Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64419
Gene name	Myotubularin related protein 14
Gene symbol	MTMR14
Synonyms (NCBI Gene)	C3orf29
Chromosome	3
Chromosome location	3p25.3
Summary	This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated wit

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434509	G>A	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs121434510	A>G	Risk-factor	Non coding transcript variant, missense variant, coding sequence variant
rs375826804	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, synonymous variant

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021522	hsa-miR-145-5p	Reporter assay;Microarray	21351259
MIRT051539	hsa-let-7e-5p	CLASH	23622248
MIRT051539	hsa-let-7e-5p	CLASH	23622248
MIRT049480	hsa-miR-92a-3p	CLASH	23622248
MIRT041555	hsa-miR-193b-3p	CLASH	23622248
MIRT037362	hsa-miR-877-5p	CLASH	23622248
MIRT717912	hsa-miR-545-3p	HITS-CLIP	19536157
MIRT717911	hsa-miR-219a-1-3p	HITS-CLIP	19536157
MIRT717910	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT717909	hsa-miR-7977	HITS-CLIP	19536157
MIRT717912	hsa-miR-545-3p	HITS-CLIP	19536157
MIRT717911	hsa-miR-219a-1-3p	HITS-CLIP	19536157
MIRT717910	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT717909	hsa-miR-7977	HITS-CLIP	19536157
MIRT1163892	hsa-miR-1293	CLIP-seq
MIRT1163893	hsa-miR-4483	CLIP-seq
MIRT1163894	hsa-miR-4504	CLIP-seq
MIRT1551420	hsa-miR-1207-3p	CLIP-seq
MIRT2047155	hsa-miR-10a	CLIP-seq
MIRT2047156	hsa-miR-10b	CLIP-seq
MIRT2047157	hsa-miR-1178	CLIP-seq
MIRT2047158	hsa-miR-135a	CLIP-seq
MIRT2047159	hsa-miR-135b	CLIP-seq
MIRT2047160	hsa-miR-339-5p	CLIP-seq
MIRT2047161	hsa-miR-4421	CLIP-seq
MIRT2047162	hsa-miR-511	CLIP-seq
MIRT2047163	hsa-miR-9	CLIP-seq
MIRT2575031	hsa-miR-1182	CLIP-seq
MIRT1551420	hsa-miR-1207-3p	CLIP-seq
MIRT2047158	hsa-miR-135a	CLIP-seq
MIRT2047159	hsa-miR-135b	CLIP-seq
MIRT2575032	hsa-miR-1915	CLIP-seq
MIRT2575033	hsa-miR-193a-5p	CLIP-seq
MIRT2575034	hsa-miR-2115	CLIP-seq
MIRT2575035	hsa-miR-24	CLIP-seq
MIRT2575036	hsa-miR-3119	CLIP-seq
MIRT2575037	hsa-miR-3127-3p	CLIP-seq
MIRT2575038	hsa-miR-331-3p	CLIP-seq
MIRT2575039	hsa-miR-3611	CLIP-seq
MIRT2575040	hsa-miR-3622b-5p	CLIP-seq
MIRT2575041	hsa-miR-3661	CLIP-seq
MIRT2575042	hsa-miR-3679-3p	CLIP-seq
MIRT2575043	hsa-miR-3692	CLIP-seq
MIRT2575044	hsa-miR-3922-5p	CLIP-seq
MIRT2575045	hsa-miR-4437	CLIP-seq
MIRT2575046	hsa-miR-4457	CLIP-seq
MIRT2575047	hsa-miR-4639-5p	CLIP-seq
MIRT2575048	hsa-miR-4645-5p	CLIP-seq
MIRT2575049	hsa-miR-4665-3p	CLIP-seq
MIRT2575050	hsa-miR-4673	CLIP-seq
MIRT2575051	hsa-miR-4732-3p	CLIP-seq
MIRT2575052	hsa-miR-4755-3p	CLIP-seq
MIRT2575053	hsa-miR-513a-3p	CLIP-seq
MIRT2575054	hsa-miR-619	CLIP-seq
MIRT2575055	hsa-miR-631	CLIP-seq
MIRT2575056	hsa-miR-758	CLIP-seq
MIRT2047158	hsa-miR-135a	CLIP-seq
MIRT2047159	hsa-miR-135b	CLIP-seq
MIRT2575031	hsa-miR-1182	CLIP-seq
MIRT2047158	hsa-miR-135a	CLIP-seq
MIRT2047159	hsa-miR-135b	CLIP-seq
MIRT2575033	hsa-miR-193a-5p	CLIP-seq
MIRT2575034	hsa-miR-2115	CLIP-seq
MIRT2575036	hsa-miR-3119	CLIP-seq
MIRT2575037	hsa-miR-3127-3p	CLIP-seq
MIRT2575038	hsa-miR-331-3p	CLIP-seq
MIRT2575039	hsa-miR-3611	CLIP-seq
MIRT2575040	hsa-miR-3622b-5p	CLIP-seq
MIRT2575041	hsa-miR-3661	CLIP-seq
MIRT2575042	hsa-miR-3679-3p	CLIP-seq
MIRT2575043	hsa-miR-3692	CLIP-seq
MIRT2575046	hsa-miR-4457	CLIP-seq
MIRT2575048	hsa-miR-4645-5p	CLIP-seq
MIRT2575049	hsa-miR-4665-3p	CLIP-seq
MIRT2575050	hsa-miR-4673	CLIP-seq
MIRT2575051	hsa-miR-4732-3p	CLIP-seq
MIRT2575052	hsa-miR-4755-3p	CLIP-seq
MIRT2575053	hsa-miR-513a-3p	CLIP-seq
MIRT2575054	hsa-miR-619	CLIP-seq
MIRT2575055	hsa-miR-631	CLIP-seq
MIRT2575056	hsa-miR-758	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IDA	17008356
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IBA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IDA	17008356
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	TAS
GO:0004722	Function	Protein serine/threonine phosphatase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 25910212
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0016236	Process	Macroautophagy	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17008356
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	17008356
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS

MIM	HGNC	e!Ensembl
611089	26190	ENSG00000163719

Q8NCE2

Protein name

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 (EC 3.1.3.95) (HCV NS5A-transactivated protein 4 splice variant A-binding protein 1) (NS5ATP4ABP1) (Myotubularin-related protein 14) (Phosphatidylinositol-3-phosphate phosphatase) (hJumpy)

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. {ECO:0000269|PubMed:170083

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. {ECO:0000269|PubMed:17008356}.

Sequence

MAGARAAAAAASAGSSASSGNQPPQELGLGELLEEFSRTQYRAKDGSGTGGSKVERIEKR
CLELFGRDYCFSVIPNTNGDICGHYPRHIVFLEYESSEKEKDTFESTVQVSKLQDLIHRS
KMARCRGRFVCPVILFKGKHICRSATLAGWGELYGRSGYNYFFSGGADDAWADVEDVTEE
DCALRSGDTHLFDKVRGYDIKLLRYLSVKYICDLMVENKKVKFGMNVTSSEKVDKAQRYA
DFTLLSIPYPGCEFFKEYKDRDYMAEGLIFNWKQDYVDAPLSIPDFLTHSLNIDWSQYQC
WDLVQQTQNYLKLLLSLVNSDDDSGLLVHCISGWDRTPLFISLLRLSLWADGLIHTSLKP
TEILYLTVAYDWFLFGHMLVDRLSKGEEIFFFCFNFLKHITSEEFSALKTQRRKSLPARD
GGFTLEDICMLRRKDRGSTTSLGSDFSLVMESSPGATGSFTYEAVELVPAGAPTQAAWRK
SHSSSPQSVLWNRPQPSEDRLPSQQGLAEARSSSSSSSNHSDNFFRMGSSPLEVPKPRSV
DHPLPGSSLSTDYGSWQMVTGCGSIQERAVLHTDSSLPFSFPDELPNSCLLAALSDRETR
LQEVRSAFLAAYSSTVGLRAVAPSPSGAIGGLLEQFARGVGLRSISSNAL

Sequence length

650

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system Autophagy - animal		Macroautophagy Synthesis of PIPs at the plasma membrane

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)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant centronuclear myopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinVar, Orphanet ClinVar, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, OVARIAN EPITHELIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MTMR14-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asphyxia Neonatorum	Postnatal asphyxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant centronuclear myopathy	Centronuclear Myopathy	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	CTD_human_DG	30365097		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	30586604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	18817572, 30528881, 31029679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	GENOMICS_ENGLAND_DG	19465920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35572821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	LHGDN	17008356		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30586604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19465920, 30412589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	UNIPROT_DG	17008356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	GENOMICS_ENGLAND_DG	17008356, 19465920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	ORPHANET_DG	17008356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	GENOMICS_ENGLAND_DG	17008356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30586604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27807764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35941978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MTMR14 (myotubularin related protein 14)