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.4
172930722007Mutation screening of AP3M2 in Japanese epilepsy patients.2
172930722007Mutation screening of AP3M2 in Japanese epilepsy patients.2

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