AP3M2 - adaptor related protein complex 3 subunit mu 2 Gene

Also Known as P47B; AP47B; CLA20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10947

About AP3M2

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:42,153,063-42,171,183 (from NCBI)

This gene has 17 transcripts (splice variants), 206 orthologues and 7 paralogues. Broad expression in brain (RPKM 10.7), testis (RPKM 8.6) and 24 other tissues.

Summary

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]

AP3M2 Products (2)

mRNA Protein Name
NM_001134296.2 NP_001127768.1 AP-3 complex subunit mu-2
NM_006803.4 NP_006794.1 AP-3 complex subunit mu-2
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AP3M2 Protein Structure

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 128)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (165 - 418)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 418 a.a.
Protein Preferred Names Protein Names

AP-3 complex subunit mu-2

  • HA1 47 kDa subunit homolog 2

Related Diseases

Diseases Alias
Farber Lipogranulomatosis
  • Farber Disease

  • Acid Ceramidase Deficiency

  • Ceramidase Deficiency

  • Ac Deficiency

  • N-Laurylsphingosine Deacylase Deficiency

  • Farber'S Disease

  • FRBRL

  • Farber'S Lipogranulomatosis

  • Acylsphingosine Deacylase Deficiency

  • Farber-Uzman Syndrome

  • Acy

Generalized Epilepsy With Febrile Seizures Plus
  • Gefs+

  • Genetic Epilepsy With Febrile Seizures Plus

  • Generalized Epilepsy With Febrile Seizures-Plus

  • Genetic Epilepsy With Febrile Seizures-Plus

  • Epilepsy, Generalized, With Febrile Seizures Plus

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
Macaca mulatta AP3M2 VGNC VGNC:69971
Felis catus AP3M2 VGNC VGNC:67730
Rattus norvegicus AP3M2 RGD RGD:70969
Canis familiaris AP3M2 VGNC VGNC:51786
Bos taurus AP3M2 VGNC VGNC:25990
Mus musculus AP3M2 MGD MGI:1929214