Human Gene PTPN14 (ENST00000366956.10_7) from GENCODE V47lift37
  Description: protein tyrosine phosphatase non-receptor type 14 (from RefSeq NM_005401.5)
Gencode Transcript: ENST00000366956.10_7
Gencode Gene: ENSG00000152104.12_10
Transcript (Including UTRs)
   Position: hg19 chr1:214,522,043-214,724,945 Size: 202,903 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr1:214,531,265-214,638,146 Size: 106,882 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:214,522,043-214,724,945)mRNA (may differ from genome)Protein (1187 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTN14_HUMAN
DESCRIPTION: RecName: Full=Tyrosine-protein phosphatase non-receptor type 14; EC=3.1.3.48; AltName: Full=Protein-tyrosine phosphatase pez;
FUNCTION: Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis.
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
SUBUNIT: Interacts with FLT4; the interaction is enhanced by stimulation with VEGFC.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
TISSUE SPECIFICITY: Expressed in a variety of human tissues including kidney, skeletal muscle, lung and placenta.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in PTPN14 are a cause of 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. Note=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.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
SIMILARITY: Contains 1 FERM domain.
SIMILARITY: Contains 1 tyrosine-protein phosphatase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTPN14
Diseases sorted by gene-association score: choanal atresia and lymphedema* (1370), lung mucoepidermoid carcinoma (16), lymphedema (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.35 RPKM in Cells - Cultured fibroblasts
Total median expression: 140.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -239.10574-0.417 Picture PostScript Text
3' UTR -2936.309222-0.318 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019749 - Band_41_domain
IPR019750 - Band_41_fam
IPR014352 - FERM/acyl-CoA-bd_prot_3-hlx
IPR019748 - FERM_central
IPR019747 - FERM_CS
IPR000299 - FERM_domain
IPR018979 - FERM_N
IPR018980 - FERM_PH-like_C
IPR011993 - PH_like_dom
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS
IPR014392 - Tyr_Pase_non-rcpt_typ-14/21
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF00102 - Protein-tyrosine phosphatase
PF00373 - FERM central domain
PF09379 - FERM N-terminal domain
PF09380 - FERM C-terminal PH-like domain

SCOP Domains:
47031 - Second domain of FERM
50729 - PH domain-like
52799 - (Phosphotyrosine protein) phosphatases II
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2BZL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15678
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003712 transcription cofactor activity
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0030971 receptor tyrosine kinase binding

Biological Process:
GO:0001946 lymphangiogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006470 protein dephosphorylation
GO:0008285 negative regulation of cell proliferation
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0046825 regulation of protein export from nucleus
GO:0071345 cellular response to cytokine stimulus

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK291641 - Homo sapiens cDNA FLJ76875 complete cds, highly similar to Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.
X82676 - Homo sapiens mRNA for tyrosine phosphatase.
BC101754 - Homo sapiens protein tyrosine phosphatase, non-receptor type 14, mRNA (cDNA clone MGC:126803 IMAGE:8069260), complete cds.
BC104803 - Homo sapiens protein tyrosine phosphatase, non-receptor type 14, mRNA (cDNA clone MGC:132463 IMAGE:8143806), complete cds.
KJ897421 - Synthetic construct Homo sapiens clone ccsbBroadEn_06815 PTPN14 gene, encodes complete protein.
HQ116786 - Homo sapiens isolate 2A truncated protein tyrosine phosphatase non-receptor type 14 (PTPN14) mRNA, complete cds.
AB385242 - Synthetic construct DNA, clone: pF1KB9487, Homo sapiens PTPN14 gene for protein tyrosine phosphatase, non-receptor type 14, complete cds, without stop codon, in Flexi system.
AK298120 - Homo sapiens cDNA FLJ53819 partial cds, highly similar to Tyrosine-protein phosphatase non-receptor type 14 (EC 3.1.3.48).
BC017300 - Homo sapiens protein tyrosine phosphatase, non-receptor type 14, mRNA (cDNA clone IMAGE:5018155), partial cds.
AK056963 - Homo sapiens cDNA FLJ32401 fis, clone SKMUS2000339.
AF086517 - Homo sapiens full length insert cDNA clone ZE03F06.
JD255682 - Sequence 236706 from Patent EP1572962.
JD472506 - Sequence 453530 from Patent EP1572962.
JD208793 - Sequence 189817 from Patent EP1572962.
JD275746 - Sequence 256770 from Patent EP1572962.
JD159000 - Sequence 140024 from Patent EP1572962.
JD208794 - Sequence 189818 from Patent EP1572962.
JD275747 - Sequence 256771 from Patent EP1572962.
JD159001 - Sequence 140025 from Patent EP1572962.
JD105686 - Sequence 86710 from Patent EP1572962.
JD533752 - Sequence 514776 from Patent EP1572962.
JD421968 - Sequence 402992 from Patent EP1572962.
JD421967 - Sequence 402991 from Patent EP1572962.
DQ600684 - Homo sapiens piRNA piR-38750, complete sequence.
DQ595077 - Homo sapiens piRNA piR-61189, complete sequence.
JD487511 - Sequence 468535 from Patent EP1572962.
JD047770 - Sequence 28794 from Patent EP1572962.
JD487512 - Sequence 468536 from Patent EP1572962.
JD545842 - Sequence 526866 from Patent EP1572962.
JD079665 - Sequence 60689 from Patent EP1572962.
JD171565 - Sequence 152589 from Patent EP1572962.
JD238468 - Sequence 219492 from Patent EP1572962.
JD545843 - Sequence 526867 from Patent EP1572962.
JD243297 - Sequence 224321 from Patent EP1572962.
JD079666 - Sequence 60690 from Patent EP1572962.
JD243298 - Sequence 224322 from Patent EP1572962.
JD043046 - Sequence 24070 from Patent EP1572962.
JD464351 - Sequence 445375 from Patent EP1572962.
JD471337 - Sequence 452361 from Patent EP1572962.
JD158108 - Sequence 139132 from Patent EP1572962.
LF205512 - JP 2014500723-A/13015: Polycomb-Associated Non-Coding RNAs.
LF321401 - JP 2014500723-A/128904: Polycomb-Associated Non-Coding RNAs.
JD349084 - Sequence 330108 from Patent EP1572962.
JD037465 - Sequence 18489 from Patent EP1572962.
JD540770 - Sequence 521794 from Patent EP1572962.
MA556978 - JP 2018138019-A/128904: Polycomb-Associated Non-Coding RNAs.
MA441089 - JP 2018138019-A/13015: Polycomb-Associated Non-Coding RNAs.
BX538306 - Homo sapiens mRNA; cDNA DKFZp686D06123 (from clone DKFZp686D06123).
AK090596 - Homo sapiens cDNA FLJ33277 fis, clone ASTRO2008409.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15678 (Reactome details) participates in the following event(s):

R-HSA-9008059 Interleukin-37 signaling
R-HSA-446652 Interleukin-1 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000366956.1, ENST00000366956.2, ENST00000366956.3, ENST00000366956.4, ENST00000366956.5, ENST00000366956.6, ENST00000366956.7, ENST00000366956.8, ENST00000366956.9, NM_005401, PEZ, PTN14_HUMAN, PTPD2, Q15678, Q5VSI0, uc318fmq.1, uc318fmq.2
UCSC ID: ENST00000366956.10_7
RefSeq Accession: NM_005401.5
Protein: Q15678 (aka PTN14_HUMAN or PTNE_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.