PTPN18 protein tyrosine phosphatase non-receptor type 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPN18provided by HGNC
Official Full Name: protein tyrosine phosphatase non-receptor type 18provided by HGNC
Primary source: HGNC:HGNC:9649
See related: Ensembl:ENSG00000072135 MIM:606587; AllianceGenome:HGNC:9649
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: BDP1; PTP-HSCF
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, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Expression: Ubiquitous expression in lymph node (RPKM 34.1), spleen (RPKM 27.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q21.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (130356056..130375405)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (130789979..130809308)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (131113629..131132978)

Chromosome 2 - NC_000002.12 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatitis B Virus X Protein Represses Expression of Tumor Suppressor PTPN18 in Hepatocellular Carcinoma.
Title: Hepatitis B Virus X Protein Represses Expression of Tumor Suppressor PTPN18 in Hepatocellular Carcinoma.
PTPN18 Serves as a Potential Oncogene for Glioblastoma by Enhancing Immune Suppression.
Title: PTPN18 Serves as a Potential Oncogene for Glioblastoma by Enhancing Immune Suppression.
Phospho-PTM proteomic discovery of novel EPO- modulated kinases and phosphatases, including PTPN18 as a positive regulator of EPOR/JAK2 Signaling.
Title: Phospho-PTM proteomic discovery of novel EPO- modulated kinases and phosphatases, including PTPN18 as a positive regulator of EPOR/JAK2 Signaling.
Downregulation of PTPN18 can inhibit proliferation and metastasis and promote apoptosis of endometrial cancer
Title: Downregulation of PTPN18 can inhibit proliferation and metastasis and promote apoptosis of endometrial cancer.
PTPN12, PTPRN and PTPN18 were independent prognostic factors in Hepatocellular Carcinoma.
Title: Prognostic Value of Phosphotyrosine Phosphatases in Hepatocellular Carcinoma.
PTPN18 regulates HER2-mediated cellular functions through defining both its phosphorylation and ubiquitination barcodes.
Title: The catalytic region and PEST domain of PTPN18 distinctly regulate the HER2 phosphorylation and ubiquitination barcodes.
novel isoform of PTPN18 based on analysis of expressed sequence tags was discovered; deletion of 4 exons in the catalytic domain of the isoform may alter enzymatic activity; 2 of the novel isoform predictions were experimentally validated through RT-PCR
Title: A bioinformatics analysis of protein tyrosine phosphatases in humans.
BDP1 has a role in negative regulation of HER2 signaling
Title: Negative regulation of HER2 signaling by the PEST-type protein-tyrosine phosphatase BDP1.

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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

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

RH70023 (e-PCR)
- UniSTS:65048

RH66204 (e-PCR)
- UniSTS:72739

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

RH80366 (e-PCR)
- UniSTS:85067

L18426 (e-PCR)
- UniSTS:34648

RH11750 (e-PCR)
- UniSTS:48733

STS-X79568 (e-PCR)
- UniSTS:43379

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-31844 (e-PCR)
- UniSTS:76772

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	EXP Inferred from Experiment more info	PubMed
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in blastocyst formation	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERBB signaling pathway	TAS Traceable Author Statement more info
involved_in protein dephosphorylation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tyrosine-protein phosphatase non-receptor type 18

Names: brain-derived phosphatase; protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

NP_001135842.1

EC 3.1.3.48

NP_055184.2

EC 3.1.3.48

XP_006712479.1

EC 3.1.3.48

XP_006712480.1

EC 3.1.3.48

XP_047299865.1

EC 3.1.3.48

XP_047299866.1

EC 3.1.3.48

XP_054197334.1

EC 3.1.3.48

XP_054197335.1

EC 3.1.3.48

XP_054197336.1

EC 3.1.3.48

XP_054197337.1

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.

mRNA and Protein(s)

NM_001142370.2 → NP_001135842.1 tyrosine-protein phosphatase non-receptor type 18 isoform 2

See identical proteins and their annotated locations for NP_001135842.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks four internal exons in the 5' coding region that results in the loss of an in-frame segment, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC132479, AK303804, BM789073, CA310199, DN995571

Consensus CDS

CCDS46410.1

UniProtKB/TrEMBL

Q7Z637

Related

ENSP00000310092.5, ENST00000347849.7

Conserved Domains (2) summary

cd00047
Location:32 → 183

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 ...

pfam00102
Location:32 → 183

Y_phosphatase; Protein-tyrosine phosphatase
NM_014369.4 → NP_055184.2 tyrosine-protein phosphatase non-receptor type 18 isoform 1

See identical proteins and their annotated locations for NP_055184.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC132479, AK303804, BM789073, CA310199, DN995571, X79568

Consensus CDS

CCDS2161.1

UniProtKB/Swiss-Prot

B4E1E6, Q53P42, Q99952

Related

ENSP00000175756.5, ENST00000175756.10

Conserved Domains (2) summary

cd00047
Location:59 → 290

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 ...

pfam00102
Location:56 → 290

Y_phosphatase; Protein-tyrosine phosphatase

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

130356056..130375405

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712417.2 → XP_006712480.1 tyrosine-protein phosphatase non-receptor type 18 isoform X1

See identical proteins and their annotated locations for XP_006712480.1

Conserved Domains (2) summary

cd00047
Location:59 → 290

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 ...

pfam00102
Location:56 → 290

Y_phosphatase; Protein-tyrosine phosphatase
XM_006712416.5 → XP_006712479.1 tyrosine-protein phosphatase non-receptor type 18 isoform X2

UniProtKB/TrEMBL

Q7Z637

Conserved Domains (2) summary

cd00047
Location:32 → 183

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 ...

pfam00102
Location:32 → 183

Y_phosphatase; Protein-tyrosine phosphatase
XM_047443910.1 → XP_047299866.1 tyrosine-protein phosphatase non-receptor type 18 isoform X4
XM_047443909.1 → XP_047299865.1 tyrosine-protein phosphatase non-receptor type 18 isoform X3

Related

ENSP00000387031.2, ENST00000409022.2

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

130789979..130809308

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341359.1 → XP_054197334.1 tyrosine-protein phosphatase non-receptor type 18 isoform X1
XM_054341360.1 → XP_054197335.1 tyrosine-protein phosphatase non-receptor type 18 isoform X2
XM_054341362.1 → XP_054197337.1 tyrosine-protein phosphatase non-receptor type 18 isoform X4
XM_054341361.1 → XP_054197336.1 tyrosine-protein phosphatase non-receptor type 18 isoform X3