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Aliases for PTPN14 Gene

Aliases for PTPN14 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 14 2 3 5
  • Protein-Tyrosine Phosphatase Pez 3 4
  • EC 3.1.3.48 4 61
  • PEZ 3 4
  • Cytoskeletal-Associated Protein Tyrosine Phosphatase 3
  • Tyrosine-Protein Phosphatase Non-Receptor Type 14 3
  • EC 3.1.3 61
  • PTP36 3
  • PTPD2 4

External Ids for PTPN14 Gene

Previous GeneCards Identifiers for PTPN14 Gene

  • GC01M213183
  • GC01M210351
  • GC01M211133
  • GC01M211587
  • GC01M210919
  • GC01M212597
  • GC01M214530
  • GC01M185197
  • GC01M214523
  • GC01M214348

Summaries for PTPN14 Gene

Entrez Gene Summary for PTPN14 Gene

  • The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

GeneCards Summary for PTPN14 Gene

PTPN14 (Protein Tyrosine Phosphatase, Non-Receptor Type 14) is a Protein Coding gene. Diseases associated with PTPN14 include Choanal Atresia And Lymphedema and Lymphedema. Among its related pathways are Adhesion and Angiogenesis (CST). GO annotations related to this gene include phosphatase activity and transcription cofactor activity. An important paralog of this gene is PTPN21.

UniProtKB/Swiss-Prot for PTPN14 Gene

  • Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor.

Gene Wiki entry for PTPN14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN14 Gene

Genomics for PTPN14 Gene

Regulatory Elements for PTPN14 Gene

Enhancers for PTPN14 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
GH01G214450 1.4 Ensembl ENCODE dbSUPER 16.6 +98.5 98480 6.8 PKNOX1 ZNF133 SIN3A DMAP1 ZNF2 RAD21 GATA2 ZNF143 SMARCC2 FOS PTPN14 SMYD2 KCNK2 GC01M214483 ENSG00000228470
GH01G214569 1.1 ENCODE dbSUPER 12.1 -20.0 -20001 6.7 JUN ZSCAN4 RFX5 ZFHX2 ZNF316 GATA2 ZNF366 ZSCAN5C SCRT2 SMARCC2 PTPN14 CENPF
GH01G214437 2 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +112.4 112351 4.9 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CENPF PTPN14 ABHD17AP3 SMYD2 GC01M214483 ENSG00000228470
GH01G214524 1 ENCODE dbSUPER 12.1 +26.4 26426 2.6 INSM2 BMI1 ZNF384 ZNF121 IKZF2 SCRT1 MTA2 BHLHE40 IRF5 OVOL3 PTPN14 KRT18P12 LOC643454
GH01G214482 0.7 dbSUPER 16.8 +68.4 68358 3.6 CTCF RFX1 FOXA2 ZNF687 FOXA3 CEBPB CEBPG RAD21 FOXA1 IRF9 PTPN14 ABHD17AP3 LOC643454 KRT18P12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTPN14 on UCSC Golden Path with GeneCards custom track

Promoters for PTPN14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000019931 481 2801 SIN3A FEZF1 BRCA1 ZNF2 ZNF48 ETS1 GLIS2 FOS DEK ZNF263

Genomic Location for PTPN14 Gene

Chromosome:
1
Start:
214,336,942 bp from pter
End:
214,552,449 bp from pter
Size:
215,508 bases
Orientation:
Minus strand

Genomic View for PTPN14 Gene

Genes around PTPN14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPN14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN14 Gene

Proteins for PTPN14 Gene

  • Protein details for PTPN14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15678-PTN14_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 14
    Protein Accession:
    Q15678
    Secondary Accessions:
    • Q5VSI0

    Protein attributes for PTPN14 Gene

    Size:
    1187 amino acids
    Molecular mass:
    135261 Da
    Quaternary structure:
    • Interacts with FLT4; the interaction is enhanced by stimulation with VEGFC. Interacts (via PPxY motifs) with YAP1 (via WW domains); this interaction leads to the cytoplasmic sequestration of YAP1 and inhibits its transcriptional co-activator activity.

