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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64419
Gene name Gene Name - the full gene name approved by the HGNC.	Myotubularin related protein 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTMR14
Synonyms (NCBI Gene) Gene synonyms aliases	C3orf29
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IDA	17008356
GO:0004438	Function	Phosphatidylinositol-3-phosphatase activity	IBA	21873635
GO:0004438	Function	Phosphatidylinositol-3-phosphatase activity	IDA	17008356
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212
GO:0005829	Component	Cytosol	TAS
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0016236	Process	Macroautophagy	TAS
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17008356

MIM	HGNC	e!Ensembl
611089	26190	ENSG00000163719

Protein

UniProt ID

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

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Centronuclear myopathy	Centronuclear myopathy, Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Myotubular Myopathy, Autosomal dominant centronuclear myopathy	rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598 View all (25 more)	19465920
Congenital myopathy with fiber type disproportion	Congenital Fiber Type Disproportion	rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772 View all (11 more)
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Myopathy	Myopathy, Centronuclear, Autosomal Dominant, Myopathy, Centronuclear, 1	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)	17008356, 19465920

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Peripheral axonal neuropathy	Peripheral axonal neuropathy	ClinVar
Ptosis	Blepharoptosis, Ptosis	ClinVar

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Colonic Neoplasms	Associate	35572821
Ovarian Neoplasms	Associate	35941978

MTMR14 (myotubularin related protein 14)