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Gene: BBS2 (Bardet-Biedl syndrome 2) Homo sapiens
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Symbol: BBS2
Name: Bardet-Biedl syndrome 2
Description: Exhibits RNA polymerase II repressing transcription factor binding activity. Involved in Golgi to plasma membrane protein transport and visual perception. Localizes to the BBSome; ciliary basal body; and motile cilium. Implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bardet-biedl syndrome 2 (human); Bardet-Biedl syndrome 2 protein; BBS; MGC20703; RP74
Orthologs:
Mus musculus (house mouse) : Bbs2 (Bardet-Biedl syndrome 2 (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Bbs2 (Bardet-Biedl syndrome 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bbs2 (Bardet-Biedl syndrome 2)
Pan paniscus (bonobo/pygmy chimpanzee) : BBS2 (Bardet-Biedl syndrome 2)
Canis lupus familiaris (dog) : BBS2 (Bardet-Biedl syndrome 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bbs2 (Bardet-Biedl syndrome 2)
Sus scrofa (pig) : BBS2 (Bardet-Biedl syndrome 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381656,470,403 - 56,520,095 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371656,504,301 - 56,554,008 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361655,075,798 - 55,111,696 (-)NCBINCBI36hg18NCBI36
Build 341655,075,798 - 55,111,696NCBI
Celera1641,016,278 - 41,052,025 (-)NCBI
Cytogenetic Map16q13NCBI
HuRef1642,388,684 - 42,424,427 (-)NCBIHuRef
CHM1_11657,925,275 - 57,961,074 (-)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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on BBS2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732435
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-10-16
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.