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 cilium assembly; heart looping; and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; photoreceptor cell outer segment organization; and regionalization. Predicted to be located in centriolar satellite and ciliary membrane. Predicted to be active in ciliary basal body. Is expressed in eye; eye photoreceptor cell; and photoreceptor outer segment layer. Used to study Bardet-Biedl syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. 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
Allele Type Localization Consequence Mutagen Supplier
ouc2040Allele with one delinsExon 8UnknownTALEN
sa258Allele with one point mutationUnknownPremature StopENU
sa11279Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources Length Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat
UniProtKB:E7EXH4 InterPro 528
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 25
Type Name Annotation Method Has Havana Data Length (nt) Analysis
aberrant processed transcript bbs4-201 (1) Ensembl 2,324 nt
antisense ottdart00000059890 (1) Ensembl 501 nt
mRNA bbs4-202 (1) Ensembl 2,367 nt
ncRNA bbs4-002 (1) Ensembl 779 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-117K16
EncodescDNAMGC:191574ZFIN Curated Data
Has ArtifactcDNAMGC:152964ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanBBS415
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
MouseBbs49
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
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