PTPRE protein tyrosine phosphatase receptor type E [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTPREprovided by HGNC
Official Full Name: protein tyrosine phosphatase receptor type Eprovided by HGNC
Primary source: HGNC:HGNC:9669
See related: Ensembl:ENSG00000132334 MIM:600926; AllianceGenome:HGNC:9669
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: PTPE; HPTPE; R-PTP-EPSILON
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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
Expression: Broad expression in bone marrow (RPKM 31.9), appendix (RPKM 9.8) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (127907103..128085855)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (128805632..128984409)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (129705367..129884119)

Chromosome 10 - NC_000010.11 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: 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?

Receptor Type Protein Tyrosine Phosphatase Epsilon (PTPRE) Plays an Oncogenic Role in Thyroid Carcinoma by Activating the AKT and ERK1/2 Signaling Pathway.
Title: Receptor Type Protein Tyrosine Phosphatase Epsilon (PTPRE) Plays an Oncogenic Role in Thyroid Carcinoma by Activating the AKT and ERK1/2 Signaling Pathway.
RPTPepsilon promotes M2-polarized macrophage migration through ROCK2 signaling and podosome formation.
Title: RPTPε promotes M2-polarized macrophage migration through ROCK2 signaling and podosome formation.
these data demonstrate that HCV infection reduces PTPRE expression in the liver and peripheral blood mononuclear cell sof infected humans
Title: Hepatitis C virus infection inhibits a Src-kinase regulatory phosphatase and reduces T cell activation in vivo.
Epidermal growth factor receptor (EGFR)-mediated positive feedback of protein-tyrosine phosphatase epsilon (PTPepsilon) on ERK1/2 and AKT protein pathways is required for survival of human breast cancer cells.
Title: Epidermal growth factor receptor (EGFR)-mediated positive feedback of protein-tyrosine phosphatase epsilon (PTPepsilon) on ERK1/2 and AKT protein pathways is required for survival of human breast cancer cells.
Studies indicate that RAD50 and PTPRE of crude associations with asthma at a Bonferroni-corrected level of significance, while IL4R, CCL5 and TBXA2R of nominal significance.
Title: Attempted replication of 50 reported asthma risk genes identifies a SNP in RAD50 as associated with childhood atopic asthma.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genes to diseases (G2D) computational method to identify asthma candidate genes.
Protein-tyrosine phosphatase epsilon regulates Shc signaling in a kinase-specific manner: increasing coherence in tyrosine phosphatase signaling
Title: Protein-tyrosine phosphatase epsilon regulates Shc signaling in a kinase-specific manner: increasing coherence in tyrosine phosphatase signaling.
cyt-PTP epsilon is dimerized and phosphorylated in the absence of direct interaction between the PTP and extracellular molecules
Title: Dimerization in vivo and inhibition of the nonreceptor form of protein tyrosine phosphatase epsilon.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association with select biomarker traits in the Framingham Heart Study. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies PTPRE, a member of the protein tyrosine phosphatase family, is important for HIV-1 replication	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-68389 (e-PCR)
- UniSTS:100620

G19703 (e-PCR)
- UniSTS:21008

A001W02 (e-PCR)
- UniSTS:21009

D10S2229 (e-PCR)
- UniSTS:10527

D10S1623 (e-PCR)
- UniSTS:154159

D8S2279 (e-PCR)
- UniSTS:473907

T15921 (e-PCR)
- UniSTS:30521

D10S1404E (e-PCR)
- UniSTS:151402

RH44546 (e-PCR)
- UniSTS:74604

D20S433 (e-PCR)
- UniSTS:19125

D10S1554 (e-PCR)
- UniSTS:15799

SHGC-80969 (e-PCR)
- UniSTS:102596

PTPRE_4144 (e-PCR)
- UniSTS:463835

A008Y06 (e-PCR)
- UniSTS:61405

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, metal-dependent	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine phosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein dephosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: receptor-type tyrosine-protein phosphatase epsilon

