Gene

bbs5

ID
ZDB-GENE-040426-1083
Name
Bardet-Biedl syndrome 5
Symbol
bbs5 Nomenclature History
Previous Names
  • zgc:56578 (1)
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have phosphatidylinositol-3-phosphate binding activity. Involved in several processes, including Kupffer's vesicle development; animal organ morphogenesis; and establishment of pigment granule localization. Predicted to localize to BBSome and ciliary basal body. Is expressed in forebrain; margin; retina; and tail bud. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
10 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bbs5 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 5 Alliance Bardet-Biedl syndrome 5 615983
Associated With bbs5 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR006606 Bardet-Biedl syndrome 5 protein
Family IPR030804 Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3
Repeat IPR014003 DM16 repeat
Domain Details Per Protein
Protein Length Bardet-Biedl syndrome 5 protein Bardet-Biedl syndrome 5 protein/sex-determination protein fem-3 DM16 repeat
UniProtKB:Q7ZWB7 342
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