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Aliases for PTPN12 Gene

Aliases for PTPN12 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 12 2 3 5
  • Protein-Tyrosine Phosphatase G1 3 4
  • PTP-PEST 3 4
  • PTPG1 3 4
  • Tyrosine-Protein Phosphatase Non-Receptor Type 12 3
  • EC 3.1.3.48 4

External Ids for PTPN12 Gene

Previous GeneCards Identifiers for PTPN12 Gene

  • GC07P075702
  • GC07P076764
  • GC07P076778
  • GC07P076811
  • GC07P077004
  • GC07P077166
  • GC07P071768

Summaries for PTPN12 Gene

Entrez Gene Summary for PTPN12 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. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

GeneCards Summary for PTPN12 Gene

PTPN12 (Protein Tyrosine Phosphatase, Non-Receptor Type 12) is a Protein Coding gene. Diseases associated with PTPN12 include Colorectal Cancer. Among its related pathways are Adhesion and Signaling by GPCR. GO annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPN22.

UniProtKB/Swiss-Prot for PTPN12 Gene

  • 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:17329398, PubMed:27134172). Selectively dephosphorylates ERBB2 phosphorylated at Tyr-1112, Tyr-1196, and/or Tyr-1248 (PubMed:27134172).

Gene Wiki entry for PTPN12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN12 Gene

Genomics for PTPN12 Gene

Regulatory Elements for PTPN12 Gene

Enhancers for PTPN12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G077569 1.5 FANTOM5 Ensembl ENCODE dbSUPER 31.2 +33.3 33258 2.1 CTCF HDGF PKNOX1 RAD21 ZNF316 HMBOX1 NFE2 EMSY ZBTB17 PTPN12 GSAP APTR FGL2 LOC105375363
GH07G077408 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -127.0 -127023 4.1 ELF3 TBP FOXA2 MLX ARID4B DMAP1 ZNF48 RAD21 RARA YY1 GSAP PTPN12 LOC101927243 PIR39731
GH07G077412 1.6 FANTOM5 ENCODE dbSUPER 16.1 -122.3 -122280 5.1 ARID4B SIN3A ZNF48 GLIS2 ZNF143 ZNF207 SP5 JUNB REST TBX21 GSAP PTPN12 PMS2P9 LOC101927243 PIR39731
GH07G077535 1.4 ENCODE dbSUPER 17.1 +1.2 1227 5.4 HNRNPUL1 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A APTR PTPN12 PMS2P9 DTX2P1 FAM185BP LOC105375363
GH07G077425 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.3 -109.8 -109827 4.7 SOX13 JUN CHD4 CEBPG CHD7 ZSCAN9 RAD21 GATA2 EED NR2F6 GSAP PTPN12 GC07M077424 GCNT1P5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPN12 on UCSC Golden Path with GeneCards custom track

Promoters for PTPN12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000214062 525 3601 HNRNPUL1 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1

Genomic Location for PTPN12 Gene

Chromosome:
7
Start:
77,537,275 bp from pter
End:
77,640,071 bp from pter
Size:
102,797 bases
Orientation:
Plus strand

Genomic View for PTPN12 Gene

Genes around PTPN12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN12 Gene

Proteins for PTPN12 Gene

  • Protein details for PTPN12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05209-PTN12_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 12
    Protein Accession:
    Q05209
    Secondary Accessions:
    • A4D1C5
    • B4DKY2
    • E9PBR5
    • E9PEH9
    • Q16130
    • Q59FD6
    • Q75MN8
    • Q86XU4

    Protein attributes for PTPN12 Gene

    Size:
    780 amino acids
    Molecular mass:
    88106 Da
    Quaternary structure:
    • Interacts with TGFB1I1 (By similarity). Interacts with PSTPIP1 (PubMed:9857189). Interacts with PTK2B/PYK2 (PubMed:17329398). Interacts with LPXN (By similarity). Interacts with SORBS2; this interaction greatly enhances WASF1 dephosphorylation and might mediate partial translocation to focal adhesion sites (PubMed:18559503).
    SequenceCaution:
    • Sequence=BAD92761.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTPN12 Gene