Names: protein tyrosine phosphatase, receptor type, epsilon polypeptide

NP_001303605.1

EC 3.1.3.48

NP_001303606.1

EC 3.1.3.48

NP_001310283.1

EC 3.1.3.48

NP_001310284.1

EC 3.1.3.48

NP_001310285.1

EC 3.1.3.48

NP_001310286.1

EC 3.1.3.48

NP_006495.1

EC 3.1.3.48

NP_569119.1

EC 3.1.3.48

XP_005252748.1

EC 3.1.3.48

XP_011538296.1

EC 3.1.3.48

XP_011538297.1

EC 3.1.3.48

XP_011538298.1

EC 3.1.3.48

XP_011538300.1

EC 3.1.3.48

XP_016871956.1

EC 3.1.3.48

XP_016871958.1

EC 3.1.3.48

XP_047281532.1

EC 3.1.3.48

XP_047281533.1

EC 3.1.3.48

XP_047281534.1

EC 3.1.3.48

XP_047281535.1

EC 3.1.3.48

XP_047281536.1

EC 3.1.3.48

XP_047281537.1

EC 3.1.3.48

XP_047281538.1

EC 3.1.3.48

XP_047281539.1

EC 3.1.3.48

XP_047281540.1

EC 3.1.3.48

XP_054222415.1

EC 3.1.3.48

XP_054222416.1

EC 3.1.3.48

XP_054222417.1

EC 3.1.3.48

XP_054222418.1

EC 3.1.3.48

XP_054222419.1

EC 3.1.3.48

XP_054222420.1

EC 3.1.3.48

XP_054222421.1

EC 3.1.3.48

XP_054222422.1

EC 3.1.3.48

XP_054222423.1

EC 3.1.3.48

XP_054222424.1

EC 3.1.3.48

XP_054222425.1

EC 3.1.3.48

XP_054222426.1

EC 3.1.3.48

XP_054222427.1

EC 3.1.3.48

XP_054222428.1

EC 3.1.3.48

XP_054222429.1

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_029511.1 RefSeqGene

Range

5043..183795

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001316676.2 → NP_001303605.1 receptor-type tyrosine-protein phosphatase epsilon isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes isoform 3.

Source sequence(s)

AF406557, AK026334, AL390236, BC031078, BC050062, BC071573, X54134

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:145 → 404

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:172 → 404

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 ...
NM_001316677.2 → NP_001303606.1 receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon in place of the first 3 exons and lacks a large part of the 3' UTR compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3. The encoded protein is a receptor type isoform of this PTP. Variants 1, 4, and 5 all encode the same isoform (1).

Source sequence(s)

AK026334, AK291828, BC071573

Consensus CDS

CCDS7657.1

UniProtKB/Swiss-Prot

P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:134 → 393

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:453 → 688

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 ...
NM_001323354.2 → NP_001310283.1 receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5), along with variants 1 and 4, encodes isoform 1.

Source sequence(s)

AL390236

Consensus CDS

CCDS7657.1

UniProtKB/Swiss-Prot

P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:134 → 393

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:453 → 688

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 ...
NM_001323355.2 → NP_001310284.1 receptor-type tyrosine-protein phosphatase epsilon isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL158166, AL390236

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:154 → 413

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:181 → 413

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 ...
NM_001323356.2 → NP_001310285.1 receptor-type tyrosine-protein phosphatase epsilon isoform 5 precursor

Status: REVIEWED

Source sequence(s)

AL158166, AL390236

UniProtKB/TrEMBL

A8K2Z9
NM_001323357.2 → NP_001310286.1 receptor-type tyrosine-protein phosphatase epsilon isoform 6

Status: REVIEWED

Source sequence(s)

AL390236

Conserved Domains (1) summary

cl28904
Location:260 → 469

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_006504.6 → NP_006495.1 receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor

See identical proteins and their annotated locations for NP_006495.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks a 5' exon compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3. The encoded protein is a receptor type isoform of this PTP. Variants 1, 4, and 5 all encode the same isoform (1).

Source sequence(s)

AF406557, AK026334, AL390236, BC031078, BC071573, X54134

Consensus CDS

CCDS7657.1

UniProtKB/Swiss-Prot

P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6

UniProtKB/TrEMBL

A8K2Z9

Related

ENSP00000254667.3, ENST00000254667.8

Conserved Domains (2) summary

smart00194
Location:134 → 393

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:453 → 688

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 ...
NM_130435.5 → NP_569119.1 receptor-type tyrosine-protein phosphatase epsilon isoform 2

See identical proteins and their annotated locations for NP_569119.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in place of the first 5 exons compared to variant 3. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 3. The encoded protein is a cytoplasmic isoform of this PTP.

Source sequence(s)

AK026334, AK290414, AL390236, BC071573, DA470230

Consensus CDS

CCDS7658.1

UniProtKB/TrEMBL

A8K2Z9

Related

ENSP00000303350.5, ENST00000306042.9

Conserved Domains (2) summary

smart00194
Location:76 → 335

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:103 → 335

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 ...

