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	4534
Gene name	Myotubularin 1
Gene symbol	MTM1
Synonyms (NCBI Gene)	CNMCNMXMTMXXLMTM
Chromosome	X
Chromosome location	Xq28
Summary	This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [pr

162

Show/Hide all (162)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34119065	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs132630302	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs132630303	A>G	Pathogenic	Coding sequence variant, missense variant
rs132630304	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs132630305	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs132630306	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs132630307	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs150430628	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368335697	G>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs397518445	A>G	Pathogenic	Intron variant
rs398123264	T>G	Pathogenic	Stop gained, coding sequence variant
rs398123267	->CCTAT	Pathogenic	Frameshift variant, coding sequence variant
rs398123268	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123270	GA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398123272	G>T	Pathogenic	Splice donor variant
rs398123273	CCTGC>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs398123274	T>C	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs398123275	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs587783750	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783751	G>A,C	Pathogenic	Splice donor variant
rs587783752	AA>-,AAA	Pathogenic	Frameshift variant, coding sequence variant
rs587783753	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs587783754	C>G	Pathogenic	Missense variant, coding sequence variant
rs587783755	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783756	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783757	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783758	A>T	Pathogenic	Missense variant, coding sequence variant
rs587783759	C>A	Pathogenic	Missense variant, coding sequence variant
rs587783760	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783761	T>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587783762	G>C	Pathogenic	Missense variant, coding sequence variant
rs587783763	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783764	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783765	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783766	G>A	Pathogenic	Missense variant, coding sequence variant
rs587783768	G>A	Pathogenic	Splice donor variant
rs587783769	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587783770	G>C	Pathogenic	Splice acceptor variant
rs587783771	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783772	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587783773	ACCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783774	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783775	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783776	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783777	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783778	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783779	G>A	Pathogenic	Splice donor variant
rs587783780	T>C	Pathogenic	Splice donor variant
rs587783782	G>A	Pathogenic	Splice acceptor variant
rs587783783	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587783785	A>G,T	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs587783786	G>T	Pathogenic	Stop gained, coding sequence variant
rs587783787	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783788	AAA>-	Pathogenic	Genic upstream transcript variant, inframe deletion, coding sequence variant
rs587783789	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587783791	AGAA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783792	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783793	G>T	Pathogenic	Missense variant, coding sequence variant
rs587783794	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783795	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783796	G>A,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs587783797	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783798	G>A,T	Pathogenic	Splice donor variant
rs587783799	T>A	Pathogenic	Splice donor variant
rs587783800	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587783801	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783802	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783803	CATA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783804	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783805	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783809	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs587783810	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs587783811	T>G	Pathogenic	Splice donor variant, genic upstream transcript variant
rs587783812	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs587783813	A>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs587783814	C>A	Pathogenic	Genic upstream transcript variant, intron variant
rs587783815	T>-	Pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587783816	T>C	Pathogenic	Missense variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587783817	T>G	Pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant
rs587783818	A>G	Pathogenic	Missense variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587783819	A>T	Pathogenic	Genic upstream transcript variant, stop gained, intron variant, coding sequence variant
rs587783820	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs587783821	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587783822	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783823	G>A	Pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant
rs587783824	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783825	C>G,T	Likely-benign, pathogenic	Synonymous variant, genic upstream transcript variant, stop gained, coding sequence variant
rs587783826	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783827	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs587783828	G>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587783830	G>T	Pathogenic	Splice donor variant
rs587783831	A>G	Pathogenic	Splice acceptor variant
rs587783832	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783833	ATCACCA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs587783834	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587783835	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783836	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783838	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783839	TTAC>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs587783840	T>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783841	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783842	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783843	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs587783844	A>T	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs587783845	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783846	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587783847	C>A,T	Pathogenic	Synonymous variant, 5 prime UTR variant, stop gained, coding sequence variant
rs587783848	C>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783849	G>A	Pathogenic	Splice donor variant
rs587783850	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783851	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783853	G>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587783854	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783855	A>C	Pathogenic	Missense variant, coding sequence variant
rs587783856	T>G	Pathogenic	Missense variant, coding sequence variant
rs587783857	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs587783858	G>A	Pathogenic	Splice donor variant
rs587783859	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783860	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783862	CTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs587783863	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783864	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783865	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs672601324	G>A	Likely-pathogenic	Splice acceptor variant
rs672601325	T>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs781933660	G>A	Pathogenic	Coding sequence variant, missense variant
rs782234944	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs797044503	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044504	AAGT>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs797045709	->T	Pathogenic	Frameshift variant, coding sequence variant
rs797045711	AG>T	Pathogenic	Frameshift variant, coding sequence variant
rs797045712	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045713	CCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs797045714	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs797045715	AACAGGTAA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs797045717	AGTAA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant, genic upstream transcript variant
rs797045718	->A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs797045719	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797045720	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045721	->GG	Pathogenic	Splice donor variant, coding sequence variant
rs797045722	->A	Pathogenic	Frameshift variant, coding sequence variant
rs797045724	->T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs878853069	T>G	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs878853108	TAA>-	Pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs886039522	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886041343	->A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886041657	C>A	Pathogenic	Stop gained, coding sequence variant
rs886044770	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886044782	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886044840	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1057516031	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1557412659	T>A	Pathogenic	Intron variant, genic upstream transcript variant
rs1557413092	G>A	Pathogenic	Intron variant, genic upstream transcript variant, splice donor variant
rs1557413783	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1557414513	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1569565497	A>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569565525	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603123976	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603124201	G>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603184989	TGGA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603185038	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603192748	T>-	Pathogenic	Coding sequence variant, frameshift variant

