1. Gene
  2. PLEKHH2 - pleckstrin homology, MyTH4 and FERM domain containing H2 Gene

PLEKHH2 - pleckstrin homology, MyTH4 and FERM domain containing H2 Gene

中文名称:含 pleckstrin 同源性、MyTH4 和 FERM 结构域 H2

种属: Homo sapiens

同用名: PLEKHH1L

基因 ID: 130271 | 基因类型: protein coding

关于 PLEKHH2

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:43,637,260-43,767,987 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 1 paralogue. Broad expression in lung (RPKM 15.4), endometrium (RPKM 10.8) and 21 other tissues.

功能概要

预测启用肌动蛋白结合活性。预计参与肌动蛋白丝解聚的负调控。位于几种细胞成分中,包括细胞质;片状足;和核体。 [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 negative regulation of actin filament depolymerization. Located in several cellular components, including cytosol; lamellipodium; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHH2 基因产物(1)

mRNA Protein Name
NM_172069.4 NP_742066.2 pleckstrin homology domain-containing family H member 2

PLEKHH2 蛋白结构

PH

PH: PH domain (705 - 796)

MyTH4

MyTH4: MyTH4 domain (999 - 1109)

FERM_M

FERM_M: FERM central domain (1235 - 1354)

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  • 1493 a.a.
蛋白主名 其他名称

pleckstrin homology domain-containing family H member 2

pleckstrin homology domain containing, family H (with MyTH4 domain) member 2

关联疾病

疾病名称 别名
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

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
Canis familiaris PLEKHH2 VGNC VGNC:44683
Felis catus PLEKHH2 VGNC VGNC:64234
Bos taurus PLEKHH2 VGNC VGNC:33021
Macaca mulatta PLEKHH2 VGNC VGNC:76146
Mus musculus PLEKHH2 MGD MGI:2146813
Rattus norvegicus PLEKHH2 RGD RGD:1304935