ATP6V0D2 - ATPase H+ transporting V0 subunit d2 Gene

Homo sapiens

Also known as VMA6; ATP6D2

Gene ID: 245972 | Gene type: protein coding

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

ATP6V0D2 Protein Structure

vATP-synt_AC39

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01222	ATP6V0D2 Human Pre-designed siRNA Set A		/	Unkown

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

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