Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: BBS4 (Bardet-Biedl syndrome 4) Homo sapiens
Analyze
Symbol: BBS4
Name: Bardet-Biedl syndrome 4
Description: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Bardet-Biedl syndrome 4 protein
Orthologs:
Mus musculus (house mouse) : Bbs4 (Bardet-Biedl syndrome 4 (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Bbs4 (Bardet-Biedl syndrome 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bbs4 (Bardet-Biedl syndrome 4)
Pan paniscus (bonobo/pygmy chimpanzee) : BBS4 (Bardet-Biedl syndrome 4)
Canis lupus familiaris (dog) : BBS4 (Bardet-Biedl syndrome 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bbs4 (Bardet-Biedl syndrome 4)
Sus scrofa (pig) : BBS4 (Bardet-Biedl syndrome 4)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,686,179 - 72,738,476 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371572,978,520 - 73,030,817 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,765,588 - 70,817,869 (+)NCBINCBI36hg18NCBI36
Build 341570,765,587 - 70,817,869NCBI
Celera1549,857,583 - 49,909,622 (+)NCBI
Cytogenetic Map15q24.1NCBI
HuRef1549,809,136 - 49,861,119 (+)NCBIHuRef
CHM1_11573,096,698 - 73,148,926 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on BBS4
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1319306
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



NHLBI Logo

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