    Alternative splice isoforms for PTPN12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPN12 Gene

Post-translational modifications for PTPN12 Gene

  • Phosphorylated by STK24/MST3 and this results in inhibition of its activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTPN12 (PTP-PEST)
  • Abcam antibodies for PTPN12
  • Cloud-Clone Corp. Antibodies for PTPN12

No data available for DME Specific Peptides for PTPN12 Gene

Domains & Families for PTPN12 Gene

Gene Families for PTPN12 Gene

Graphical View of Domain Structure for InterPro Entry

Q05209

UniProtKB/Swiss-Prot:

PTN12_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
genes like me logo Genes that share domains with PTPN12: view

Function for PTPN12 Gene

Molecular function for PTPN12 Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase non receptor type,88kDa,with PEST sequences (gastric 1)
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot 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:17329398, PubMed:27134172). Selectively dephosphorylates ERBB2 phosphorylated at Tyr-1112, Tyr-1196, and/or Tyr-1248 (PubMed:27134172).

Enzyme Numbers (IUBMB) for PTPN12 Gene

Gene Ontology (GO) - Molecular Function for PTPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IDA,IEA 27134172
GO:0004725 protein tyrosine phosphatase activity EXP,IEA 21376233
GO:0004726 non-membrane spanning protein tyrosine phosphatase activity TAS 8454633
GO:0005515 protein binding IPI 9285683
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTPN12: view
genes like me logo Genes that share phenotypes with PTPN12: view

Animal Models for PTPN12 Gene

MGI Knock Outs for PTPN12:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPN12

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PTPN12 Gene

Localization for PTPN12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN12 Gene

Cytoplasm. Cell junction, focal adhesion. Cell projection, podosome. Note=Partial translocation to focal adhesion sites may be mediated by interaction with SORBS2. {ECO:0000269 PubMed:18559503}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPN12 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
plasma membrane 3
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PTPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005737 cytoplasm TAS 1472029
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PTPN12: view

Pathways & Interactions for PTPN12 Gene

genes like me logo Genes that share pathways with PTPN12: view

Pathways by source for PTPN12 Gene

3 Cell Signaling Technology pathways for PTPN12 Gene
1 BioSystems pathway for PTPN12 Gene

SIGNOR curated interactions for PTPN12 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PTPN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA,IEA 27134172
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IDA,IEA 27134172
GO:0038128 ERBB2 signaling pathway TAS --
GO:0042058 regulation of epidermal growth factor receptor signaling pathway IMP 27134172
genes like me logo Genes that share ontologies with PTPN12: view

Drugs & Compounds for PTPN12 Gene

(7) Drugs for PTPN12 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
sodium orthovanadate Pharma PTP inhibitor 0

(3) Additional Compounds for PTPN12 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(1) ApexBio Compounds for PTPN12 Gene

Compound Action Cas Number
Sodium Orthovanadate PTP inhibitor 13721-39-6
genes like me logo Genes that share compounds with PTPN12: view

Drug Products

Transcripts for PTPN12 Gene

Unigene Clusters for PTPN12 Gene

Protein tyrosine phosphatase, non-receptor type 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for PTPN12 Gene

GeneLoc Exon Structure for
PTPN12
ECgene alternative splicing isoforms for
PTPN12

Expression for PTPN12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPN12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTPN12 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.2), Lavage (13.4), Platelet (8.5), and NK cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PTPN12 Gene



Protein tissue co-expression partners for PTPN12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTPN12 Gene:

PTPN12

SOURCE GeneReport for Unigene cluster for PTPN12 Gene:

Hs.61812

Evidence on tissue expression from TISSUES for PTPN12 Gene

  • Nervous system(4.5)
  • Blood(4.4)
  • Intestine(4.3)
  • Liver(4.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • reproductive
  • urinary
Organs:
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • uterus
genes like me logo Genes that share expression patterns with PTPN12: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PTPN12 Gene