117

Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755861	hsa-miR-423-5p	Luciferase reporter assayWestern blottingqRT-PCRRNA pull down assay	35177076
MIRT1163585	hsa-miR-124	CLIP-seq
MIRT1163586	hsa-miR-1271	CLIP-seq
MIRT1163587	hsa-miR-137	CLIP-seq
MIRT1163588	hsa-miR-182	CLIP-seq
MIRT1163589	hsa-miR-223	CLIP-seq
MIRT1163590	hsa-miR-3154	CLIP-seq
MIRT1163591	hsa-miR-3163	CLIP-seq
MIRT1163592	hsa-miR-339-5p	CLIP-seq
MIRT1163593	hsa-miR-34a	CLIP-seq
MIRT1163594	hsa-miR-34c-5p	CLIP-seq
MIRT1163595	hsa-miR-3924	CLIP-seq
MIRT1163596	hsa-miR-4328	CLIP-seq
MIRT1163597	hsa-miR-449a	CLIP-seq
MIRT1163598	hsa-miR-449b	CLIP-seq
MIRT1163599	hsa-miR-4528	CLIP-seq
MIRT1163600	hsa-miR-4659a-5p	CLIP-seq
MIRT1163601	hsa-miR-4659b-5p	CLIP-seq
MIRT1163602	hsa-miR-4697-3p	CLIP-seq
MIRT1163603	hsa-miR-4776-3p	CLIP-seq
MIRT1163604	hsa-miR-4777-5p	CLIP-seq
MIRT1163605	hsa-miR-506	CLIP-seq
MIRT1163606	hsa-miR-518d-5p	CLIP-seq
MIRT1163607	hsa-miR-519b-5p	CLIP-seq
MIRT1163608	hsa-miR-519c-5p	CLIP-seq
MIRT1163609	hsa-miR-520c-5p	CLIP-seq
MIRT1163610	hsa-miR-526a	CLIP-seq
MIRT1163611	hsa-miR-548c-3p	CLIP-seq
MIRT1163612	hsa-miR-630	CLIP-seq
MIRT1163613	hsa-miR-659	CLIP-seq
MIRT1163614	hsa-miR-802	CLIP-seq
MIRT1163615	hsa-miR-96	CLIP-seq
MIRT2047030	hsa-miR-3150a-3p	CLIP-seq
MIRT2047031	hsa-miR-3175	CLIP-seq
MIRT2047032	hsa-miR-342-5p	CLIP-seq
MIRT2047033	hsa-miR-4282	CLIP-seq
MIRT2047034	hsa-miR-4651	CLIP-seq
MIRT2047035	hsa-miR-4664-5p	CLIP-seq
MIRT2047036	hsa-miR-4728-5p	CLIP-seq
MIRT2047037	hsa-miR-491-5p	CLIP-seq
MIRT2047038	hsa-miR-513a-3p	CLIP-seq
MIRT2047039	hsa-miR-520d-5p	CLIP-seq
MIRT2047040	hsa-miR-524-5p	CLIP-seq
MIRT1163611	hsa-miR-548c-3p	CLIP-seq
MIRT2047041	hsa-miR-608	CLIP-seq
MIRT2047042	hsa-miR-939	CLIP-seq
MIRT1163591	hsa-miR-3163	CLIP-seq
MIRT2276048	hsa-miR-324-5p	CLIP-seq
MIRT2276049	hsa-miR-365	CLIP-seq
MIRT2276050	hsa-miR-374c	CLIP-seq
MIRT2276051	hsa-miR-3908	CLIP-seq
MIRT2276052	hsa-miR-3942-5p	CLIP-seq
MIRT2047033	hsa-miR-4282	CLIP-seq
MIRT2276053	hsa-miR-4703-5p	CLIP-seq
MIRT2276054	hsa-miR-4766-3p	CLIP-seq
MIRT2047038	hsa-miR-513a-3p	CLIP-seq
MIRT2276055	hsa-miR-655	CLIP-seq
MIRT2047039	hsa-miR-520d-5p	CLIP-seq
MIRT2047040	hsa-miR-524-5p	CLIP-seq
MIRT2574962	hsa-miR-15a	CLIP-seq
MIRT2574963	hsa-miR-15b	CLIP-seq
MIRT2574964	hsa-miR-16	CLIP-seq
MIRT2574965	hsa-miR-186	CLIP-seq
MIRT2574966	hsa-miR-195	CLIP-seq
MIRT2574967	hsa-miR-214	CLIP-seq
MIRT2574968	hsa-miR-2278	CLIP-seq
MIRT2574969	hsa-miR-3064-3p	CLIP-seq
MIRT2574970	hsa-miR-3170	CLIP-seq
MIRT2574971	hsa-miR-3189-3p	CLIP-seq
MIRT2574972	hsa-miR-3619-5p	CLIP-seq
MIRT2574973	hsa-miR-362-5p	CLIP-seq
MIRT2574974	hsa-miR-424	CLIP-seq
MIRT2574975	hsa-miR-4260	CLIP-seq
MIRT2574976	hsa-miR-4423-3p	CLIP-seq
MIRT2574977	hsa-miR-450a	CLIP-seq
MIRT2574978	hsa-miR-4520a-3p	CLIP-seq
MIRT2574979	hsa-miR-4520b-3p	CLIP-seq
MIRT2574980	hsa-miR-4715-3p	CLIP-seq
MIRT2574981	hsa-miR-4753-3p	CLIP-seq
MIRT1163603	hsa-miR-4776-3p	CLIP-seq
MIRT2574982	hsa-miR-497	CLIP-seq
MIRT2574983	hsa-miR-500b	CLIP-seq
MIRT2574984	hsa-miR-543	CLIP-seq
MIRT2574985	hsa-miR-548aa	CLIP-seq
MIRT2574986	hsa-miR-570	CLIP-seq
MIRT2574987	hsa-miR-590-3p	CLIP-seq
MIRT2574988	hsa-miR-761	CLIP-seq
MIRT2574989	hsa-miR-9	CLIP-seq
MIRT2574962	hsa-miR-15a	CLIP-seq
MIRT2574963	hsa-miR-15b	CLIP-seq
MIRT2574964	hsa-miR-16	CLIP-seq
MIRT2574965	hsa-miR-186	CLIP-seq
MIRT2574966	hsa-miR-195	CLIP-seq
MIRT2574967	hsa-miR-214	CLIP-seq
MIRT2574968	hsa-miR-2278	CLIP-seq
MIRT2574969	hsa-miR-3064-3p	CLIP-seq
MIRT2574970	hsa-miR-3170	CLIP-seq
MIRT2574971	hsa-miR-3189-3p	CLIP-seq
MIRT2574972	hsa-miR-3619-5p	CLIP-seq
MIRT2574973	hsa-miR-362-5p	CLIP-seq
MIRT2574974	hsa-miR-424	CLIP-seq
MIRT2574975	hsa-miR-4260	CLIP-seq
MIRT2574976	hsa-miR-4423-3p	CLIP-seq
MIRT2574977	hsa-miR-450a	CLIP-seq
MIRT2574978	hsa-miR-4520a-3p	CLIP-seq
MIRT2574979	hsa-miR-4520b-3p	CLIP-seq
MIRT2574980	hsa-miR-4715-3p	CLIP-seq
MIRT2574981	hsa-miR-4753-3p	CLIP-seq
MIRT1163603	hsa-miR-4776-3p	CLIP-seq
MIRT2574982	hsa-miR-497	CLIP-seq
MIRT2574983	hsa-miR-500b	CLIP-seq
MIRT2574984	hsa-miR-543	CLIP-seq
MIRT2574985	hsa-miR-548aa	CLIP-seq
MIRT2574986	hsa-miR-570	CLIP-seq
MIRT2574987	hsa-miR-590-3p	CLIP-seq
MIRT2574988	hsa-miR-761	CLIP-seq
MIRT2574989	hsa-miR-9	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IEA
GO:0001726	Component	Ruffle	IDA	12118066
GO:0001726	Component	Ruffle	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IBA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IDA	10900271
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	TAS
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	9537414
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	12847286, 21135508, 23917616, 26760201
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10900271, 12118066, 12217958
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	14722070
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	12118066, 12217958, 12847286
GO:0005886	Component	Plasma membrane	IEA
GO:0006470	Process	Protein dephosphorylation	IDA	9537414
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007005	Process	Mitochondrion organization	IDA	21135508
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008333	Process	Endosome to lysosome transport	IDA	14722070
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019215	Function	Intermediate filament binding	IDA	21135508
GO:0030017	Component	Sarcomere	IEA
GO:0030175	Component	Filopodium	IDA	12118066
GO:0030175	Component	Filopodium	IEA
GO:0031674	Component	I band	IEA
GO:0031929	Process	TOR signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0035091	Function	Phosphatidylinositol binding	IDA	14722070
GO:0042995	Component	Cell projection	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0044088	Process	Regulation of vacuole organization	IDA	14722070
GO:0045109	Process	Intermediate filament organization	IMP	21135508
GO:0046716	Process	Muscle cell cellular homeostasis	IBA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	10900271, 12646134
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0048311	Process	Mitochondrion distribution	IBA
GO:0048311	Process	Mitochondrion distribution	IEA
GO:0048311	Process	Mitochondrion distribution	IMP	21135508
GO:0048630	Process	Skeletal muscle tissue growth	IEA
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	12646134
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS
GO:1902902	Process	Negative regulation of autophagosome assembly	IBA
GO:1902902	Process	Negative regulation of autophagosome assembly	IEA

