ATP6V0A2

GENERAL INFORMATION

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Gene name

ATP6V0A2

Gene description

ATPase, H+ transporting, lysosomal V0 subunit a2

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues showed moderate cytoplasmic positivity. Additional membranous staining was observed in breast, endometrial glands, respiratory epithelia and fallopian tube. Exocrine pancreas, testis and placental decidual cells were strongly stained. The liver, glial cells and spleen were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA044279
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ATP6V0A2 (HGNC Symbol)

Synonyms

a2, ATP6a2, ATP6N1D, J6B7, Stv1, TJ6, TJ6M, TJ6s, Vph1

Description

ATPase, H+ transporting, lysosomal V0 subunit a2 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

Chromosome

12

Cytoband

q24.31

Chromosome location (bp)

123712318 - 123761755

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185344 (version 78.38)

Entrez gene

23545

UniProt

Q9Y487 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y487

Antibodypedia

ATP6V0A2 antibodies


PROTEIN BROWSER

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ENST00000330342
 
ENST00000504192
 
ENST00000534943
 
ENST00000544833
 
ENST00000613625
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATP6V0A2-001 ENSP00000332247
ENST00000330342
Q9Y487
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Show » Show » 856 98.1 No 7
ATP6V0A2-003 ENSP00000443441
ENST00000504192
F5H5F3
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Show » Show » 328 38.1 No 1
ATP6V0A2-006 ENSP00000443726
ENST00000534943
F5H847
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Show » Show » 131 14.8 No 3
ATP6V0A2-007 ENSP00000441143
ENST00000544833
F5GX48
Show all »
Show » Show » 138 15.5 No 3
ATP6V0A2-201 ENSP00000482236
ENST00000613625
Q8TBM3
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Show » Show » 372 43.2 No 0