Gene

bbs7

ID
ZDB-GENE-030219-90
Name
Bardet-Biedl syndrome 7
Symbol
bbs7 Nomenclature History
Previous Names
  • id:ibd5048
  • zgc:153772
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Involved in several processes, including Kupffer's vesicle development; embryonic morphogenesis; and establishment of pigment granule localization. Predicted to localize to several cellular components, including BBSome; cytoskeleton; and neuron projection. Is expressed in brain; eye; fin; and otic placode. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bbs7 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 7 Alliance Bardet-Biedl syndrome 7 615984
Associated With bbs7 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR016575 Bardet-Biedl syndrome 7 protein
Homologous_superfamily IPR036322 WD40-repeat-containing domain superfamily
Domain Details Per Protein
Protein Length Bardet-Biedl syndrome 7 protein WD40-repeat-containing domain superfamily
UniProtKB:Q08C18 715
UniProtKB:E9QDJ5 410
UniProtKB:F1Q6W8 715
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations