BBS5 (Bardet-Biedl syndrome 5)

2014-11-01  

Identity

HGNC
BBS5
LOCATION
2q31.1
LOCUSID
129880
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 129880
MIM: 603650
HGNC: 970
Ensembl: ENSG00000163093

Variants:

dbSNP: 129880
ClinVar: 129880
TCGA: ENSG00000163093
COSMIC: BBS5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163093ENST00000295240Q8N3I7
ENSG00000163093ENST00000295240A0A0S2Z626
ENSG00000163093ENST00000392663Q8N3I7
ENSG00000163093ENST00000392663A0A0S2Z6S7
ENSG00000163093ENST00000443151F8WBR7

Expression (GTEx)

0
5
10
15
20
25
30
35
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
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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
151379462004Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.294
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
190774382009Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.10
182031992008Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.7
308503972019Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing.6
275205852016Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2.4
268670082016A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.3

Citation

Dessen P

BBS5 (Bardet-Biedl syndrome 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60719/bbs5