    Three dimensional structures from OCA and Proteopedia for PTPN14 Gene

neXtProt entry for PTPN14 Gene

Selected DME Specific Peptides for PTPN14 Gene

Q15678:
  • IAMVTAEEEGGR
  • YIATQGP
  • GQERTVWHLQYTDWP
  • SLQEVSEPLTA
  • QVIRLAG
  • VVHCSAG
  • TRYQYYLQ
  • TLSVESTGQE
  • VHCSAGVGRTG
  • GFLSYLEEIQSVRRHTNS
  • CYATTGLK
  • PTKENNTGYINASHIKV
  • LEAVAQRLELRE
  • PIVVHCS
  • LAGLAVQADFGD

Post-translational modifications for PTPN14 Gene

  • Ubiquitinated by the ECS (Elongin BC-CUL2/5-SOCS-box protein)/LRR1 E3 ligase complex and subsequently targeted to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PTPN14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PTPN14 Gene

Suggested Antigen Peptide Sequences for PTPN14 Gene

Graphical View of Domain Structure for InterPro Entry

Q15678

UniProtKB/Swiss-Prot:

PTN14_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
genes like me logo Genes that share domains with PTPN14: view

Function for PTPN14 Gene

Molecular function for PTPN14 Gene

GENATLAS Biochemistry:
protein tyrosine phosphatase,non receptor type 14
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor.
UniProtKB/Swiss-Prot Induction:
Up-regulated at protein level by cell density. However, at the mRNA level remains the same regardless of the status of cell density.

Enzyme Numbers (IUBMB) for PTPN14 Gene

Gene Ontology (GO) - Molecular Function for PTPN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription cofactor activity IMP 22525271
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IEA,IMP 22525271
GO:0005515 protein binding IPI 22525271
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PTPN14: view
genes like me logo Genes that share phenotypes with PTPN14: view

Human Phenotype Ontology for PTPN14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPN14 Gene

MGI Knock Outs for PTPN14:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTPN14

CRISPR Products

miRNA for PTPN14 Gene

miRTarBase miRNAs that target PTPN14

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PTPN14 Gene

Localization for PTPN14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN14 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Nucleus. Note=Translocation into the nucleus is associated with induction of cell proliferation. Partially colocalized with actin filaments at the plasma membrane.

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 PTPN14 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for PTPN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10934049
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 10934049
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with PTPN14: view

Pathways & Interactions for PTPN14 Gene

genes like me logo Genes that share pathways with PTPN14: view

Pathways by source for PTPN14 Gene

3 Cell Signaling Technology pathways for PTPN14 Gene
1 Qiagen pathway for PTPN14 Gene

SIGNOR curated interactions for PTPN14 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PTPN14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001946 lymphangiogenesis IMP 20826270
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006470 protein dephosphorylation TAS 7733990
GO:0008285 negative regulation of cell proliferation IMP 22948661
genes like me logo Genes that share ontologies with PTPN14: view

Drugs & Compounds for PTPN14 Gene

(2) Drugs for PTPN14 Gene - From: HMDB

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

(1) Additional Compounds for PTPN14 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PTPN14: view

Transcripts for PTPN14 Gene

Unigene Clusters for PTPN14 Gene

Protein tyrosine phosphatase, non-receptor type 14:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN14 Gene

No ASD Table

Relevant External Links for PTPN14 Gene

GeneLoc Exon Structure for
PTPN14
ECgene alternative splicing isoforms for
PTPN14

Expression for PTPN14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPN14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPN14 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for PTPN14 Gene

This gene is overexpressed in Breast (42.0) and Placenta (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PTPN14 Gene



Protein tissue co-expression partners for PTPN14 Gene

NURSA nuclear receptor signaling pathways regulating expression of PTPN14 Gene:

PTPN14

SOURCE GeneReport for Unigene cluster for PTPN14 Gene:

Hs.193557

mRNA Expression by UniProt/SwissProt for PTPN14 Gene:

Q15678-PTN14_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PTPN14 Gene

  • Heart(4.3)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPN14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • ear
  • head
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • heart
  • heart valve
genes like me logo Genes that share expression patterns with PTPN14: view

