ATP6V1C2 (ATPase H+ transporting V1 subunit C2)

2014-11-01  

Identity

HGNC
ATP6V1C2
LOCATION
2p25.1
LOCUSID
245973
ALIAS
ATP6C2,VMA5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 245973
MIM: 618070
HGNC: 18264
Ensembl: ENSG00000143882

Variants:

dbSNP: 245973
ClinVar: 245973
TCGA: ENSG00000143882
COSMIC: ATP6V1C2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143882ENST00000272238Q8NEY4
ENSG00000143882ENST00000381661Q8NEY4
ENSG00000143882ENST00000635370A0A0U1RR16
ENSG00000143882ENST00000648362A0A3B3IRZ7

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
Oxidative phosphorylationKEGGko00190
mTOR signaling pathwayKEGGko04150
Vibrio cholerae infectionKEGGko05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGko05120
Oxidative phosphorylationKEGGhsa00190
mTOR signaling pathwayKEGGhsa04150
Vibrio cholerae infectionKEGGhsa05110
Epithelial cell signaling in Helicobacter pylori infectionKEGGhsa05120
Metabolic pathwaysKEGGhsa01100
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Rheumatoid arthritisKEGGko05323
Rheumatoid arthritisKEGGhsa05323
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
V-type ATPase, eukaryotesKEGGhsa_M00160
V-type ATPase, eukaryotesKEGGM00160
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor recyclingREACTOMER-HSA-77387
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937
Transferrin endocytosis and recyclingREACTOMER-HSA-917977
Ion channel transportREACTOMER-HSA-983712

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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
319018592020Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma.13
319593582020Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.17
319018592020Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma.13
319593582020Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

ATP6V1C2 (ATPase H+ transporting V1 subunit C2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60643/gene-explorer/css/hgnc