PTPN4: Protein Tyrosine Phosphatase Non-Receptor Type 4

A non-receptor tyrosine phosphatase involved in immune signaling and neurodevelopment, with implications in cancer and neurological disorders.

Gene Information Card

Symbol PTPN4
Full Name Protein Tyrosine Phosphatase Non-Receptor Type 4
Gene Type Protein coding
Chromosomal Location 2q14.2
NCBI Gene ID 5775 ncbi.nlm.nih.gov/gene/5775
Ensembl ID ENSG00000115977
UniProt ID P29074
OMIM ID 176878
HGNC ID 9656
Aliases PTP-MEG1, MEG, PTPMEG

Description

PTPN4 encodes a non-receptor protein tyrosine phosphatase (PTP) that belongs to the PTP family. The protein contains a N-terminal FERM domain and a C-terminal catalytic phosphatase domain. It is involved in the regulation of cell growth, differentiation, and immune responses. PTPN4 is known to interact with and dephosphorylate various substrates, including the glutamate receptor subunit GluN2B, and plays a role in synaptic function and neurodevelopment. It also modulates T-cell receptor signaling and has been implicated in cancer and neurological disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulation of PTPN4 expression or activity may alter cell proliferation and survival pathways. COSMIC; literature
Neurodevelopmental disorders PTPN4 interacts with GluN2B; mutations may affect synaptic plasticity. OMIM; literature
Immune system disorders PTPN4 modulates T-cell receptor signaling; altered function may contribute to autoimmunity. UniProt; literature

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Lung 8.3 Low
Liver 6.1 Low
Kidney 9.7 Low
Testis 15.2 Medium
Spleen 11.4 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK 293 14.0 Embryonic kidney; moderate expression
HeLa 9.5 Cervical cancer; low expression
K562 7.8 Leukemia; low expression
SH-SY5Y 18.3 Neuroblastoma; high expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.1% Loss of function; truncated protein
c.567G>A (p.Trp189*) Nonsense <0.1% Loss of function; premature stop
c.890A>G (p.Tyr297Cys) Missense <0.1% Unknown; potential impact on catalytic activity
Mutation functional classification

Loss of Function (LOF)

Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional protein.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No evidence for dominant-negative effects.

Gene Ontology (GO)

• protein tyrosine phosphatase activity • dephosphorylation
• FERM domain binding • cell adhesion
• synaptic signaling • regulation of T cell activation

Pathways

T cell receptor signaling pathway
Neurotrophin signaling pathway
Glutamatergic synapse

Protein Summary

PTPN4 is a 926-amino acid protein with a FERM domain (residues 1-300) and a tyrosine phosphatase domain (residues 600-900). It localizes to the cytoplasm and cell membrane. The FERM domain mediates interactions with membrane proteins, while the phosphatase domain dephosphorylates phosphotyrosine residues on substrates such as GluN2B and ITK. PTPN4 regulates synaptic transmission and T-cell activation. Alternative splicing produces multiple isoforms.

Related Products

Product name Cat.No. Species Gene ID
PTPN4 Knockout HEK293 Cell Line EDJ-KQ5597 Human 5775 Details Get a Quote
PTPN4 Knockout A-549 Cell Line EDJ-KQ28875 Human 5775 Details Get a Quote
PTPN4 Knockout HCT 116 Cell Line EDJ-KQ28876 Human 5775 Details Get a Quote
PTPN4 Knockout HeLa Cell Line EDJ-KQ28877 Human 5775 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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