Fields »
ABOUT
HELP
BLOG
BBS2

Please wait until image is loaded before changing channels

GENERAL INFORMATION

Gene name

 BBS2

Gene description

 Bardet-Biedl syndrome 2

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 BBS2 (HGNC Symbol)

Synonyms

 BBS

Description

 Bardet-Biedl syndrome 2 (HGNC Symbol)

Entrez gene summary

 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 mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]

Chromosome

 16

Cytoband

 q13

Chromosome location (bp)

 56466836 - 56520283

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000125124 (version 83.38)

Entrez gene

 583

UniProt

 Q9BXC9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9BXC9

Antibodypedia

 BBS2 antibodies

PROTEIN BROWSER
BBS2-001
BBS2-005
BBS2-006
BBS2-020
BBS2-021

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BBS2-001
ENSP00000245157
ENST00000245157
Q9BXC9 [Direct mapping]
Bardet-Biedl syndrome 2 protein
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006996 [organelle organization]
GO:0007288 [sperm axoneme assembly]
GO:0007601 [visual perception]
GO:0008104 [protein localization]
GO:0010629 [negative regulation of gene expression]
GO:0014824 [artery smooth muscle contraction]
GO:0016020 [membrane]
GO:0021756 [striatum development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030534 [adult behavior]
GO:0031514 [motile cilium]
GO:0032402 [melanosome transport]
GO:0033210 [leptin-mediated signaling pathway]
GO:0033365 [protein localization to organelle]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
GO:0038108 [negative regulation of appetite by leptin-mediated signaling pathway]
GO:0040015 [negative regulation of multicellular organism growth]
GO:0040018 [positive regulation of multicellular organism growth]
GO:0042311 [vasodilation]
GO:0042384 [cilium assembly]
GO:0043001 [Golgi to plasma membrane protein transport]
GO:0044321 [response to leptin]
GO:0045444 [fat cell differentiation]
GO:0045494 [photoreceptor cell maintenance]
GO:0048854 [brain morphogenesis]
GO:0051216 [cartilage development]
GO:0060170 [ciliary membrane]
GO:0060271 [cilium morphogenesis]
GO:0060296 [regulation of cilium beat frequency involved in ciliary motility]
GO:1903441 [protein localization to ciliary membrane]
Show all
 721 aa
79.8 kDa 		No 0
BBS2-005
ENSP00000456289
ENST00000568104
H3BRL0 [Direct mapping]
Bardet-Biedl syndrome 2 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0016020 [membrane]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0042384 [cilium assembly]
GO:1903441 [protein localization to ciliary membrane]
Show all
 675 aa
74.6 kDa 		No 0
BBS2-006
ENSP00000456741
ENST00000569941
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 5 aa
0.6 kDa 		No 0
BBS2-020
ENSP00000463731
ENST00000564459
J3QLW0 [Direct mapping]
Bardet-Biedl syndrome 2 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0042384 [cilium assembly]
GO:1903441 [protein localization to ciliary membrane]
Show all
 142 aa
16.3 kDa 		No 0
BBS2-021
ENSP00000463176
ENST00000564123
J3QKP7 [Direct mapping]
Bardet-Biedl syndrome 2 protein
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016020 [membrane]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0042384 [cilium assembly]
GO:1903441 [protein localization to ciliary membrane]
Show all
 85 aa
9.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.