MVB12A (multivesicular body subunit 12A)

2014-11-01  

Identity

HGNC
MVB12A
LOCATION
19p13.11
LOCUSID
93343
ALIAS
CFBP,FAM125A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 93343
HGNC: 25153
Ensembl: ENSG00000141971

Variants:

dbSNP: 93343
ClinVar: 93343
TCGA: ENSG00000141971
COSMIC: MVB12A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141971ENST00000317040Q96EY5
ENSG00000141971ENST00000317040A0A024R7L6
ENSG00000141971ENST00000528515E9PJW8
ENSG00000141971ENST00000528604E9PLZ8
ENSG00000141971ENST00000528911E9PLL0
ENSG00000141971ENST00000529939E9PQA6
ENSG00000141971ENST00000543795Q96EY5
ENSG00000141971ENST00000543795A0A024R7L6
ENSG00000141971ENST00000594784M0QZK6
ENSG00000141971ENST00000600514E9PLL0

Expression (GTEx)

0
10
20
30
40
50
60
70
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ESCRT-I complexKEGGhsa_M00409
ESCRT-I complexKEGGM00409

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
324243462020A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission.29
324243462020A helical assembly of human ESCRT-I scaffolds reverse-topology membrane scission.29
206545762010Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.11
206545762010Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.11
168959192006CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP.8
168959192006CFBP is a novel tyrosine-phosphorylated protein that might function as a regulator of CIN85/CD2AP.8

Citation

Dessen P

MVB12A (multivesicular body subunit 12A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70587/mvb12a-(multivesicular-body-subunit-12a)