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. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Is expressed in brain; eye; fin; and otic placode. Orthologous to human BBS7 (Bardet-Biedl syndrome 7).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression 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:F1Q6W8 715
UniProtKB:Q08C18 715
UniProtKB:E9QDJ5 410
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations