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

Summary

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: mouse all
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Genomic context

Location:: 1q32.3-q41

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (214348700..214551602, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (213588194..213791283, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (214522043..214724945, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HPV18 E7 inhibits LATS1 kinase and activates YAP1 by degrading PTPN14.
Title: HPV18 E7 inhibits LATS1 kinase and activates YAP1 by degrading PTPN14.
PTPN14 aggravates neointimal hyperplasia via boosting PDGFRbeta signaling in smooth muscle cells.
Title: PTPN14 aggravates neointimal hyperplasia via boosting PDGFRβ signaling in smooth muscle cells.
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.
PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway.
Title: PTPN14 promotes gastric cancer progression by PI3KA/AKT/mTOR pathway.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2195 (e-PCR)
- UniSTS:4899

AL034163 (e-PCR)
- UniSTS:93991

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-76337 (e-PCR)
- UniSTS:64565

SHGC-76338 (e-PCR)
- UniSTS:2384

RH122727 (e-PCR)
- UniSTS:133998

G32781 (e-PCR)
- UniSTS:117361

D1S1778E (e-PCR)
- UniSTS:18802

STS-X82676 (e-PCR)
- UniSTS:21364

D1S1425 (e-PCR)
- UniSTS:149621

A009Q27 (e-PCR)
- UniSTS:949

SHGC-149569 (e-PCR)
- UniSTS:177085

PMC166143P2 (e-PCR)
- UniSTS:271565

D1S419 (e-PCR), detects polymorphism
- UniSTS:14077

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone H2AXY142 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
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 protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info
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 chromatin remodeling	IEA Inferred from Electronic Annotation more info
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

EC 3.1.3.48

XP_016857430.1

EC 3.1.3.48

XP_024304527.1

EC 3.1.3.48

XP_047282323.1

EC 3.1.3.48

XP_047282326.1

EC 3.1.3.48

XP_047282330.1

EC 3.1.3.48

XP_054193914.1

EC 3.1.3.48

XP_054193915.1

EC 3.1.3.48

XP_054193916.1

EC 3.1.3.48

XP_054193917.1

EC 3.1.3.48

XP_054193918.1

EC 3.1.3.48

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

NG_028036.1 RefSeqGene

Range

5080..207982

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

214348700..214551602 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6
XM_047426370.1 → XP_047282326.1 tyrosine-protein phosphatase non-receptor type 14 isoform X1

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6
XM_047426374.1 → XP_047282330.1 tyrosine-protein phosphatase non-receptor type 14 isoform X1

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

213588194..213791283 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6
XM_054337941.1 → XP_054193916.1 tyrosine-protein phosphatase non-receptor type 14 isoform X1

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6
XM_054337943.1 → XP_054193918.1 tyrosine-protein phosphatase non-receptor type 14 isoform X1

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6
XM_054337940.1 → XP_054193915.1 tyrosine-protein phosphatase non-receptor type 14 isoform X1

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6
XM_054337942.1 → XP_054193917.1 tyrosine-protein phosphatase non-receptor type 14 isoform X1

UniProtKB/Swiss-Prot

Q15678, Q5VSI0

UniProtKB/TrEMBL

A8K6H6