Gene Gene information from NCBI Gene database.
Entrez ID 5775
Gene name Protein tyrosine phosphatase non-receptor type 4
Gene symbol PTPN4
Synonyms (NCBI Gene)
MEGPTPMEGPTPMEG1
Chromosome 2
Chromosome location 2q14.2
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 tran
miRNA miRNA information provided by mirtarbase database.
793
miRTarBase ID miRNA Experiments Reference
MIRT020328 hsa-miR-130b-3p Sequencing 20371350
MIRT025984 hsa-miR-148a-3p Sequencing 20371350
MIRT028116 hsa-miR-93-5p Sequencing 20371350
MIRT031282 hsa-miR-19b-3p Sequencing 20371350
MIRT700509 hsa-miR-4438 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0004726 Function Non-membrane spanning protein tyrosine phosphatase activity IEA
GO:0004726 Function Non-membrane spanning protein tyrosine phosphatase activity TAS 1648233
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176878 9656 ENSG00000088179
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29074
Protein name Tyrosine-protein phosphatase non-receptor type 4 (EC 3.1.3.48) (Protein-tyrosine phosphatase MEG1) (MEG) (PTPase-MEG1)
Protein function Phosphatase that plays a role in immunity, learning, synaptic plasticity or cell homeostasis (PubMed:25825441, PubMed:27246854). Regulates neuronal cell homeostasis by protecting neurons against apoptosis (PubMed:20086240). Negatively regulates
PDB 2CS5 , 2I75 , 2VPH , 3NFK , 3NFL , 5EYZ , 5EZ0 , 7VZE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09379 FERM_N 33 97 FERM N-terminal domain Domain
PF00373 FERM_M 113 222 FERM central domain Domain
PF09380 FERM_C 226 316 FERM C-terminal PH-like domain Domain
PF08736 FA 323 366 FERM adjacent (FA) Family
PF00595 PDZ 517 602 PDZ domain Domain
PF00102 Y_phosphatase 679 910 Protein-tyrosine phosphatase Domain
Sequence
MTSRFRLPAGRTYNVRASELARDRQHTEVVCNILLLDNTVQAFKVNKHDQGQVLLDVVFK
HLDLTEQDYFGLQLADDSTDNPRWLDPNKPIRKQLKR
GSPYSLNFRVKFFVSDPNKLQEE
YTRYQYFLQIKQDILTGRLPCPSNTAALLASFAVQSELGDYDQSENLSGYLSDYSFIPNQ
PQDFEKEIAKLHQQHIGLSPAEAEFNYLNTARTLELYGVEFH
YARDQSNNEIMIGVMSGG
ILIYKNRVRMNTFPWLKIVKISFKCKQFFIQLRKELHESRETLLGFNMVNYRACKNLWKA
CVEHHTFFRLDRPLPP
QKNFFAHYFTLGSKFRYCGRTEVQSVQYGKEKANKDRVFARSPS
KPLARK
LMDWEVVSRNSISDDRLETQSLPSRSPPGTPNHRNSTFTQEGTRLRPSSVGHLV
DHMVHTSPSEVFVNQRSPSSTQANSIVLESSPSQETPGDGKPPALPPKQSKKNSWNQIHY
SHSQQDLESHINETFDIPSSPEKPTPNGGIPHDNLVLIRMKPDENGRFGFNVKGGYDQKM
PVIVSRVAPGTPADLCVPRLNEGDQVVLINGRDIAEHTHDQVVLFIKASCERHSGELMLL
VR
PNAVYDVVEEKLENEPDFQYIPEKAPLDSVHQDDHSLRESMIQLAEGLITGTVLTQFD
QLYRKKPGMTMSCAKLPQNISKNRYRDISPYDATRVILKGNEDYINANYINMEIPSSSII
NQYIACQGPLPHTCTDFWQMTWEQGSSMVVMLTTQVERGRVKCHQYWPEPTGSSSYGCYQ
VTCHSEEGNTAYIFRKMTLFNQEKNESRPLTQIQYIAWPDHGVPDDSSDFLDFVCHVRNK
RAGKEEPVVVHCSAGIGRTGVLITMETAMCLIECNQPVYPLDIVRTMRDQRAMMIQTPSQ
YRFVCEAILK
VYEEGFVKPLTTSTNK
Sequence length 926
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Toll Like Receptor 4 (TLR4) Cascade
Interleukin-37 signaling
MECP2 regulates neuronal receptors and channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1679218434 RCV001293771
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Pathogenic; Likely pathogenic rs2105059931, rs1677776275 RCV002273316
RCV004594847
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1 Likely pathogenic rs147418905 RCV005926975
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PTPN4-related disorder Pathogenic rs1451229797 RCV003994510
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DUPUYTREN CONTRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSPEPSIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 26087292
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 16010437, 8058309
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 22249109
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 30106156
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 18362358
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31025789
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 31603228
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 31402760
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 31518951
★☆☆☆☆
Found in Text Mining only
Epilepsies, Partial Epilepsy BEFREE 29886184
★☆☆☆☆
Found in Text Mining only