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 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; chr15:72978520-73030817 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BBS4

Alleles and phenotypes

All alleles(7) : Targeted(3) Gene trapped(4)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (56 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)
Theiler Stages: 23, 26, 28

Assay Type	Results
RNA in situ	37
RT-PCR	2

cDNA source data(51)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Bbs4

Sequences

Length	Strain/Species
genomic	102774	NCBI Gene Model | MGI Sequence Detail	31543	C57BL/6J
transcript	NM_175325	RefSeq | MGI Sequence Detail	2542	C57BL/6
polypeptide	Q8C1Z7	UniProt | EBI | MGI Sequence Detail	520	Not Applicable

All sequences(33) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(163 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193199 Gilliam JC, et al., Three-dimensional architecture of the rod sensory cilium and its disruption in retinal neurodegeneration. Cell. 2012 Nov 21;151(5):1029-41
All references(63)

Other accession IDs

MGI:1196340, MGI:2143342