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Gene: BBS9 (Bardet-Biedl syndrome 9) Homo sapiens
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Symbol: BBS9
Name: Bardet-Biedl syndrome 9
Description: Involved in protein localization to cilium. Localizes to the BBSome; centrosome; and ciliary transition zone. Implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and premature ovarian failure.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B1; bardet-Biedl syndrome 9 protein; C18; D1; MGC118917; parathyroid hormone-responsive B1 gene protein; PTH-responsive osteosarcoma B1 protein; PTHB1
Orthologs:
Mus musculus (house mouse) : Bbs9 (Bardet-Biedl syndrome 9 (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Bbs9 (Bardet-Biedl syndrome 9)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bbs9 (Bardet-Biedl syndrome 9)
Pan paniscus (bonobo/pygmy chimpanzee) : BBS9 (Bardet-Biedl syndrome 9)
Canis lupus familiaris (dog) : BBS9 (Bardet-Biedl syndrome 9)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bbs9 (Bardet-Biedl syndrome 9)
Sus scrofa (pig) : BBS9 (Bardet-Biedl syndrome 9)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl733,109,557 - 33,877,180 (+)Ensembl
GRCh38733,129,244 - 33,637,238 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37733,169,144 - 33,645,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36733,135,677 - 33,612,205 (+)NCBINCBI36hg18NCBI36
Celera733,150,951 - 33,627,167 (+)NCBI
Cytogenetic Map7p14.3NCBI
HuRef733,048,405 - 33,526,037 (+)NCBIHuRef
CHM1_1733,168,985 - 33,645,302 (+)NCBICHM1_1
CRA_TCAGchr7v2733,213,680 - 33,690,276 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on BBS9
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1603660
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.