2. Gene
  3. PEAK3 - PEAK family member 3 Gene

PEAK3 - PEAK family member 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：PEAK 家族成员 3

种属: Homo sapiens

同用名: C19orf35

基因 ID: 374872 | 基因类型: protein coding

关于 PEAK3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,274,631-2,282,175 (from NCBI)

This gene has 1 transcript (splice variant), 52 orthologues and 3 paralogues. Low expression observed in reference dataset.

功能概要

使蛋白质自缔合。参与肌动蛋白细胞骨架组织的调节和细胞形状的调节。预计在肌动蛋白细胞骨架和粘着斑中具有活性。 [由基因组资源联盟提供，2022 年 4 月]

Enables protein self-association. Involved in regulation of actin Cytoskeleton organization and regulation of cell shape. Predicted to be active in actin Cytoskeleton and focal adhesion. [provided by Alliance of Genome Resources, Apr 2022]

PEAK3 基因产物(1)

mRNA Protein Name
NM_198532.3 NP_940934.1 protein PEAK3
基因本体论
  • 分子功能
  • 生物过程
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
31311869 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of actin cytoskeleton organization IMP
IMP: 通过突变表型推断
31311869 GOA
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
31311869 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
蛋白主名 其他名称

protein PEAK3

关联疾病

疾病名称 别名
X-Linked Nephrolithiasis Type I

Nephrolithiasis 1

Nephrolithiasis X-Linked Recessive Type 1

Nphl1

X-Linked Nephrolithiasis With Renal Failure

X-Linked Recessive Urolithiasis Type 1

Xrn
Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia

Bilateral Optic Nerve Hypoplasia

Optic Nerve Hypoplasia, Familial Bilateral

Familial Bilateral Optic Nerve Hypoplasia

Isolated Optic Nerve Hypoplasia/Aplasia

Optic Nerve Aplasia, Bilateral

Onh

BONH

Bilateral Optic Nerve Aplasia

Hypoplasia, Optic Nerve, Bilateral
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-RS10311 PEAK3 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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