Gene

b9d1

ID
ZDB-GENE-050522-467
Name
B9 protein domain 1
Symbol
b9d1 Nomenclature History
Previous Names
  • im:6905750
  • im:7069491
  • wu:fc09g07
  • zgc:110733
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to have hedgehog receptor activity. Predicted to be involved in cilium assembly and smoothened signaling pathway. Predicted to localize to MKS complex; centrosome; and ciliary basal body. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With b9d1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Joubert syndrome 27 Alliance Joubert syndrome 27 617120
?Meckel syndrome 9 614209
Associated With b9d1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR010796 B9-type C2 domain
Domain Details Per Protein
Protein Length B9-type C2 domain
UniProtKB:Q503B7 201
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