PPFIA2 (PTPRF interacting protein alpha 2)

2003-10-01  

Identity

HGNC
LOCATION
12q21.31
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 8499
MIM: 603143
HGNC: 9246
Ensembl: ENSG00000139220

Variants:

dbSNP: 8499
ClinVar: 8499
TCGA: ENSG00000139220
COSMIC: PPFIA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139220ENST00000333447O75334
ENSG00000139220ENST00000407050O75334
ENSG00000139220ENST00000443686O75334
ENSG00000139220ENST00000541017O75334
ENSG00000139220ENST00000541570O75334
ENSG00000139220ENST00000547623F8VU88
ENSG00000139220ENST00000548586O75334
ENSG00000139220ENST00000548670F8W1Y8
ENSG00000139220ENST00000548790H0YH95
ENSG00000139220ENST00000549325O75334
ENSG00000139220ENST00000549396O75334
ENSG00000139220ENST00000550018H0YHJ4
ENSG00000139220ENST00000550359H0YHK3
ENSG00000139220ENST00000550584G3V200
ENSG00000139220ENST00000551147H0YIJ4
ENSG00000139220ENST00000551442F8VWR9
ENSG00000139220ENST00000551461F8VWG6
ENSG00000139220ENST00000552948O75334
ENSG00000139220ENST00000553058F8VYK7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Norepinephrine Neurotransmitter Release CycleREACTOMER-HSA-181430
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218557982011Liprin-mediated large signaling complex organization revealed by the liprin-α/CASK and liprin-α/liprin-β complex structures.25
234228192013Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.9
121195542002Liprin-alpha2 gene, protein tyrosine phosphatase LAR interacting protein related gene, is downregulated by androgens in the human prostate cancer cell line LNCaP.2
267402342016SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.1

Citation

Dessen P

PPFIA2 (PTPRF interacting protein alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/41797/ppfia2