Orthologs for PTPN12 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPN12 34 35
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia PTPN12 34 35
  • 92.55 (n)
cow
(Bos Taurus)
Mammalia PTPN12 34 35
  • 91.9 (n)
mouse
(Mus musculus)
Mammalia Ptpn12 34 16 35
  • 85.06 (n)
rat
(Rattus norvegicus)
Mammalia Ptpn12 34
  • 84.66 (n)
oppossum
(Monodelphis domestica)
Mammalia PTPN12 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPN12 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTPN12 34 35
  • 75.77 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 12 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpn12 34
  • 68.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5060 34
zebrafish
(Danio rerio)
Actinopterygii ptpn12 34
  • 64.95 (n)
zgc65856 34
worm
(Caenorhabditis elegans)
Secernentea F47B3.1 36
  • 35 (a)
F47B3.6 36
  • 35 (a)
M04G7.2 36
  • 35 (a)
K07F5.8 36
  • 34 (a)
ZK616.7 36
  • 34 (a)
F47B3.7 36
  • 33 (a)
Y41D4A.5 36 35
  • 33 (a)
F36H1.3 36
  • 32 (a)
C17H12.3 36
  • 31 (a)
C55B7.3 36
  • 30 (a)
F10G8.1 36
  • 29 (a)
ZK484.7 36
  • 29 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1482 34
Species where no ortholog for PTPN12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTPN12 Gene

ENSEMBL:
Gene Tree for PTPN12 (if available)
TreeFam:
Gene Tree for PTPN12 (if available)

Paralogs for PTPN12 Gene

Variants for PTPN12 Gene

Sequence variations from dbSNP and Humsavar for PTPN12 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs121434623 Pathogenic, Colon cancer 77,571,160(+) TAAAA(A/G)GAACA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000016521 -- 77,606,601(+) ATAGG(C/T)CTTCC intron-variant
rs1000022577 -- 77,626,626(+) ATATG(C/T)TACTC intron-variant
rs1000023033 -- 77,566,398(+) GTTAT(C/T)TTTGG intron-variant
rs1000085571 -- 77,606,199(+) TCCAC(C/T)GGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTPN12 Gene

Variant ID Type Subtype PubMed ID
esv1494265 CNV insertion 17803354
esv2734701 CNV deletion 23290073
nsv1022292 CNV gain 25217958
nsv1075975 CNV deletion 25765185
nsv1117462 CNV tandem duplication 24896259
nsv1124233 CNV deletion 24896259
nsv1128345 CNV deletion 24896259
nsv1132071 CNV deletion 24896259
nsv1145150 CNV deletion 24896259
nsv831039 CNV gain 17160897

Variation tolerance for PTPN12 Gene

Residual Variation Intolerance Score: 9.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.75; 83.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPN12 Gene

Human Gene Mutation Database (HGMD)
PTPN12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPN12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN12 Gene

Disorders for PTPN12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PTPN12 Gene - From: OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • colorectal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PTPN12

Genetic Association Database (GAD)
PTPN12
Human Genome Epidemiology (HuGE) Navigator
PTPN12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPN12
genes like me logo Genes that share disorders with PTPN12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PTPN12 Gene

Publications for PTPN12 Gene

  1. Chromosomal localization of the protein tyrosine phosphatase G1 gene and characterization of the aberrant transcripts in human colon cancer cells. (PMID: 7509295) Takekawa M. … Yachi A. (FEBS Lett. 1994) 2 3 4 22 64
  2. Interaction of Pyk2 and PTP-PEST with leupaxin in prostate cancer cells. (PMID: 17329398) Sahu S.N. … Gupta A. (Am. J. Physiol. 2007) 3 4 22 64
  3. Cloning and expression of PTP-PEST. A novel, human, nontransmembrane protein tyrosine phosphatase. (PMID: 8349645) Yang Q. … Tonks N.K. (J. Biol. Chem. 1993) 3 4 22 64
  4. Cloning and expression of PTP-PEST. A novel, human, nontransmembrane protein tyrosine phosphatase. (PMID: 8454633) Yang Q. … Tonks N.K. (J. Biol. Chem. 1993) 3 4 22 64
  5. Crystal structure and substrate specificity of PTPN12. (PMID: 27134172) Li H. … Yu X. (Cell Rep. 2016) 3 4 64

Products for PTPN12 Gene

Sources for PTPN12 Gene

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