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	8898
Gene name	Myotubularin related protein 2
Gene symbol	MTMR2
Synonyms (NCBI Gene)	CMT4BCMT4B1
Chromosome	11
Chromosome location	11q21
Summary	This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a ca

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434402	G>A	Pathogenic	Coding sequence variant, stop gained
rs121434403	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121434404	G>A	Pathogenic	Coding sequence variant, stop gained
rs146572467	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200083635	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs371925152	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs757563721	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs769429967	TT>-,TTT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs776757548	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs863224516	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1171462240	G>A	Pathogenic	Coding sequence variant, stop gained
rs1358449243	CA>-	Pathogenic	Stop gained, coding sequence variant
rs1555057316	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs1555060024	C>T	Pathogenic	Coding sequence variant, stop gained
rs1555060614	C>T	Likely-pathogenic	Splice donor variant
rs1555061026	A>C	Likely-pathogenic	Splice donor variant
rs1565342506	G>A	Pathogenic	Coding sequence variant, stop gained
rs1565351898	C>G	Likely-pathogenic	Splice donor variant
rs1590971080	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1590974546	C>T	Pathogenic	Splice donor variant
rs1590974596	GTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590997023	GTTTC>-	Pathogenic	Coding sequence variant, frameshift variant

262

Show/Hide all (262)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047348	hsa-miR-34a-5p	CLASH	23622248
MIRT1163895	hsa-miR-105	CLIP-seq
MIRT1163896	hsa-miR-1261	CLIP-seq
MIRT1163897	hsa-miR-146b-3p	CLIP-seq
MIRT1163898	hsa-miR-21	CLIP-seq
MIRT1163899	hsa-miR-3201	CLIP-seq
MIRT1163900	hsa-miR-323b-3p	CLIP-seq
MIRT1163901	hsa-miR-376a	CLIP-seq
MIRT1163902	hsa-miR-376b	CLIP-seq
MIRT1163903	hsa-miR-3913-3p	CLIP-seq
MIRT1163904	hsa-miR-4494	CLIP-seq
MIRT1163905	hsa-miR-4671-5p	CLIP-seq
MIRT1163906	hsa-miR-4691-5p	CLIP-seq
MIRT1163907	hsa-miR-4742-3p	CLIP-seq
MIRT1163908	hsa-miR-4768-5p	CLIP-seq
MIRT1163909	hsa-miR-4791	CLIP-seq
MIRT1163910	hsa-miR-4799-5p	CLIP-seq
MIRT1163911	hsa-miR-499a-5p	CLIP-seq
MIRT1163912	hsa-miR-590-5p	CLIP-seq
MIRT1163913	hsa-miR-759	CLIP-seq
MIRT1163914	hsa-miR-223	CLIP-seq
MIRT1163915	hsa-miR-3673	CLIP-seq
MIRT1163916	hsa-miR-548n	CLIP-seq
MIRT1163917	hsa-miR-548t	CLIP-seq
MIRT1163918	hsa-miR-561	CLIP-seq
MIRT1921488	hsa-miR-1470	CLIP-seq
MIRT1921489	hsa-miR-188-3p	CLIP-seq
MIRT1921490	hsa-miR-4469	CLIP-seq
