Gene Gene information from NCBI Gene database.
Entrez ID 9110
Gene name Myotubularin related protein 4
Gene symbol MTMR4
Synonyms (NCBI Gene)
FYVE-DSP2ZFYVE11
Chromosome 17
Chromosome location 17q22
miRNA miRNA information provided by mirtarbase database.
683
miRTarBase ID miRNA Experiments Reference
MIRT020319 hsa-miR-130b-3p Sequencing 20371350
MIRT027212 hsa-miR-103a-3p Sequencing 20371350
MIRT046004 hsa-miR-125b-5p CLASH 23622248
MIRT041608 hsa-miR-193b-3p CLASH 23622248
MIRT472802 hsa-miR-8066 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity IBA
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity IDA 11302699, 20736309
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity IEA
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity IMP 31543504
GO:0004438 Function Phosphatidylinositol-3-phosphate phosphatase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603559 7452 ENSG00000108389
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYA4
Protein name Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 (EC 3.1.3.95) (FYVE domain-containing dual specificity protein phosphatase 2) (FYVE-DSP2) (Myotubularin-related protein 4) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (Zinc finger FYVE do
Protein function Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:11302699, PubMed:16
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06602 Myotub-related 127 519 Myotubularin-like phosphatase domain Domain
PF01363 FYVE 1109 1175 FYVE zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow. {ECO:0000269|PubMed:11302699}.
Sequence
MGEEGPPSLEYIQAKDLFPPKELVKEEENLQVPFTVLQGEGVEFLGRAADALIAISNYRL
HIKFKDSVINVPLRMIDSVESRDMFQLHISCKDSKVVRCHFSTFKQCQEWLSRLSRATAR
PAKPEDLFAFAYHAWCLGLTEEDQHTHLCQPGEHIRCRQEAELARMGFDLQNVWRVSHIN
SNYKLCPSYPQKLLVPVWITDKELENVASFRSWKRIPVVVYRHLRNGAAIARCSQPEISW
WGWRNADDEYLVTSIAKACALDPGTRATGGSLSTGNNDTSEACDADFDSSLTACSGVEST
AAPQKLLILDARSYTAAVANRAKGGGCECEEYYPNCEVVFMGMANIHAIRNSFQYLRAVC
SQMPDPSNWLSALESTKWLQHLSVMLKAAVLVANTVDREGRPVLVHCSDGWDRTPQIVAL
AKILLDPYYRTLEGFQVLVESDWLDFGHKFGDRCGHQENVEDQNEQCPVFLQWLDSVHQL
LKQFPCLFEFNEAFLVKLVQHTYSCLYGTFLANNPCERE
KRNIYKRTCSVWALLRAGNKN
FHNFLYTPSSDMVLHPVCHVRALHLWTAVYLPASSPCTLGEENMDLYLSPVAQSQEFSGR
SLDRLPKTRSMDDLLSACDTSSPLTRTSSDPNLNNHCQEVRVGLEPWHSNPEGSETSFVD
SGVGGPQQTVGEVGLPPPLPSSQKDYLSNKPFKSHKSCSPSYKLLNTAVPREMKSNTSDP
EIKVLEETKGPAPDPSAQDELGRTLDGIGEPPEHCPETEAVSALSKVISNKCDGVCNFPE
SSQNSPTGTPQQAQPDSMLGVPSKCVLDHSLSTVCNPPSAACQTPLDPSTDFLNQDPSGS
VASISHQEQLSSVPDLTHGEEDIGKRGNNRNGQLLENPRFGKMPLELVRKPISQSQISEF
SFLGSNWDSFQGMVTSFPSGEATPRRLLSYGCCSKRPNSKQMRATGPCFGGQWAQREGVK
SPVCSSHSNGHCTGPGGKNQMWLSSHPKQVSSTKPVPLNCPSPVPPLYLDDDGLPFPTDV
IQHRLRQIEAGYKQEVEQLRRQVRELQMRLDIRHCCAPPAEPPMDYEDDFTCLKESDGSD
TEDFGSDHSEDCLSEASWEPVDKKETEVTRWVPDHMASHCYNCDCEFWLAKRRHHCRNCG
NVFCAGCCHLKLPIPDQQLYDPVLVCNSCYEHIQV
SRARELMSQQLKKPIATASS
Sequence length 1195
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Autophagy - animal
  Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane
Downregulation of TGF-beta receptor signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Aneurysm Ascending Aorta Associate 32678444
★☆☆☆☆
Found in Text Mining only
Astrocytoma Associate 27586084
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Associate 36456979
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 27586084
★☆☆☆☆
Found in Text Mining only
Long QT Syndrome Associate 32173736
★☆☆☆☆
Found in Text Mining only
Pulmonary edema of mountaineers Associate 30254217
★☆☆☆☆
Found in Text Mining only