1. Gene
  2. AP3S2 - adaptor related protein complex 3 subunit sigma 2 Gene

AP3S2 - adaptor related protein complex 3 subunit sigma 2 Gene

中文名称:适配器相关蛋白复合物 3 亚基西格玛 2

种属: Homo sapiens

同用名: AP3S3; sigma3b

基因 ID: 10239 | 基因类型: protein coding

关于 AP3S2

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:89,830,599-89,893,994 (from NCBI)

This gene has 16 transcripts (splice variants), 178 orthologues and 6 paralogues. Ubiquitous expression in kidney (RPKM 10.1), thyroid (RPKM 9.4) and 25 other tissues.

功能概要

预测参与顺行突触小泡运输和小泡介导的运输。位于细胞内膜界的细胞器中。 AP-3 适配器复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in anterograde synaptic vesicle transport and vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of AP-3 adaptor complex. [provided by Alliance of Genome Resources, Apr 2022]

AP3S2 基因产物(1)

mRNA Protein Name
NM_005829.5 NP_005820.1 AP-3 complex subunit sigma-2

AP3S2 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 147)

  • 0
  • 100
  • 193 a.a.
蛋白主名 其他名称

AP-3 complex subunit sigma-2

AP-3 complex subunit sigma-3B

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

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
Rattus norvegicus AP3S2 RGD RGD:1586888
Bos taurus AP3S2 VGNC VGNC:53932
Felis catus AP3S2 VGNC VGNC:81041
Canis familiaris AP3S2 VGNC VGNC:50432
Mus musculus AP3S2 MGD MGI:1337060