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_000010.11 Reference GRCh38.p14 Primary Assembly

Range

127907103..128085855

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425578.1 → XP_047281534.1 receptor-type tyrosine-protein phosphatase epsilon isoform X7
XM_017016467.2 → XP_016871956.1 receptor-type tyrosine-protein phosphatase epsilon isoform X1

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:154 → 413

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:181 → 413

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 ...
XM_011539995.2 → XP_011538297.1 receptor-type tyrosine-protein phosphatase epsilon isoform X3

UniProtKB/TrEMBL

B4DUE5

Conserved Domains (2) summary

smart00194
Location:154 → 413

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:181 → 413

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 ...
XM_011539996.2 → XP_011538298.1 receptor-type tyrosine-protein phosphatase epsilon isoform X4

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:154 → 413

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:181 → 413

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 ...
XM_011539994.3 → XP_011538296.1 receptor-type tyrosine-protein phosphatase epsilon isoform X2

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:154 → 412

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:181 → 412

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 ...
XM_017016469.3 → XP_016871958.1 receptor-type tyrosine-protein phosphatase epsilon isoform X12
XM_011539998.2 → XP_011538300.1 receptor-type tyrosine-protein phosphatase epsilon isoform X14

Conserved Domains (2) summary

smart00194
Location:154 → 355

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:181 → 355

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 ...
XM_047425577.1 → XP_047281533.1 receptor-type tyrosine-protein phosphatase epsilon isoform X5
XM_047425576.1 → XP_047281532.1 receptor-type tyrosine-protein phosphatase epsilon isoform X16
XM_005252691.3 → XP_005252748.1 receptor-type tyrosine-protein phosphatase epsilon isoform X6

See identical proteins and their annotated locations for XP_005252748.1

UniProtKB/Swiss-Prot

P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6

UniProtKB/TrEMBL

A8K2Z9

Conserved Domains (2) summary

smart00194
Location:134 → 393

PTPc; Protein tyrosine phosphatase, catalytic domain

cd00047
Location:453 → 688

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 ...
XM_047425582.1 → XP_047281538.1 receptor-type tyrosine-protein phosphatase epsilon isoform X11
XM_047425579.1 → XP_047281535.1 receptor-type tyrosine-protein phosphatase epsilon isoform X8
XM_047425580.1 → XP_047281536.1 receptor-type tyrosine-protein phosphatase epsilon isoform X9
XM_047425581.1 → XP_047281537.1 receptor-type tyrosine-protein phosphatase epsilon isoform X10
XM_047425583.1 → XP_047281539.1 receptor-type tyrosine-protein phosphatase epsilon isoform X13
XM_047425584.1 → XP_047281540.1 receptor-type tyrosine-protein phosphatase epsilon isoform X15

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

128805632..128984409

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366446.1 → XP_054222421.1 receptor-type tyrosine-protein phosphatase epsilon isoform X7
XM_054366440.1 → XP_054222415.1 receptor-type tyrosine-protein phosphatase epsilon isoform X1
XM_054366442.1 → XP_054222417.1 receptor-type tyrosine-protein phosphatase epsilon isoform X3
XM_054366443.1 → XP_054222418.1 receptor-type tyrosine-protein phosphatase epsilon isoform X4
XM_054366441.1 → XP_054222416.1 receptor-type tyrosine-protein phosphatase epsilon isoform X2
XM_054366451.1 → XP_054222426.1 receptor-type tyrosine-protein phosphatase epsilon isoform X12
XM_054366453.1 → XP_054222428.1 receptor-type tyrosine-protein phosphatase epsilon isoform X14
XM_054366444.1 → XP_054222419.1 receptor-type tyrosine-protein phosphatase epsilon isoform X5
XM_054366445.1 → XP_054222420.1 receptor-type tyrosine-protein phosphatase epsilon isoform X6

UniProtKB/Swiss-Prot

P23469, Q13345, Q5VWH3, Q5VWH4, Q96KQ6
XM_054366450.1 → XP_054222425.1 receptor-type tyrosine-protein phosphatase epsilon isoform X11
XM_054366447.1 → XP_054222422.1 receptor-type tyrosine-protein phosphatase epsilon isoform X8
XM_054366448.1 → XP_054222423.1 receptor-type tyrosine-protein phosphatase epsilon isoform X9
XM_054366449.1 → XP_054222424.1 receptor-type tyrosine-protein phosphatase epsilon isoform X10
XM_054366452.1 → XP_054222427.1 receptor-type tyrosine-protein phosphatase epsilon isoform X13
XM_054366454.1 → XP_054222429.1 receptor-type tyrosine-protein phosphatase epsilon isoform X15