Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5782
Gene name Gene Name - the full gene name approved by the HGNC.
Protein tyrosine phosphatase non-receptor type 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTPN12
Synonyms (NCBI Gene) Gene synonyms aliases
PTP-PEST, PTPG1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121434623 A>G Pathogenic Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000198 hsa-miR-200b-3p Northern blot, qRT-PCR, Western blot 16762633
MIRT002567 hsa-miR-124-3p Microarray 15685193
MIRT005893 hsa-miR-194-5p Luciferase reporter assay, qRT-PCR, Western blot 20979124
MIRT019770 hsa-miR-375 Microarray 20215506
MIRT002567 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0004721 Function Phosphoprotein phosphatase activity IDA 27134172
GO:0004725 Function Protein tyrosine phosphatase activity EXP 21376233
GO:0004726 Function Non-membrane spanning protein tyrosine phosphatase activity IBA 21873635
GO:0005515 Function Protein binding IPI 9285683, 11971877, 12614164, 19167335, 19380743, 20029029, 21376233, 24189400, 24412244, 24658140, 28065597, 31980649, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600079 9645 ENSG00000127947
Protein
UniProt ID Q05209
Protein name Tyrosine-protein phosphatase non-receptor type 12 (EC 3.1.3.48) (PTP-PEST) (Protein-tyrosine phosphatase G1) (PTPG1)
Protein function Dephosphorylates a range of proteins, and thereby regulates cellular signaling cascades (PubMed:18559503). Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signaling via ERBB2 and PTK2B/PYK2 (PubMed
PDB 5HDE , 5J8R , 5O2P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00102 Y_phosphatase 58 292 Protein-tyrosine phosphatase Domain
Sequence
MEQVEILRKFIQRVQAMKSPDHNGEDNFARDFMRLRRLSTKYRTEKIYPTATGEKEENVK
KNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVIDFWRM
IWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLL
EFQNESRRLYQFHYVNWPDHDVPSSFDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGA
ICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQ
LFEKQLQL
YEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPH
PVPPILTPSPPSAFPTVTTVWQDNDRYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNE
STIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKISKPQE
LSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHG
PENAIPIPDLSEGNSSDINYQTRKTVSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNP
LHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNIAGTTH
SGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSE
NEKCDHPAGGIHYEMCIECPPTFSDKREQISENPTEATDIGFGNRCGKPKGPRDPPSEWT
Sequence length 780
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SHC1 events in ERBB2 signaling
EGFR downregulation
Signaling by PDGF
Downregulation of ERBB2 signaling
Interleukin-37 signaling
Constitutive Signaling by Overexpressed ERBB2
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 7509295
Unknown
Disease term Disease name Evidence References Source
Hypothyroidism Hypothyroidism GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 23044628, 23534739, 27608899
Carcinogenesis Associate 29278368, 7509295
Carcinoma Hepatocellular Associate 24475046, 27075395, 29742497
Carcinoma Hepatocellular Inhibit 32812952
Carcinoma Non Small Cell Lung Associate 25868976
Carcinoma Renal Cell Associate 26537073, 30297534
Carcinoma Renal Cell Inhibit 33292053
Carcinoma Squamous Cell Associate 25868976
Colonic Neoplasms Associate 24284071
Colorectal Neoplasms Associate 26901136, 7509295