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Gene: BBS2 (Bardet-Biedl syndrome 2) Homo sapiens
Symbol: BBS2
Name: Bardet-Biedl syndrome 2
RGD ID: 732435
Description: Exhibits RNA polymerase II repressing transcription factor binding activity. Involved in Golgi to plasma membrane protein transport and visual perception. Localizes to 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
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)
Chlorocebus sabaeus (African green monkey) : BBS2 (Bardet-Biedl syndrome 2)
Heterocephalus glaber (naked mole-rat) : Bbs2 (Bardet-Biedl syndrome 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1656,466,836 - 56,520,087 (-)EnsemblGRCh38hg38GRCh38
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)

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


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

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

RGD Object Information
RGD ID: 732435
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE


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