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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	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

Adap_comp_sub

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00793	AP3M2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	AP3M2	NCBI