BBS4 (Bardet-Biedl syndrome 4)

2014-11-01  

Identity

HGNC
BBS4
LOCATION
15q24.1
LOCUSID
585
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 585
MIM: 600374
HGNC: 969
Ensembl: ENSG00000140463

Variants:

dbSNP: 585
ClinVar: 585
TCGA: ENSG00000140463
COSMIC: BBS4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140463ENST00000268057Q96RK4
ENSG00000140463ENST00000268057A0A0S2Z3A9
ENSG00000140463ENST00000395205Q96RK4
ENSG00000140463ENST00000561914H3BUU1
ENSG00000140463ENST00000562084H3BN76
ENSG00000140463ENST00000563600H3BUQ7
ENSG00000140463ENST00000565160H3BPP7
ENSG00000140463ENST00000566197H3BU58
ENSG00000140463ENST00000566400H3BRY9
ENSG00000140463ENST00000566829H3BQV7
ENSG00000140463ENST00000566938H3BRY9
ENSG00000140463ENST00000567279H3BSE2
ENSG00000140463ENST00000569338H3BSL2
ENSG00000140463ENST00000569440H3BV56

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
328944992021BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response.3
338608402021BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development.2
339640062021Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.4
328944992021BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response.3
338608402021BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development.2
339640062021Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.4
327593082020The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.12
327593082020The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.12
246817832014Basal body proteins regulate Notch signaling through endosomal trafficking.52
246914432014Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.52
248673032014BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.10
255338202014A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.5
246817832014Basal body proteins regulate Notch signaling through endosomal trafficking.52
246914432014Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.52
248673032014BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.10

Citation

Dessen P

BBS4 (Bardet-Biedl syndrome 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60718/bbs4-(bardet-biedl-syndrome-4)