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PTPN14 protein tyrosine phosphatase non-receptor type 14 [ Homo sapiens (human) ]

Gene ID: 5784, updated on 7-Apr-2024

Summary

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Official Symbol
PTPN14provided by HGNC
Official Full Name
protein tyrosine phosphatase non-receptor type 14provided by HGNC
Primary source
HGNC:HGNC:9647
See related
Ensembl:ENSG00000152104 MIM:603155; AllianceGenome:HGNC:9647
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEZ; PTP36; PTPD2; CATLPH
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 9.0), kidney (RPKM 5.5) and 23 other tissues See more
Orthologs
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Genomic context

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See PTPN14 in Genome Data Viewer
Location:
1q32.3-q41
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (214348700..214551602, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (213588194..213791283, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (214522043..214724945, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:214453457-214454022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1814 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:214475531-214475666 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214490349-214490852 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214489845-214490348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214490853-214491356 Neighboring gene SET and MYND domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 1006 Neighboring gene NANOG hESC enhancer GRCh37_chr1:214515875-214516376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214543020-214543520 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:214553675-214554176 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:214554177-214554676 Neighboring gene uncharacterized LOC124904508 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:214592894-214593456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2532 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214612491-214613462 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:214619781-214620467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:214623549-214624048 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:214656924-214657632 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214678347-214679324 Neighboring gene Sharpr-MPRA regulatory region 6950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:214698971-214699854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214723608-214724429 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214724430-214725250 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:214725251-214726071 Neighboring gene keratin 18 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1815 Neighboring gene ABHD17A pseudogene 3 Neighboring gene UBE2V1 pseudogene 13 Neighboring gene centromere protein F

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. circPTPN14 promotes renal fibrosis through its interaction with FUBP1 to enhance MYC transcription. Zhou JK, et al. Cell Mol Life Sci, 2023 Apr 4. PMID 37014433
  2. PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway. Li H, et al. Cell Death Dis, 2023 Mar 10. PMID 36898991, Free PMC Article
  3. Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis. Russell-Goldman E, et al. Am J Dermatopathol, 2022 Aug 1. PMID 35830698
  4. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk. Olafsdottir T, et al. Cancer Res, 2021 Apr 15. PMID 33602785
  5. Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing. Cogulu O, et al. Clin Dysmorphol, 2021 Apr 1. PMID 33491997

See all (105) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. circPTPN14 promotes renal fibrosis through its interaction with FUBP1 to enhance MYC transcription.
    Title: circPTPN14 promotes renal fibrosis through its interaction with FUBP1 to enhance MYC transcription.
  2. PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway.
    Title: PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway.
  3. Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
    Title: Recurrent PTPN14 Mutations in Trichilemmoma: Evidence for Distinct Pathways of Molecular Pathogenesis.
  4. Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.
    Title: Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.
  5. PTPN14, a target gene of miR-4295, restricts the growth and invasion of osteosarcoma cells through inactivation of YAP1 signalling.
    Title: PTPN14, a target gene of miR-4295, restricts the growth and invasion of osteosarcoma cells through inactivation of YAP1 signalling.
  6. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
    Title: Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
  7. PTPN14 acts as a candidate tumor suppressor in prostate cancer and inhibits cell proliferation and invasion through modulating LATS1/YAP signaling.
    Title: PTPN14 acts as a candidate tumor suppressor in prostate cancer and inhibits cell proliferation and invasion through modulating LATS1/YAP signaling.
  8. PTPN14 deficiency alleviates podocyte injury through suppressing inflammation and fibrosis by targeting TRIP6 in diabetic nephropathy.
    Title: PTPN14 deficiency alleviates podocyte injury through suppressing inflammation and fibrosis by targeting TRIP6 in diabetic nephropathy.
  9. microRNA-217 suppressed epithelial-to-mesenchymal transition through targeting PTPN14 in gastric cancer.
    Title: microRNA-217 suppressed epithelial-to-mesenchymal transition through targeting PTPN14 in gastric cancer.
  10. Phospholipase D2 restores endothelial barrier function by promoting PTPN14-mediated VE-cadherin dephosphorylation.
    Title: Phospholipase D2 restores endothelial barrier function by promoting PTPN14-mediated VE-cadherin dephosphorylation.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Lymphedema-posterior choanal atresia syndrome
MedGen: C3150875 OMIM: 613611 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
EBI GWAS Catalog
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126803

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein tyrosine phosphatase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription coregulator activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in lymphangiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lymphangiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein dephosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of protein export from nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tyrosine-protein phosphatase non-receptor type 14
Names
cytoskeletal-associated protein tyrosine phosphatase
protein-tyrosine phosphatase pez
NP_005392.2
XP_016857430.1
XP_024304527.1
XP_047282323.1
XP_047282326.1
XP_047282330.1
XP_054193914.1
XP_054193915.1
XP_054193916.1
XP_054193917.1
XP_054193918.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028036.1 RefSeqGene

    Range
    5080..207982
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005401.5 → NP_005392.2  tyrosine-protein phosphatase non-receptor type 14

    See identical proteins and their annotated locations for NP_005392.2

    Status: REVIEWED

    Source sequence(s)
    AK291641, AL445305, AL603838, AL929236, DA738908
    Consensus CDS
    CCDS1514.1
    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0
    UniProtKB/TrEMBL
    A8K6H6
    Related
    ENSP00000355923.4, ENST00000366956.10
    Conserved Domains (3) summary
    smart00295
    Location:24 → 220
    B41; Band 4.1 homologues
    cd00047
    Location:935 → 1179
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd13188
    Location:215 → 305
    FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    214348700..214551602 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001941.2 → XP_016857430.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0
    UniProtKB/TrEMBL
    A8K6H6
    Conserved Domains (3) summary
    smart00295
    Location:24 → 220
    B41; Band 4.1 homologues
    cd00047
    Location:935 → 1179
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd13188
    Location:215 → 305
    FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

  2. XM_024448759.2 → XP_024304527.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0
    UniProtKB/TrEMBL
    A8K6H6
    Conserved Domains (3) summary
    smart00295
    Location:24 → 220
    B41; Band 4.1 homologues
    cd00047
    Location:935 → 1179
    PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
    cd13188
    Location:215 → 305
    FERM_C_PTPN14_PTPN21; FERM domain C-lobe of Protein tyrosine phosphatase non-receptor proteins 14 and 21 (PTPN14 and 21)

  3. XM_047426367.1 → XP_047282323.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

  4. XM_047426370.1 → XP_047282326.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

  5. XM_047426374.1 → XP_047282330.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    213588194..213791283 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337939.1 → XP_054193914.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

  2. XM_054337941.1 → XP_054193916.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

  3. XM_054337943.1 → XP_054193918.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

  4. XM_054337940.1 → XP_054193915.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0

  5. XM_054337942.1 → XP_054193917.1  tyrosine-protein phosphatase non-receptor type 14 isoform X1

    UniProtKB/Swiss-Prot
    Q15678, Q5VSI0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15678.2 GenPept UniProtKB/Swiss-Prot:Q15678

Gene LinkOut

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