BBS2 (Bardet-Biedl syndrome 2)

2014-11-01  

Identity

HGNC
BBS2
LOCATION
16q13
LOCUSID
583
ALIAS
BBS,RP74
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125124ENST00000245157Q9BXC9
ENSG00000125124ENST00000561877H3BNS7
ENSG00000125124ENST00000562012H3BQ79
ENSG00000125124ENST00000564123J3QKP7
ENSG00000125124ENST00000564459J3QLW0
ENSG00000125124ENST00000568104H3BRL0

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
115671392001Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.156
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
125673242003Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.68
128376892003Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.64
182995752008Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.47
170033562006Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.25
196664862009Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.20
255418402015Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11

Citation

Dessen P

BBS2 (Bardet-Biedl syndrome 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60717/bbs2