ATP6V0D2 - ATPase H+ transporting V0 subunit d2 Gene

Also Known as VMA6; ATP6D2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 245972

About ATP6V0D2

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:86,098,910-86,154,225 (from NCBI)

This gene has 3 transcripts (splice variants), 173 orthologues and 1 paralogue. Biased expression in kidney (RPKM 22.7) and colon (RPKM 1.1).

Summary

Predicted to enable proton transmembrane transporter activity. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

ATP6V0D2 Products (1)

mRNA Protein Name
NM_152565.1 NP_689778.1 V-type proton ATPase subunit d 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
18752060 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
15800125 GOA
located in membrane IDA
IDA: Inferred from direct assay
18752060 GOA
part of vacuolar proton-transporting V-type ATPase complex IDA
IDA: Inferred from direct assay
18752060 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

ATP6V0D2 Protein Structure

vATP-synt_AC39

vATP-synt_AC39: ATP synthase (C/AC39) subunit (15 - 347)

  • 0
  • 100
  • 200
  • 300
  • 350 a.a.
Protein Preferred Names Protein Names

V-type proton ATPase subunit d 2

  • ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2

ATP6V0D2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATP6V0D2 Q8N8Y2 CENPP Homo sapiens Q6IPU0 32296183
Intra
ATP6V0D2 Q8N8Y2 CENPP Homo sapiens Q6IPU0 32296183
Intra
ATP6V0D2 Q8N8Y2 RIBC1 Homo sapiens Q8N443 32296183
Intra
ATP6V0D2 Q8N8Y2 RIBC1 Homo sapiens Q8N443 32296183
Intra
ATP6V0D2 Q8N8Y2 PHF12 Homo sapiens Q96QT6-2 32296183
Intra
ATP6V0D2 Q8N8Y2 PHF12 Homo sapiens Q96QT6-2 32296183
Intra
ATP6V0D2 Q8N8Y2 PHF12 Homo sapiens Q96QT6-2 32296183
Intra
ATP6V0D2 Q8N8Y2 REL Homo sapiens Q04864-2 32296183
Intra
ATP6V0D2 Q8N8Y2 REL Homo sapiens Q04864-2 32296183
Intra
ATP6V0D2 Q8N8Y2 SEPTIN2 Homo sapiens Q15019-3 32296183
Intra
ATP6V0D2 Q8N8Y2 SEPTIN2 Homo sapiens Q15019-3 32296183
Intra
ATP6V0D2 Q8N8Y2 POMC Homo sapiens P01189 32296183
Intra
ATP6V0D2 Q8N8Y2 POMC Homo sapiens P01189 32296183
Intra
ATP6V0D2 Q8N8Y2 NICN1 Homo sapiens Q9BSH3 32296183
Intra
ATP6V0D2 Q8N8Y2 NICN1 Homo sapiens Q9BSH3 32296183
Intra
ATP6V0D2 Q8N8Y2 NICN1 Homo sapiens Q9BSH3 32296183
Intra
ATP6V0D2 Q8N8Y2 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
ATP6V0D2 Q8N8Y2 MEOX2 Homo sapiens Q6FHY5 32296183
Intra
ATP6V0D2 Q8N8Y2 ZNF474 Homo sapiens Q6S9Z5 32296183
Intra
ATP6V0D2 Q8N8Y2 ZNF474 Homo sapiens Q6S9Z5 32296183
Intra
ATP6V0D2 Q8N8Y2 RUSC1 Homo sapiens Q9BVN2 32296183
Intra
ATP6V0D2 Q8N8Y2 RUSC1 Homo sapiens Q9BVN2 32296183
Intra
ATP6V0D2 Q8N8Y2 RUSC1 Homo sapiens Q9BVN2 32296183
Intra
ATP6V0D2 Q8N8Y2 INCA1 Homo sapiens Q0VD86 32296183
Intra
ATP6V0D2 Q8N8Y2 INCA1 Homo sapiens Q0VD86 32296183
Intra
ATP6V0D2 Q8N8Y2 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
ATP6V0D2 Q8N8Y2 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
ATP6V0D2 Q8N8Y2 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
ATP6V0D2 Q8N8Y2 PAX6 Homo sapiens P26367 32296183
Intra
ATP6V0D2 Q8N8Y2 PAX6 Homo sapiens P26367 32296183
Intra
ATP6V0D2 Q8N8Y2 CRX Homo sapiens O43186 32296183
Intra
ATP6V0D2 Q8N8Y2 CRX Homo sapiens O43186 32296183
Intra
ATP6V0D2 Q8N8Y2 ARID5A Homo sapiens Q03989 32296183
Intra
ATP6V0D2 Q8N8Y2 ARID5A Homo sapiens Q03989 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Distal Renal Tubular Acidosis
  • Classic Rta

  • Familial Distal Primary Acidosis

  • Renal Tubular Acidosis Type 1

  • Drta

  • Renal Tubular Acidosis, Distal

Osteopetrosis, Autosomal Recessive 3
  • Osteopetrosis With Renal Tubular Acidosis

  • Marble Brain Disease

  • OPTB3

  • Guibaud-Vainsel Syndrome

  • Carbonic Anhydrase Ii Deficiency

  • Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

  • Autosomal Recessive Osteopetrosis 3

  • Carbonic Anhydrase 2 Deficiency

  • Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

  • Osteopetrosis Autosomal Recessive 3

  • Autosomal Recessive Osteopetrosis Type 3

  • Guibaud Vainsel Syndrome

  • Mixed Rta

  • Mixed Renal Tubular Acidosis

  • Renal Tubular Acidosis Type 3

  • Carbonic Anhydrase Ii Deficiency Syndrome

  • Carbonic Anhydrase Ii Variant

  • Osteopetrosis, Autosomal Recessive, Type 3

  • Carbonic Anhydrase 2

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

Orthologs Information

Species Symbol Source ID
Felis catus ATP6V0D2 VGNC VGNC:99682
Canis familiaris ATP6V0D2 VGNC VGNC:38274
Bos taurus ATP6V0D2 VGNC VGNC:26313
Rattus norvegicus ATP6V0D2 RGD RGD:1306900
Mus musculus ATP6V0D2 MGD MGI:1924415
Macaca mulatta ATP6V0D2 VGNC VGNC:70093
Others ATP6V0D2 NCBI