help  | about  | cite  | software

Gene : ATP6V0A2 Homo sapiens

Name  ? ATPase H+ transporting V0 subunit a2 Cytological Location  12q24.31
Brief Description  ATPase H transporting V0 subunit a2
Description  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]
  • synonyms:
  • A2,
  • ATP6V0A2,
  • ARCL,
  • uc001ufr.4,
  • Stv1,
  • ATP6N1D,
  • TJ6M,
  • TJ6s,
  • J6B7,
  • Vph1,
  • TJ6,
  • ATP6A2,
  • ATP6N1D,
  • ATPase, H+ transporting, lysosomal V0 subunit a isoform 2,
  • ATP6a2,
  • OTTHUMG00000168723,
  • infantile malignant osteopetrosis,
  • TJ6,
  • ARCL2A,
  • TJ6M,
  • WSS,
  • a2,
  • TJ6S,
  • J6B7,
  • NM_012463,
  • ATPase, H+ transporting, lysosomal V0 subunit a2,
  • STV1,
  • AF112972,
  • HGNC:18481,
  • ATPase, H+ transporting, lysosomal V0 subunit A2,
  • RTF,
  • VPH1
  • identifiers:
  • 23545,
  • ENSG00000185344,
  • ATP6V0A2

Genome feature

Region: gene ? Length: 49403  
Location: 12:123712353-123761755 Cyto location: 12q24.31


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

20 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results