1. Gene
  2. AP1G2 - adaptor related protein complex 1 subunit gamma 2 Gene

AP1G2 - adaptor related protein complex 1 subunit gamma 2 Gene

中文名称:适配器相关蛋白复合物 1 亚基 γ 2

种属: Homo sapiens

同用名: G2AD

基因 ID: 8906 | 基因类型: protein coding

关于 AP1G2

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,559,567-23,567,791 (from NCBI)

This gene has 34 transcripts (splice variants), 186 orthologues and 4 paralogues. Ubiquitous expression in skin (RPKM 20.0), lymph node (RPKM 17.8) and 25 other tissues.

功能概要

适应蛋白是网格蛋白包被的囊泡的重要组成部分,可将配体-受体复合物从质膜或跨高尔基体网络转运至溶酶体。适应蛋白家族由四类分子组成,分别称为α、β-、β-和γ-适应蛋白。适应蛋白与中、小亚基一起形成称为适配器的异四聚体复合物,其作用是促进网格蛋白包被的小坑和小泡的形成。该基因编码的蛋白质是一种γ-适应蛋白,属于衔接复合物大亚基家族。这种蛋白质连同复合物被认为在跨高尔基体网络和细胞表面之间的复杂通路中的某些运输步骤中发挥作用。[RefSeq 提供,2017 年 8 月]

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]

AP1G2 基因产物(8)

mRNA Protein Name
NM_001282474.2 NP_001269403.1 AP-1 complex subunit gamma-like 2 isoform 2
NM_001282475.2 NP_001269404.1 AP-1 complex subunit gamma-like 2 isoform 3
NM_001354673.2 NP_001341602.1 AP-1 complex subunit gamma-like 2 isoform 4
NM_001354674.2 NP_001341603.1 AP-1 complex subunit gamma-like 2 isoform 2
NM_001354675.2 NP_001341604.1 AP-1 complex subunit gamma-like 2 isoform 2
NM_001354677.2 NP_001341606.1 AP-1 complex subunit gamma-like 2 isoform 2
NM_001354681.2 NP_001341610.1 AP-1 complex subunit gamma-like 2 isoform 2
NM_003917.5 NP_003908.1 AP-1 complex subunit gamma-like 2 isoform 1

AP1G2 蛋白结构

Adaptin_N

Adaptin_N: Adaptin N terminal region (24 - 574)

Alpha_adaptinC2

Alpha_adaptinC2: Adaptin C-terminal domain (670 - 780)

  • 0
  • 200
  • 400
  • 600
  • 785 a.a.
蛋白主名 其他名称

AP-1 complex subunit gamma-like 2

adaptor related protein complex 1 gamma 2 subunit

关联疾病

疾病名称 别名
Tracheoesophageal Fistula With Or Without Esophageal Atresia

Esophageal Atresia With Or Without Tracheoesophageal Fistula

Esophageal Atresia

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56

MRD56

Autosomal Dominant Mental Retardation 56

Autosomal Dominant Intellectual Developmental Disorder 56

Autosomal Dominant Intellectual Developmental Disorder-56

Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

Psoriasis 15

Psors15

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 AP1G2 VGNC VGNC:69959
Felis catus AP1G2 VGNC VGNC:81040
Canis familiaris AP1G2 VGNC VGNC:37953
Bos taurus AP1G2 VGNC VGNC:25978
Mus musculus AP1G2 MGD MGI:1328307
Rattus norvegicus AP1G2 RGD RGD:2324507