Bardet-Biedl syndrome 2 (human) (Q21418946)

Bardet-Biedl syndrome 2 protein

1 reference

membrane protein

1 reference

inferred from GOA cell component → membrane

Ciliary BBSome complex subunit 2, N-terminal domain, protein family

1 reference

inferred from protein domain or family

Ciliary BBSome complex subunit 2, C-terminal domain, protein family

1 reference

inferred from protein domain or family

Ciliary BBSome complex subunit 2, middle region, protein family

1 reference

inferred from protein domain or family

1 reference

25 May 2022

1 reference

25 May 2022

IPI

1 reference

9 May 2019

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

IPI

cell component

cytoplasm

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

ciliary basal body

The BBSome controls IFT assembly and turnaround in cilia

3 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

cell projection

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

BBSome

7 references

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

plasma membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

cilium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

stereocilium

1 reference

9 May 2019

Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

microtubule organizing center

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

microvillus

1 reference

9 May 2019

Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

ciliary membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

motile cilium

3 references

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

24 April 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9CWF6&geneProductId=UniProtKB:Q9CWF6

cytoskeleton

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

membrane

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

3 references

9 May 2019

9 May 2019

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

motile cilium

4 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

BBSome

8 references

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

neuron projection

1 reference

9 May 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

protein localization to organelle

biological process

1 reference

9 May 2019

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

protein localization

cilium assembly

1 reference

14 February 2019

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

regulation of cilium beat frequency involved in ciliary motility

1 reference

9 May 2019

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

negative regulation of appetite by leptin-mediated signaling pathway

1 reference

9 May 2019

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

leptin-mediated signaling pathway

1 reference

9 May 2019

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

negative regulation of multicellular organism growth

1 reference

9 May 2019

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

vasodilation

1 reference

9 May 2019

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

sperm axoneme assembly

1 reference

9 May 2019

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

cartilage development

1 reference

9 May 2019

Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

adult behavior

1 reference

9 May 2019

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

cell projection organization

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

artery smooth muscle contraction

1 reference

9 May 2019

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

cerebral cortex development

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

positive regulation of multicellular organism growth

1 reference

9 May 2019

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

protein transport

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

1 reference

9 May 2019

photoreceptor cell maintenance

1 reference

9 May 2019

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

response to leptin

1 reference

9 May 2019

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

hippocampus development

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

fat cell differentiation

IEP

1 reference

9 May 2019

Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

IEP

striatum development

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

brain morphogenesis

1 reference

9 May 2019

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

visual perception

ISS

non-motile cilium assembly

protein localization to ciliary membrane

1 reference

9 May 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9CWF6

Ciliary BBSome complex subunit 2, C-terminal domain

has part(s)

1 reference

Ciliary BBSome complex subunit 2, N-terminal

1 reference

Ciliary BBSome complex subunit 2, middle region

1 reference