1. Gene
  2. PHACTR2 - phosphatase and actin regulator 2 Gene

PHACTR2 - phosphatase and actin regulator 2 Gene

中文名称:磷酸酶和肌动蛋白调节因子 2

种属: Homo sapiens

同用名: C6orf56

基因 ID: 9749 | 基因类型: protein coding

关于 PHACTR2

Cytogenetic location: 6q24.2 Genomic coordinates (GRCh38): 6:143,536,878-143,831,185 (from NCBI)

This gene has 12 transcripts (splice variants), 225 orthologues and 3 paralogues. Broad expression in placenta (RPKM 29.1), adrenal (RPKM 11.9) and 22 other tissues.

功能概要

预测启用肌动蛋白结合活性。预计参与肌动蛋白细胞骨架组织。预测位于质膜和血小板α颗粒膜。与帕金森病和多发性硬化症有关。阿尔茨海默病的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable actin binding activity. Predicted to be involved in actin Cytoskeleton organization. Predicted to be located in plasma membrane and platelet alpha granule membrane. Implicated in Parkinson's disease and multiple sclerosis. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2022]

PHACTR2 基因产物(6)

mRNA Protein Name
NM_001100164.2 NP_001093634.1 phosphatase and actin regulator 2 isoform 1
NM_001100165.2 NP_001093635.1 phosphatase and actin regulator 2 isoform 2
NM_001100166.2 NP_001093636.1 phosphatase and actin regulator 2 isoform 4
NM_001394736.1 NP_001381665.1 phosphatase and actin regulator 2 isoform 5
NM_001394738.1 NP_001381667.1 phosphatase and actin regulator 2 isoform 6
NM_014721.3 NP_055536.2 phosphatase and actin regulator 2 isoform 3
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PHACTR2 蛋白结构

RPEL

RPEL: RPEL repeat (61 - 84)

RPEL

RPEL: RPEL repeat (477 - 502)

RPEL

RPEL: RPEL repeat (516 - 539)

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  • 634 a.a.
蛋白主名 其他名称

phosphatase and actin regulator 2

关联疾病

疾病名称 别名
Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Lissencephaly 8

LIS8

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 PHACTR2 VGNC VGNC:32805
Macaca mulatta PHACTR2 VGNC VGNC:75840
Rattus norvegicus PHACTR2 RGD RGD:1303141
Felis catus PHACTR2 VGNC VGNC:64129
Canis familiaris PHACTR2 VGNC VGNC:44473
Mus musculus PHACTR2 MGD MGI:2446138