2. Gene
  3. ATP6V0D2 - ATPase H+ transporting V0 subunit d2 Gene

ATP6V0D2 - ATPase H+ transporting V0 subunit d2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ATPase H+ 转运 V0 亚基 d2

种属: Homo sapiens

同用名: VMA6; ATP6D2

基因 ID: 245972 | 基因类型: protein coding

关于 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).

功能概要

预测可启用质子跨膜转运蛋白活性。预计参与液泡酸化和液泡运输。位于顶端质膜。液泡质子传输 V 型 ATP 酶复合物的一部分。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_152565.1 NP_689778.1 V-type proton ATPase subunit d 2

ATP6V0D2 蛋白结构

vATP-synt_AC39

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

  • 0
  • 100
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  • 350 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit d 2

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

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01222 ATP6V0D2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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