ABCC12 (ATP binding cassette subfamily C member 12)

2014-11-01  

Identity

HGNC
ABCC12
LOCATION
16q12.1
LOCUSID
94160
ALIAS
MRP9

Other Information

Locus ID:

NCBI: 94160
MIM: 607041
HGNC: 14640
Ensembl: ENSG00000140798

Variants:

dbSNP: 94160
ClinVar: 94160
TCGA: ENSG00000140798
COSMIC: ABCC12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140798ENST00000311303Q96J65
ENSG00000140798ENST00000497206Q96J65
ENSG00000140798ENST00000497206A0A024R6Q5
ENSG00000140798ENST00000527640E9PHY2
ENSG00000140798ENST00000529084Q96J65
ENSG00000140798ENST00000529504Q96J65
ENSG00000140798ENST00000532494Q96J65
ENSG00000140798ENST00000532494A0A024R6Q5
ENSG00000140798ENST00000533639B4DYN2
ENSG00000140798ENST00000534418Q96J65
ENSG00000140798ENST00000649885A0A3B3ITL4

Expression (GTEx)

0
5
10
15
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
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
337715532021Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.6
337715532021Deleterious Variants in ABCC12 are Detected in Idiopathic Chronic Cholestasis and Cause Intrahepatic Bile Duct Loss in Model Organisms.6
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
116889992001Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.25
116889992001Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12.25

Citation

Dessen P

ABCC12 (ATP binding cassette subfamily C member 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60036/deep-insight-explorer/teaching-explorer/js/lib/popper.js