Bbs9
Gene Detail

Symbol Name ID

Bbs9 Bardet-Biedl syndrome 9 (human) MGI:2442833

Synonyms

E130103I17Rik, EST 3159894

Feature Type

protein coding gene

Genetic Map

Chromosome 9

9.17 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr9:22475715-22888280 bp, + strand From VEGA annotation of GRCm38   412566 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:44480  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Bbs9

Human homologs

Human Homolog		BBS9, Bardet-Biedl syndrome 9
NCBI Gene ID		27241
neXtProt AC		NX_Q3SYG4
Human Synonyms		B1, C18, D1, PTHB1
Human Chr (Location)		7p14; chr7:33169152-33645680 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BBS9

Alleles and phenotypes

All alleles(19) : Targeted(2) Gene trapped(17)

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	biological_process
Component	BBSome, cell projection, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (125)    Tissues (20)    Images (24)
Theiler Stages: 23

Assay Type	Results
RNA in situ	125

cDNA source data(43)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(44) cDNA(43) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000031157 (Evidence)
Ensembl Gene Model	ENSMUSG00000035919 (Evidence)
Entrez Gene	319845 (Evidence)
UniGene	176725
DFCI	TC1579088, TC1592246, TC1617671, TC1630075
DoTS	DT.101385069, DT.101735117, DT.528877, DT.91434856, DT.94283286
NIA Mouse Gene Index	U010169
Consensus CDS Project	CCDS22928.1
International Mouse Knockout Project Status	Bbs9

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031157	VEGA Gene Model | MGI Sequence Detail	412566	C57BL/6J
transcript	OTTMUST00000077183	VEGA | MGI Sequence Detail	3045	Not Applicable
polypeptide	OTTMUSP00000040759	VEGA | MGI Sequence Detail	885	Not Applicable

All sequences(75) RefSeq(4) UniProt(5)

Polymorphisms

PCR(1) : SNPs(1599 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR026511	Parathyroid hormone-responsive B1
Protein Ontology	PR:000004670	protein PTHB1

References

(Earliest) J:62157 Thomas JW, et al., Comparative genome mapping in the sequence-based era: early experience with human chromosome 7. Genome Res. 2000 May;10(5):624-33
(Latest) J:193641 Nakano Y, et al., A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8(10):e1002966
All references(39)

Other accession IDs

MGI:1858602