BBS10 (Bardet-Biedl syndrome 10)

2014-11-01  

Identity

HGNC
BBS10
LOCATION
12q21.2
LOCUSID
79738
ALIAS
C12orf58
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79738
MIM: 610148
HGNC: 26291
Ensembl: ENSG00000179941

Variants:

dbSNP: 79738
ClinVar: 79738
TCGA: ENSG00000179941
COSMIC: BBS10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179941ENST00000650064Q8TAM1

Expression (GTEx)

0
5
10
15
20
25
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
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
191901842009Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.58
204726602010Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.22
254390972014A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.12
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
232199962013Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.9
208053672010BBS10 mutations are common in 'Meckel'-type cystic kidneys.8
234320272014Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.8
244006382015Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.6
246115922014Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.6
287613212017Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.5

Citation

Dessen P

BBS10 (Bardet-Biedl syndrome 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60715/bbs10-(bardet-biedl-syndrome-10)