Gene

chd7

ID
ZDB-GENE-070912-179
Name
chromodomain helicase DNA binding protein 7
Symbol
chd7 Nomenclature History
Previous Names
  • si:ch211-197o6.2 (1)
  • wu:cegs2051 (1)
  • wu:fb37f10 (1)
  • wu:fb39h04 (1)
  • wu:fd19h06 (1)
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have ATP binding activity and hydrolase activity, acting on acid anhydrides. Involved in several processes, including animal organ development; nervous system development; and rRNA transcription. Predicted to localize to nucleus. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in CHARGE syndrome; hypogonadotropic hypogonadism 5 with or without anosmia; and idiopathic scoliosis. Is expressed in several structures, including central nervous system; digestive system; gonad; musculature system; and somite. Orthologous to human CHD7 (chromodomain helicase DNA binding protein 7).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
17 figures from 9 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
71 figures from 15 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With chd7 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
CHARGE syndrome Alliance CHARGE syndrome 214800
hypogonadotropic hypogonadism 5 with or without anosmia Alliance Hypogonadotropic hypogonadism 5 with or without anosmia 612370
Associated With chd7 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000330 SNF2, N-terminal
Domain IPR000953 Chromo/chromo shadow domain
Domain IPR006576 BRK domain
Domain IPR014001 Helicase superfamily 1/2, ATP-binding domain
Domain IPR023780 Chromo domain
Homologous_superfamily IPR016197 Chromo-like domain superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR037259 BRK domain superfamily
Homologous_superfamily IPR038718 SNF2-like, N-terminal domain superfamily
Domain Details Per Protein
Protein Length BRK domain BRK domain superfamily Chromo/chromo shadow domain Chromo domain Chromo-like domain superfamily Helicase superfamily 1/2, ATP-binding domain P-loop containing nucleoside triphosphate hydrolase SNF2-like, N-terminal domain superfamily SNF2, N-terminal
UniProtKB:F1QGL1 3140
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-chd7 polyclonal IgG Rabbit
  • IHC
Boster Biological
2
Ab1-chd7 polyclonal IgG Rabbit
Santa Cruz Biotechnology, Inc.
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations