Gene

bbs9

ID
ZDB-GENE-081027-4
Name
Bardet-Biedl syndrome 9
Symbol
bbs9 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Involved in several processes, including embryonic morphogenesis; renal filtration; and retina layer formation. Predicted to localize to BBSome and membrane. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and premature ovarian failure. Is expressed in brain; eye; and somite. Orthologous to human BBS9 (Bardet-Biedl syndrome 9).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Veleri et al., 2012
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With bbs9 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 9 Alliance Bardet-Biedl syndrome 9 615986
Associated With bbs9 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR028073 PTHB1, N-terminal domain
Domain IPR028074 PTHB1, C-terminal domain
Family IPR026511 Parathyroid hormone-responsive B1
Domain Details Per Protein
Protein Length Parathyroid hormone-responsive B1 PTHB1, C-terminal domain PTHB1, N-terminal domain
UniProtKB:E7F6E0 837
UniProtKB:A0A2R8RRE9 842
UniProtKB:F8W5N6 477
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