Gene

bbs4

ID
ZDB-GENE-060126-2
Name
Bardet-Biedl syndrome 4
Symbol
bbs4 Nomenclature History
Previous Names
  • zgc:152964
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Involved in several processes, including Kupffer's vesicle development; embryonic morphogenesis; and establishment of pigment granule localization. Used to study Bardet-Biedl syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Is expressed in eye photoreceptor cell. Orthologous to human BBS4 (Bardet-Biedl syndrome 4).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
24 figures from 13 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bbs4 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 4 Alliance Bardet-Biedl syndrome 4 615982
Associated With bbs4 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
Repeat IPR019734 Tetratricopeptide repeat
Domain Details Per Protein
Protein Length Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat
UniProtKB:E7EXH4 528
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