2. Gene
  3. ATP6V1C2 - ATPase H+ transporting V1 subunit C2 Gene

ATP6V1C2 - ATPase H+ transporting V1 subunit C2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as VMA5; ATP6C2

Gene ID: 245973 | Gene type: protein coding

About ATP6V1C2

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:10,720,943-10,785,110 (from NCBI)

This gene has 5 transcripts (splice variants), 196 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 47.0), skin (RPKM 40.5) and 25 other tissues.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit Enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]

ATP6V1C2 Products(3)

mRNA Protein Name
NM_001039362.2 NP_001034451.1 V-type proton ATPase subunit C 2 isoform a
NM_001410707.1 NP_001397636.1 V-type proton ATPase subunit C 2 isoform c
NM_144583.4 NP_653184.2 V-type proton ATPase subunit C 2 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
21356312 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
20093472 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6V1C2 Protein Structure

V-ATPase_C

V-ATPase_C: V-ATPase subunit C (4 - 417)

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  • 427 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase subunit C 2

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2

Related Diseases

Diseases Alias
Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01227 ATP6V1C2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris ATP6V1C2 VGNC VGNC:38279
Bos taurus ATP6V1C2 VGNC VGNC:26320
Macaca mulatta ATP6V1C2 VGNC VGNC:70091
Rattus norvegicus ATP6V1C2 RGD RGD:1359430
Felis catus ATP6V1C2 VGNC VGNC:60023
Mus musculus ATP6V1C2 MGD MGI:1916025