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

AP3S2 - adaptor related protein complex 3 subunit sigma 2 Gene

Homo sapiens

Also known as AP3S3; sigma3b

Gene ID: 10239 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

AP3S2 Protein Structure

Clat_adaptor_s

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

  • 0
  • 100
  • 193 a.a.
Protein Preferred Names Protein Names

AP-3 complex subunit sigma-2

AP-3 complex subunit sigma-3B

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

Diseases Alias
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

Orthologs Information

Species Symbol Source 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