1. Gene
  2. SH3GL2 - SH3 domain containing GRB2 like 2, endophilin A1 Gene

SH3GL2 - SH3 domain containing GRB2 like 2, endophilin A1 Gene

中文名称:含 SH3 结构域的 GRB2 样 2、嗜内源性蛋白 A1

种属: Homo sapiens

同用名: CNSA2; SH3P4; EEN-B1; SH3D2A

基因 ID: 6456 | 基因类型: protein coding

关于 SH3GL2

Cytogenetic location: 9p22.2 Genomic coordinates (GRCh38): 9:17,579,066-17,797,124 (from NCBI)

This gene has 2 transcripts (splice variants), 182 orthologues and 12 paralogues. Biased expression in brain (RPKM 24.2), kidney (RPKM 2.6) and 1 other tissue.

功能概要

实现相同的蛋白质结合活性。参与血脑屏障通透性的负调节;基因表达的负调控;和蛋白质磷酸化的负调节。位于细胞质的核周区。 [由基因组资源联盟提供,2022 年 4 月]

Enables identical protein binding activity. Involved in negative regulation of blood-brain barrier permeability; negative regulation of gene expression; and negative regulation of protein phosphorylation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

SH3GL2 基因产物(1)

mRNA Protein Name
NM_003026.5 NP_003017.1 endophilin-A1
蛋白主名 其他名称

endophilin-A1

Endophilin A1 BAR domain

关联疾病

疾病名称 别名
Childhood Pilocytic Astrocytoma

Pediatric Pilocytic Astrocytoma

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson 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
Macaca mulatta SH3GL2 VGNC VGNC:77204
Rattus norvegicus SH3GL2 RGD RGD:620276
Mus musculus SH3GL2 MGD MGI:700009
Canis familiaris SH3GL2 VGNC VGNC:46125
Bos taurus SH3GL2 VGNC VGNC:34573
Felis catus SH3GL2 VGNC VGNC:65107