Primer Products

Orthologs for PTPN14 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPN14 34 35
  • 99.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PTPN14 34 35
  • 91.21 (n)
cow
(Bos Taurus)
Mammalia PTPN14 34 35
  • 89.95 (n)
oppossum
(Monodelphis domestica)
Mammalia PTPN14 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpn14 34 16 35
  • 85.94 (n)
chicken
(Gallus gallus)
Aves PTPN14 34 35
  • 78.2 (n)
lizard
(Anolis carolinensis)
Reptilia PTPN14 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpn14 34
  • 69.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pez 36 35
  • 36 (a)
Species where no ortholog for PTPN14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PTPN14 Gene

ENSEMBL:
Gene Tree for PTPN14 (if available)
TreeFam:
Gene Tree for PTPN14 (if available)

Paralogs for PTPN14 Gene

Paralogs for PTPN14 Gene

genes like me logo Genes that share paralogs with PTPN14: view

Variants for PTPN14 Gene

Sequence variations from dbSNP and Humsavar for PTPN14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs112523432 A breast cancer sample 214,384,776(+) TCCCA(G/T)GAAAA reference, missense
VAR_035849 A breast cancer sample
rs1000007993 -- 214,398,005(+) TCCTG(A/G)GTAAG intron-variant
rs1000022112 -- 214,463,083(+) GAACC(C/T)AAGAC intron-variant
rs1000026612 -- 214,380,925(+) CTCTA(A/G)GGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PTPN14 Gene

Variant ID Type Subtype PubMed ID
dgv145e212 CNV loss 25503493
dgv146e212 CNV loss 25503493
esv2669067 CNV deletion 23128226
esv275028 CNV loss 21479260
esv3578414 CNV loss 25503493
esv3578421 CNV loss 25503493
esv3588787 CNV loss 21293372
esv3588788 CNV loss 21293372
nsv468094 CNV loss 19166990
nsv516687 CNV loss 19592680
nsv549180 CNV loss 21841781
nsv945284 CNV duplication 23825009
nsv945285 CNV duplication 23825009

Variation tolerance for PTPN14 Gene

Residual Variation Intolerance Score: 8.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTPN14 Gene

Human Gene Mutation Database (HGMD)
PTPN14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPN14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN14 Gene

Disorders for PTPN14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PTPN14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
choanal atresia and lymphedema
  • lymphedema-posterior choanal atresia syndrome
lymphedema
  • lymphatic edema
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PTN14_HUMAN
  • Choanal atresia and lymphedema (CHATLY) [MIM:613611]: A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. {ECO:0000269 PubMed:20826270}. Note=The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family.
  • Note=Influence clinical severity of hereditary haemorragic telagiectasia (HHT). {ECO:0000269 PubMed:22233626}.

Relevant External Links for PTPN14

Genetic Association Database (GAD)
PTPN14
Human Genome Epidemiology (HuGE) Navigator
PTPN14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPN14
genes like me logo Genes that share disorders with PTPN14: view

No data available for Genatlas for PTPN14 Gene

Publications for PTPN14 Gene

  1. The protein tyrosine phosphatase Pez is a major phosphatase of adherens junctions and dephosphorylates beta-catenin. (PMID: 12808048) Wadham C. … Khew-Goodall Y. (Mol. Biol. Cell 2003) 3 4 22 64
  2. Pez: a novel human cDNA encoding protein tyrosine phosphatase- and ezrin-like domains. (PMID: 7733990) Smith A.L. … Crompton M.R. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 64
  3. PTPN14 interacts with and negatively regulates the oncogenic function of YAP. (PMID: 22525271) Liu X. … Zhang J. (Oncogene 2013) 3 4 64
  4. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. (PMID: 22233626) Benzinou M. … Akhurst R.J. (Nat. Commun. 2012) 3 4 64
  5. PTPN14 is required for the density-dependent control of YAP1. (PMID: 22948661) Wang W. … Chen J. (Genes Dev. 2012) 3 4 64

Products for PTPN14 Gene

Sources for PTPN14 Gene

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