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Bbs4
Gene Detail
Symbol

Name
ID
Bbs4
Bardet-Biedl syndrome 4 (human)
MGI:2143311
Synonyms
D9Ertd464e
Feature Type
protein coding gene
Genetic Map
Chromosome 9
32.01 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr9:59321966-59353508 bp, - strand
From NCBI annotation of GRCm38

  31543 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:13197  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Bbs4

Human
homologs
Human Homolog BBS4, Bardet-Biedl syndrome 4
NCBI Gene ID 585
neXtProt AC  NX_Q96RK4
Human Chr (Location)  15q22.3-q23; chr15:72686179-72738476 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human BBS4
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(4) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons.
 
Human Diseases Modeled Using Mouse Bbs4 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(2)
Interactions
Bbs4 interacts with 161 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (66 annotations)
Process adult behavior, brain morphogenesis, ...
Component BBSome, cell projection, ...
Function alpha-tubulin binding, beta-tubulin binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (39)    Tissues (25)    Images (11)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 37
RT-PCR 2
cDNA source data(51)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(53) cDNA(51) Primer pair(2)
Microarray probesets(7)
Other database
links
Ensembl Gene ModelENSMUSG00000025235 (Evidence)
Entrez Gene102774 (Evidence)
UniGene200714
DFCITC1577048
DoTSDT.110604773, DT.40179913, DT.94280197
NIA Mouse Gene IndexU030944
Consensus CDS ProjectCCDS40658.1
International Mouse Knockout Project StatusBbs4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 102774 NCBI Gene Model | MGI Sequence Detail 31543 C57BL/6J ±  kb
transcript NM_175325 RefSeq | MGI Sequence Detail 2542 C57BL/6 
polypeptide Q8C1Z7 UniProt | EBI | MGI Sequence Detail 520 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(183 from dbSNP Build 137)    SNPs within 2kb including multiple locations(191)
Protein-related
information
ResourceIDDescription
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR013105 Tetratricopeptide TPR2
Protein Ontology PR:000004667 bardet-Biedl syndrome 4 protein
Graphical View of Protein Domain Structure
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:206657 Ye X, et al., C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2164-9
All references(71)
Disease annotation references (5)
Other
accession IDs
MGI:1196340, MGI:2143342

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory