MTM1 (myotubularin 1)

Gene

• Entrez ID: 4534
• Gene name: Myotubularin 1
• Gene symbol: MTM1
• Synonyms (NCBI Gene): CNM, CNMX, MTMX, XLMTM
• Disease Acronyms (UniProt): CNMX
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT755861	hsa-miR-423-5p	Luciferase reporter assay, Western blotting, qRT-PCR, RNA 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IDA	12118066
GO:0004438	Function	Phosphatidylinositol-3-phosphatase activity	IBA	21873635
GO:0004438	Function	Phosphatidylinositol-3-phosphatase activity	IDA	10900271
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	9537414
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	12847286, 21135508, 23917616, 26760201
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	10900271, 12118066, 12217958
GO:0005770	Component	Late endosome	IDA	14722070
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	12118066, 12217958, 12847286
GO:0006470	Process	Protein dephosphorylation	IDA	9537414
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0008333	Process	Endosome to lysosome transport	IDA	14722070
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA	21873635
GO:0019215	Function	Intermediate filament binding	IDA	21135508
GO:0030175	Component	Filopodium	IDA	12118066
GO:0031674	Component	I band	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:0035335	Process	Peptidyl-tyrosine dephosphorylation	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	21873635
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA	21873635
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	10900271, 12646134
GO:0048311	Process	Mitochondrion distribution	IBA	21873635
GO:0048311	Process	Mitochondrion distribution	IMP	21135508
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	IEA
GO:0051898	Process	Negative regulation of protein kinase B signaling	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA	21873635
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	12646134
GO:0070584	Process	Mitochondrion morphogenesis	IBA	21873635
GO:0070584	Process	Mitochondrion morphogenesis	IDA	21135508
GO:1902902	Process	Negative regulation of autophagosome assembly	IBA	21873635

Other IDs

• MIM: 300415
• HGNC: 7448
• e!Ensembl: ENSG00000171100

Protein

• UniProt ID: 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

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Centronuclear myopathy	Centronuclear myopathy, Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Myotubular Myopathy	rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598, rs587783832, rs587783838, rs587783841, rs587783771, rs587783772, rs587783781, rs574660186, rs794729338, rs587783752, rs878854372, rs926741242, rs1293675104, rs768407867, rs773598203, rs1555715869, rs781933660, rs1332371891, rs756870293, rs1568454672, rs1600843056, rs866050664, rs2093158866, rs776252106, rs756847750, rs2070649864	17376685
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, rs2754158, rs727503263, rs797045950, rs886041686, rs1557813850, rs1057518940, rs1060505018, rs1566521710, rs1558081664, rs778603129, rs1475149579	17376685
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
External ophthalmoplegia	External Ophthalmoplegia	rs1569484022
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Myopathy	Myopathy, Myopathy, Centronuclear, Autosomal Dominant, Myopathy, Centronuclear, 1	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	26938784, 17376685
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Microcephaly	Secondary microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
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, 27017278, 30047259, 30884204, 30902907, 32862205, 33164942, 34463354, 34641930, 36142184, 36161941, 36989620, 37176116, 37364426, 37466134, 37673065, 37977713, 38086156, 38136996, 7611280, 7726166, 7891372, 9541111, 9829274
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