Entrez Gene ID | 8499 |
---|---|
Official Gene Symbol | PPFIA2 (GeneCards) |
Full name | PTPRF interacting protein alpha 2 |
Location | 12q21.31 |
Other ids | Vega : OTTHUMG00000170181 MIM : 603143 HGNC : HGNC:9246 Ensembl : ENSG00000139220 |
Other names | None |
Summary | The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
Found 6 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
16243 | 8499 | PPFIA2 | 12 | 81767902 | 81767902 | Asymptomatic | HiSeq X Ten |
16257 | 8499 | PPFIA2 | 12 | 81672921 | 81672921 | Asymptomatic | HiSeq X Ten |
16539 | 8499 | PPFIA2 | 12 | 82028368 | 82028368 | Asymptomatic | HiSeq X Ten |
16650 | 8499 | PPFIA2 | 12 | 82183938 | 82183938 | Asymptomatic | HiSeq X Ten |
16722 | 8499 | PPFIA2 | 12 | 82286780 | 82286780 | Asymptomatic | HiSeq X Ten |
29305 | 8499 | PPFIA2 | 12 | 81769536 | 81769536 | Autism Spectrum Disorders | HiSeq X Ten PASM |