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  2. PPP6R2 - protein phosphatase 6 regulatory subunit 2 Gene

PPP6R2 - protein phosphatase 6 regulatory subunit 2 Gene

中文名称:蛋白磷酸酶 6 调节亚基 2

种属: Homo sapiens

同用名: PP6R2; SAPS2; SAP190; KIAA0685

基因 ID: 9701 | 基因类型: protein coding

关于 PPP6R2

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,330,774-50,445,090 (from NCBI)

This gene has 9 transcripts (splice variants), 285 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 24.1), brain (RPKM 12.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是蛋白磷酸酶 6 催化亚基的调节蛋白。这些蛋白质共同充当 Aurora A 的重要 T 环磷酸酶,Aurora A 是一种必需的有丝分裂激酶。蛋白磷酸酶 6 的调节亚基或催化亚基的功能丧失会干扰纺锤体形成和染色体排列。[RefSeq 提供,2017 年 5 月]

The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop Phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]

PPP6R2 基因产物(13)

mRNA Protein Name
NM_001242898.2 NP_001229827.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 1
NM_001242899.2 NP_001229828.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 2
NM_001242900.2 NP_001229829.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 4
NM_001351641.2 NP_001338570.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 5
NM_001351642.2 NP_001338571.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 6
NM_001351643.2 NP_001338572.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 1
NM_001351644.2 NP_001338573.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 7
NM_001351645.2 NP_001338574.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 3
NM_001351646.2 NP_001338575.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 8
NM_001351647.2 NP_001338576.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 9
NM_001351648.2 NP_001338577.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 10
NM_001365836.1 NP_001352765.1 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 11
NM_014678.5 NP_055493.2 serine/threonine-protein phosphatase 6 regulatory subunit 2 isoform 3

PPP6R2 蛋白结构

SAPS

SAPS: SIT4 phosphatase-associated protein (129 - 360)

SAPS

SAPS: SIT4 phosphatase-associated protein (361 - 531)

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  • 966 a.a.
蛋白主名 其他名称

serine/threonine-protein phosphatase 6 regulatory subunit 2

SAPS domain family, member 2

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

Acute Cor Pulmonale
Acute Pulmonary Heart Disease
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
Bos taurus PPP6R2 VGNC VGNC:33274
Macaca mulatta PPP6R2 VGNC VGNC:76288
Rattus norvegicus PPP6R2 RGD RGD:1563990
Mus musculus PPP6R2 MGD MGI:1918724
Felis catus PPP6R2 VGNC VGNC:64333
Canis familiaris PPP6R2 VGNC VGNC:44926