AP3M2 (adaptor related protein complex 3 subunit mu 2)

2014-11-01  

Identity

HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
AP47B,CLA20,P47B

Other Information

Locus ID:

NCBI: 10947
MIM: 610469
HGNC: 570
Ensembl: ENSG00000070718

Variants:

dbSNP: 10947
ClinVar: 10947
TCGA: ENSG00000070718
COSMIC: AP3M2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000070718ENST00000174653P53677
ENSG00000070718ENST00000174653A0A384NYL6
ENSG00000070718ENST00000396926P53677
ENSG00000070718ENST00000396926A0A384NYL6
ENSG00000070718ENST00000517499H0YBA0
ENSG00000070718ENST00000517865E5RGF3
ENSG00000070718ENST00000517922E7ER80
ENSG00000070718ENST00000517969A0A1D5RMS9
ENSG00000070718ENST00000518421P53677
ENSG00000070718ENST00000518421A0A384NYL6
ENSG00000070718ENST00000520689H0YBM0
ENSG00000070718ENST00000521280E5RJ52
ENSG00000070718ENST00000522288E5RI83
ENSG00000070718ENST00000522606H0YAY4
ENSG00000070718ENST00000530375P53677

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
194811222009Association analysis between schizophrenia and the AP-3 complex genes.8
194811222009Association analysis between schizophrenia and the AP-3 complex genes.8
172930722007Mutation screening of AP3M2 in Japanese epilepsy patients.3
172930722007Mutation screening of AP3M2 in Japanese epilepsy patients.3
172930722007Mutation screening of AP3M2 in Japanese epilepsy patients.3
172930722007Mutation screening of AP3M2 in Japanese epilepsy patients.3

Citation

Dessen P

AP3M2 (adaptor related protein complex 3 subunit mu 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60405/ap3m2-(adaptor-related-protein-complex-3-subunit-mu-2)