MVB12B (multivesicular body subunit 12B)

2014-11-01  

Identity

HGNC
MVB12B
LOCATION
9q33.3
LOCUSID
89853
ALIAS
C9orf28,FAM125B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 89853
HGNC: 23368
Ensembl: ENSG00000196814

Variants:

dbSNP: 89853
ClinVar: 89853
TCGA: ENSG00000196814
COSMIC: MVB12B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196814ENST00000361171Q9H7P6
ENSG00000196814ENST00000361171A0A024R8B8
ENSG00000196814ENST00000402437F8W922
ENSG00000196814ENST00000489637Q9H7P6

Expression (GTEx)

0
50
100
150
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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
222326512012Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit.19
245186712014A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.14
205831702010Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.8
206545762010Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications.7

Citation

Dessen P

MVB12B (multivesicular body subunit 12B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70588/mvb12b