About   Help   FAQ
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

HCOP human homology predictions: BBS4
Gene Tree: Bbs4

Human
homologs
BBS4, Bardet-Biedl syndrome 4
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 585
neXtProt AC: NX_Q96RK4

Human Chr (Location): 15q22.3-q23; chr15:72686179-72738476 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human BBS4

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(4) Targeted(4) Transgenic(1)
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 in Mice Using Bbs4 (2)    Mutations 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: (86 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bbs4 ; ZFIN bbs4    NEW 
Molecular
reagents
All nucleic(53) cDNA(51) Primer pair(2)
Microarray probesets(7)
Other database
links
Ensembl Gene Model ENSMUSG00000025235 (Evidence)
Entrez Gene 102774 (Evidence)
UniGene 200714
DFCI TC1577048
DoTS DT.110604773, DT.40179913, DT.94280197
NIA Mouse Gene Index U030944
Consensus CDS Project CCDS40658.1
International Mouse Phenotyping Consortium Status Bbs4
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(35) RefSeq(4) UniProt(2)
Polymorphisms
SNPs within 2kb(183 from dbSNP Build 137)    SNPs within 2kb including multiple locations(191)
Protein-related
information
ResourceIDDescription
InterPro IPR028786 Bardet-Biedl syndrome 4 protein
InterPro IPR011990 Tetratricopeptide-like helical domain
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013105 Tetratricopeptide repeat 2
InterPro IPR013026 Tetratricopeptide repeat-containing domain
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:215031 Agassandian K, et al., Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model. PLoS One. 2014;9(4):e93484
All references(73)
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
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/25/2015
MGI 6.0
The Jackson Laboratory