in camera-type eye 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 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
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_060250.2

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
    UniProtKB/Swiss-Prot
    Q9P2D1
    Conserved Domains (1) summary
    smart00592
    Location:593637
    BRK; domain in transcription and CHROMO domain helicases
  2. NM_017780.3NP_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, OTTHUMP00000229376, ENST00000423902, OTTHUMT00000383468
    Conserved Domains (8) summary
    smart00592
    Location:26422686
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:883934
    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.
    cd00079
    Location:12901412
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam07533
    Location:25632604
    BRK; BRK domain
    pfam08430
    Location:306423
    Fork_head_N; Forkhead N-terminal region
    pfam12533
    Location:495569
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    60678762..60868028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517553.1XP_011515855.1  

    See identical proteins and their annotated locations for XP_011515855.1

    Conserved Domains (8) summary
    smart00592
    Location:26722716
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:883934
    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.
    cd00079
    Location:12901412
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam07533
    Location:25932634
    BRK; BRK domain
    pfam08430
    Location:306423
    Fork_head_N; Forkhead N-terminal region
    pfam12533
    Location:495569
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  2. XM_011517556.1XP_011515858.1  

    Conserved Domains (7) summary
    smart00592
    Location:25982642
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:883934
    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.
    cd00079
    Location:12901412
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam08430
    Location:306423
    Fork_head_N; Forkhead N-terminal region
    pfam12533
    Location:495569
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  3. XM_011517555.1XP_011515857.1  

    Conserved Domains (8) summary
    smart00592
    Location:26712715
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:883934
    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.
    cd00079
    Location:12901412
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam07533
    Location:25922633
    BRK; BRK domain
    pfam08430
    Location:306423
    Fork_head_N; Forkhead N-terminal region
    pfam12533
    Location:495569
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  4. XM_011517560.1XP_011515862.1  

    Conserved Domains (6) summary
    cd00024
    Location:883934
    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.
    cd00079
    Location:12901412
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam08430
    Location:306423
    Fork_head_N; Forkhead N-terminal region
    pfam09606
    Location:187576
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  5. XM_011517554.1XP_011515856.1  

    See identical proteins and their annotated locations for XP_011515856.1

    Conserved Domains (8) summary
    smart00592
    Location:26722716
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:883934
    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.
    cd00079
    Location:12901412
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:9711258
    SNF2_N; SNF2 family N-terminal domain
    pfam07533
    Location:25932634
    BRK; BRK domain
    pfam08430
    Location:306423
    Fork_head_N; Forkhead N-terminal region
    pfam12533
    Location:495569
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  6. XM_011517557.1XP_011515859.1  

    Conserved Domains (6) summary
    smart00592
    Location:20012045
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:212263
    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:316465
    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.
    cd00079
    Location:619741
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:300587
    SNF2_N; SNF2 family N-terminal domain
    pfam07533
    Location:19221963
    BRK; BRK domain
  7. XM_011517558.1XP_011515860.1  

    Conserved Domains (6) summary
    smart00592
    Location:18511895
    BRK; domain in transcription and CHROMO domain helicases
    cd00024
    Location:62113
    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:166315
    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.
    cd00079
    Location:469591
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam00176
    Location:150437
    SNF2_N; SNF2 family N-terminal domain
    pfam07533
    Location:17721813
    BRK; BRK domain
  8. XM_011517559.1XP_011515861.1  

    Conserved Domains (4) summary
    smart00592
    Location:15871631
    BRK; domain in transcription and CHROMO domain helicases
    cd00046
    Location:751
    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.
    cd00079
    Location:205327
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    pfam07533
    Location:15081549
    BRK; BRK domain

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    61643239..61832394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)