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 enable phosphatidylinositol-3-phosphate binding activity. Involved in heart looping and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; camera-type eye photoreceptor cell development; and pigment granule aggregation in cell center. Predicted to be located in ciliary membrane; cytoplasm; and cytoskeleton. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Is expressed in forebrain; margin; tail bud; and visual system. 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
8 figures from 2 publications
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
Homologous_superfamily IPR011993 PH-like domain superfamily
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 PH-like domain superfamily
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