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  2. PPA2 - inorganic pyrophosphatase 2 Gene

PPA2 - inorganic pyrophosphatase 2 Gene

中文名称:无机焦磷酸酶 2

种属: Homo sapiens

同用名: SCFI; SCFAI; HSPC124; SID6-306

基因 ID: 27068 | 基因类型: protein coding

关于 PPA2

Cytogenetic location: 4q24 Genomic coordinates (GRCh38): 4:105,369,077-105,474,070 (from NCBI)

This gene has 22 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 25.8), colon (RPKM 25.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质定位于线粒体,与无机焦磷酸酶 (PPase) 家族的成员高度相似,并且包含 PPase 催化活性所必需的特征序列。 PPases 催化焦磷酸盐水解成无机磷酸盐,这对细胞的磷酸盐代谢很重要。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

PPA2 基因产物(4)

mRNA Protein Name
NM_006903.4 NP_008834.3 inorganic pyrophosphatase 2, mitochondrial isoform 2 precursor
NM_176866.2 NP_789842.2 inorganic pyrophosphatase 2, mitochondrial isoform 3 precursor
NM_176867.3 NP_789843.2 inorganic pyrophosphatase 2, mitochondrial isoform 4 precursor
NM_176869.3 NP_789845.1 inorganic pyrophosphatase 2, mitochondrial isoform 1 precursor

PPA2 蛋白结构

Pyrophosphatase

Pyrophosphatase: Inorganic pyrophosphatase (93 - 276)

  • 0
  • 100
  • 200
  • 300
  • 334 a.a.
蛋白主名 其他名称

inorganic pyrophosphatase 2, mitochondrial

PPase 2

关联疾病

疾病名称 别名
Sudden Cardiac Failure, Alcohol-Induced

SCFAI

Sudden Cardiac Failure, Infantile

SCFI

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Variola Minor

Alastrim

Cottonpox

Milkpox

Whitepox

Erythrasma

Infection Due To Corynebacterium Minutissimum

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

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

直系同源

种属 基因名 来源 基因 ID
Felis catus PPA2 VGNC VGNC:82522
Rattus norvegicus PPA2 RGD RGD:1307965
Mus musculus PPA2 MGD MGI:1922026
Canis familiaris PPA2 VGNC VGNC:81245
Macaca mulatta PPA2 VGNC VGNC:96721
Bos taurus PPA2 VGNC VGNC:56353
Others PPA2 NCBI