BORCS8 (BLOC-1 related complex subunit 8)

2015-09-01  

Identity

HGNC
BORCS8
LOCATION
19p13.11
LOCUSID
729991
ALIAS
MEF2BNB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 729991
MIM: 616601
HGNC: 37247
Ensembl: ENSG00000254901

Variants:

dbSNP: 729991
ClinVar: 729991
TCGA: ENSG00000254901
COSMIC: BORCS8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000254901ENST00000462790Q96FH0
ENSG00000254901ENST00000477565Q96FH0
ENSG00000254901ENST00000488252Q96FH0
ENSG00000254901ENST00000585679U3KPZ4
ENSG00000254901ENST00000588208K7ENY0

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

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
381285682024Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.1
381285682024Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.1
367176012023BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.0
367176012023BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.0
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

Citation

Dessen P

BORCS8 (BLOC-1 related complex subunit 8)

Atlas Genet Cytogenet Oncol Haematol. 2015-09-01

Online version: http://atlasgeneticsoncology.org/gene/77754