BBS2 (Bardet-Biedl syndrome 2)

2014-11-01 Affiliation

Identity

HGNC

BBS2

LOCATION

16q13

LOCUSID

583

ALIAS

BBS,RP74

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 583
MIM: 606151
HGNC: 967
Ensembl: ENSG00000125124

Variants:

dbSNP: 583
ClinVar: 583
TCGA: ENSG00000125124
COSMIC: BBS2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000125124	ENST00000245157	Q9BXC9
ENSG00000125124	ENST00000561877	H3BNS7
ENSG00000125124	ENST00000562012	H3BQ79
ENSG00000125124	ENST00000564123	J3QKP7
ENSG00000125124	ENST00000564459	J3QLW0
ENSG00000125124	ENST00000568104	H3BRL0

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Cargo trafficking to the periciliary membrane	REACTOME	R-HSA-5620920
BBSome-mediated cargo-targeting to cilium	REACTOME	R-HSA-5620922

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36672825	2022	Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.	2
36672825	2022	Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations.	2
33688495	2021	Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.	0
33688495	2021	Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.	0
32620959	2020	Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.	6
32620959	2020	Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice.	6
31530639	2019	Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.	5
31530639	2019	Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex.	5
24400638	2015	Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.	17
25541840	2015	Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.	25
26078953	2015	Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.	6
24400638	2015	Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.	17
25541840	2015	Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.	25
26078953	2015	Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.	6
23432027	2014	Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.	16

Citation

Dessen P

BBS2 (Bardet-Biedl syndrome 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60717