MIM	HGNC	e!Ensembl
300415	7448	ENSG00000171100

Q13496

Protein name

Myotubularin (EC 3.1.3.95) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (Phosphatidylinositol-3-phosphate phosphatase)

Protein function

Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:10900271, PubMed:11001925, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphoryla

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02893	GRAM	27 → 143	GRAM domain	Domain
PF06602	Myotub-related	150 → 487	Myotubularin-like phosphatase domain	Domain

Sequence

MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIK
GRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLR
FALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPN
HHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIV
RCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA
YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQV
ADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLF
NCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIR
WNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ
THF

Sequence length

603

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the plasma membrane Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome membrane

719

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Centronuclear myopathy	Pathogenic; Likely pathogenic	rs587783832, rs587783838, rs587783841, rs587783771, rs587783772, rs587783781, rs587783752, rs132630304, rs587783791, rs397518445, rs132630306, rs781933660, rs398123274	RCV004586570 RCV004586571 RCV004732467 RCV004017420 RCV004586569 RCV005252768 RCV000583249 RCV004732460 RCV004732461 RCV004585996 RCV004732462 RCV005253015 RCV005430484
Congenital myopathy with fiber type disproportion	Likely pathogenic; Pathogenic	rs587783772	RCV004586568
Generalized hypotonia	Pathogenic	rs2148511870	RCV001526665
MTM1-related disorder	Pathogenic; Likely pathogenic	rs587783791, rs397518445, rs1603184989	RCV003335026 RCV004739300 RCV004545633
Neurodevelopmental disorder	Pathogenic	rs587783771	RCV003389044
Nonpapillary renal cell carcinoma	Pathogenic	rs587783843, rs587783758, rs587783779	RCV005888161 RCV005888158 RCV005888159
Ovarian serous cystadenocarcinoma	Pathogenic	rs587783751	RCV005897400
Qualitative or quantitative defects of myotubularin	Pathogenic	rs781933660	RCV002529856
Severe X-linked myotubular myopathy	Likely pathogenic; Pathogenic	rs2040150416, rs2148510791, rs147644722, rs2148511944, rs2148511970, rs868972342, rs587783843, rs2148461695, rs2148456062, rs2148488506, rs2148493304, rs2148497926, rs2148488410, rs2522253962, rs2148456078 View all (188 more)	RCV001329126 RCV001379511 RCV001384319 RCV001388878 RCV001388363 RCV001384969 RCV001733828 RCV002038733 RCV001872566 RCV001975126 RCV001864577 RCV001949418 RCV001914795 RCV002281652 RCV002262179 RCV002273036 RCV000146442 RCV000146448 RCV000146468 RCV000146469 RCV000146472 RCV000146484 RCV000146374 RCV000146410 RCV000146419 RCV000146427 RCV000146428 RCV000146433 RCV000146434 RCV000146435 RCV000146436 RCV000146439 RCV000146438 RCV000146437 RCV000146440 RCV000146441 RCV000146444 RCV000146445 RCV000146446 RCV000146447 RCV000146449 RCV000146450 RCV000146451 RCV000146452 RCV000146453 RCV000146455 RCV000146456 RCV000146457 RCV000146458 RCV000146459 RCV000146460 RCV000146461 RCV000146463 RCV000146464 RCV000146465 RCV000146466 RCV000146473 RCV000146474 RCV000146475 RCV000146476 RCV000146477 RCV000146480 RCV000146481 RCV000146482 RCV000146483 RCV000146485 RCV000146486 RCV000146487 RCV000146489 RCV000146490 RCV000146491 RCV000146492 RCV000146371 RCV000146372 RCV000146373 RCV000146375 RCV000146376 RCV000146377 RCV000146378 RCV000146379 RCV000146380 RCV000146381 RCV000146382 RCV000146383 RCV000146384 RCV000146385 RCV000146387 RCV000146389 RCV000146391 RCV000146392 RCV000146393 RCV000146394 RCV000146395 RCV000146396 RCV000146397 RCV000146398 RCV000146399 RCV000146402 RCV000146400 RCV000146401 RCV000146403 RCV000146406 RCV000146407 RCV000146408 RCV000146409 RCV000146414 RCV000146415 RCV000146416 RCV000146417 RCV000146420 RCV000146421 RCV000146422 RCV000146423 RCV000146426 RCV000146429 RCV000146432 RCV002289425 RCV002290209 RCV002306487 RCV002306552 RCV002306558 RCV002306567 RCV002306596 RCV002309649 RCV002309889 RCV002307949 RCV002308014 RCV002308372 RCV002309311 RCV002309515 RCV002306880 RCV002307199 RCV002310443 RCV002470596 RCV003050663 RCV003050665 RCV003050666 RCV002716544 RCV002856710 RCV002881504 RCV000194336 RCV000194745 RCV000195024 RCV000192943 RCV000195004 RCV000193231 RCV000194416 RCV000195241 RCV000193112 RCV000192362 RCV000193627 RCV000194855 RCV000192715 RCV000193932 RCV000192959 RCV003020017 RCV005622224 RCV003224768 RCV003225693 RCV005090298 RCV000011802 RCV000011803 RCV000011804 RCV000011805 RCV000011806 RCV000011807 RCV000011808 RCV000011809 RCV000011810 RCV000011811 RCV003314500 RCV003405151 RCV003461978 RCV003461979 RCV003508888 RCV003507053 RCV003618543 RCV003617304 RCV003619150 RCV004566462 RCV004557279 RCV004576277 RCV004595201 RCV000408634 RCV000500214 RCV000503395 RCV000499983 RCV000809205 RCV000636898 RCV000700810 RCV000781957 RCV000781956 RCV000781954 RCV000804174 RCV000990966 RCV000990967 RCV001056079 RCV001042735 RCV001044086 RCV001196503 RCV001196667 RCV001221821 RCV001210021 RCV001244848 RCV001239440 RCV001264141 RCV001264142 RCV001264143 RCV001264263 RCV001264264 RCV001264265 RCV001264266 RCV001264267 RCV002514377 RCV000146479 RCV000264401
Spastic paraplegia	Likely pathogenic; Pathogenic	rs587783772	RCV001257576
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs587783858, rs950958823, rs1569565525	RCV005888162 RCV005927716 RCV005901718

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant centronuclear myopathy	Uncertain significance	rs1569565536	RCV000785044
Colorectal cancer	Conflicting classifications of pathogenicity	rs150430628	RCV005898709
Familial Mediterranean fever, autosomal dominant	Conflicting classifications of pathogenicity	rs587783845	RCV005862997
Gastric cancer	Likely benign	rs144266984	RCV005904309
Germ cell tumor of testis	Benign; Likely benign	rs222410	RCV005886173
Lung cancer	Likely benign	rs144266984	RCV005904310
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Likely benign	rs150430628, rs144266984	RCV005898707 RCV005904307
Ovarian cancer	Likely benign	rs144266984	RCV005904308
See cases	Uncertain significance	rs2148425592	RCV002252812

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenoleukodystrophy	Associate	7726166
Cerebral Hemorrhage	Stimulate	33148146
Cerebral Palsy	Stimulate	33148146
Charcot Marie Tooth disease Type 4B1	Associate	12687498, 14690594
Craniometaphyseal Dysplasia Autosomal Dominant	Associate	31541013
Death	Associate	25428687
Dental Caries	Associate	27811984, 28958656, 30667593
Genetic Diseases Inborn	Associate	9829274
Glioblastoma	Associate	25502460
Infant Newborn Diseases	Associate	21478156
Job Syndrome	Associate	27811984
Mastocytosis Systemic	Associate	27811984, 30667593
Mucopolysaccharidosis II	Associate	7726166
Muscle Hypotonia	Associate	27017278, 27353517, 36989620
Muscle Neoplasms	Associate	30884204
Muscle Weakness	Associate	31541013, 36989620
Muscular Atrophy	Associate	21478156
Muscular Diseases	Associate	20817456, 23975875, 31541013
Myopathies Structural Congenital	Associate	10900271, 12646134, 12687498, 14690594, 16288675, 17537630, 19129059, 1972196, 20817456, 20839240, 21478156, 21482111, 21488203, 22258523, 22968136 View all (23 more)
Myopathies Structural Congenital	Inhibit	33843254
Neuromuscular Diseases	Associate	14690594, 26578207
Neutropenia	Associate	20817456
Ovarian Neoplasms	Associate	35177076
Periapical Periodontitis	Associate	33170373
Peripheral Nervous System Diseases	Associate	12687498
Polycystic Ovary Syndrome	Associate	35177076
Pulpitis	Associate	33170373
Respiratory Insufficiency	Associate	27017278, 30047259, 36989620, 37364426
Simpson Golabi Behmel syndrome	Associate	38136996
Small Fiber Neuropathy	Associate	20817456
Tooth Injuries	Stimulate	33170373

MTM1 (myotubularin 1)