MIRT1921491	hsa-miR-4667-3p	CLIP-seq
MIRT1163906	hsa-miR-4691-5p	CLIP-seq
MIRT1921492	hsa-miR-532-3p	CLIP-seq
MIRT2047164	hsa-miR-3682-5p	CLIP-seq
MIRT2047165	hsa-miR-582-5p	CLIP-seq
MIRT2047166	hsa-miR-106a	CLIP-seq
MIRT2047167	hsa-miR-106b	CLIP-seq
MIRT2047168	hsa-miR-134	CLIP-seq
MIRT2047169	hsa-miR-142-5p	CLIP-seq
MIRT2047170	hsa-miR-17	CLIP-seq
MIRT2047171	hsa-miR-20a	CLIP-seq
MIRT2047172	hsa-miR-20b	CLIP-seq
MIRT2047173	hsa-miR-3118	CLIP-seq
MIRT2047174	hsa-miR-3136-5p	CLIP-seq
MIRT2047175	hsa-miR-3609	CLIP-seq
MIRT2047176	hsa-miR-4439	CLIP-seq
MIRT2047177	hsa-miR-4513	CLIP-seq
MIRT2047178	hsa-miR-4539	CLIP-seq
MIRT2047179	hsa-miR-4724-5p	CLIP-seq
MIRT1163908	hsa-miR-4768-5p	CLIP-seq
MIRT2047180	hsa-miR-4796-3p	CLIP-seq
MIRT2047181	hsa-miR-519d	CLIP-seq
MIRT2047182	hsa-miR-548ah	CLIP-seq
MIRT2047183	hsa-miR-93	CLIP-seq
MIRT2276188	hsa-miR-101	CLIP-seq
MIRT2276189	hsa-miR-135a	CLIP-seq
MIRT2276190	hsa-miR-135b	CLIP-seq
MIRT2276191	hsa-miR-144	CLIP-seq
MIRT2276192	hsa-miR-1910	CLIP-seq
MIRT2276193	hsa-miR-3121-5p	CLIP-seq
MIRT2276194	hsa-miR-323-3p	CLIP-seq
MIRT2276195	hsa-miR-3545-3p	CLIP-seq
MIRT2047175	hsa-miR-3609	CLIP-seq
MIRT2276196	hsa-miR-3616-5p	CLIP-seq
MIRT2276197	hsa-miR-3647-5p	CLIP-seq
MIRT2047164	hsa-miR-3682-5p	CLIP-seq
MIRT1163901	hsa-miR-376a	CLIP-seq
MIRT1163902	hsa-miR-376b	CLIP-seq
MIRT2276198	hsa-miR-4282	CLIP-seq
MIRT2276199	hsa-miR-4448	CLIP-seq
MIRT2047178	hsa-miR-4539	CLIP-seq
MIRT2276200	hsa-miR-4680-5p	CLIP-seq
MIRT2047179	hsa-miR-4724-5p	CLIP-seq
MIRT2276201	hsa-miR-4749-3p	CLIP-seq
MIRT2047180	hsa-miR-4796-3p	CLIP-seq
MIRT1163910	hsa-miR-4799-5p	CLIP-seq
MIRT2047182	hsa-miR-548ah	CLIP-seq
MIRT2276202	hsa-miR-556-3p	CLIP-seq
MIRT2276203	hsa-miR-573	CLIP-seq
MIRT2047165	hsa-miR-582-5p	CLIP-seq
MIRT2276204	hsa-miR-600	CLIP-seq
MIRT2276205	hsa-miR-665	CLIP-seq
MIRT2276206	hsa-miR-889	CLIP-seq
MIRT1163895	hsa-miR-105	CLIP-seq
MIRT2575057	hsa-miR-1179	CLIP-seq
MIRT2575058	hsa-miR-1183	CLIP-seq
MIRT2575059	hsa-miR-1184	CLIP-seq
MIRT2575060	hsa-miR-1205	CLIP-seq
MIRT2575061	hsa-miR-1263	CLIP-seq
MIRT2575062	hsa-miR-128	CLIP-seq
MIRT2575063	hsa-miR-139-5p	CLIP-seq
MIRT2575064	hsa-miR-1587	CLIP-seq
MIRT2575065	hsa-miR-1827	CLIP-seq
MIRT2575066	hsa-miR-194	CLIP-seq
MIRT2575067	hsa-miR-199a-5p	CLIP-seq
MIRT2575068	hsa-miR-199b-5p	CLIP-seq
MIRT2575069	hsa-miR-22	CLIP-seq
MIRT2575070	hsa-miR-221	CLIP-seq
MIRT2575071	hsa-miR-222	CLIP-seq
MIRT2575072	hsa-miR-29a	CLIP-seq
MIRT2575073	hsa-miR-29b	CLIP-seq
MIRT2575074	hsa-miR-29c	CLIP-seq
MIRT2575075	hsa-miR-3064-3p	CLIP-seq
MIRT2575076	hsa-miR-3065-3p	CLIP-seq
MIRT2575077	hsa-miR-3130-3p	CLIP-seq
MIRT2575078	hsa-miR-3136-3p	CLIP-seq
MIRT2575079	hsa-miR-3150a-3p	CLIP-seq
MIRT2575080	hsa-miR-3152-5p	CLIP-seq
MIRT2575081	hsa-miR-3158-5p	CLIP-seq
MIRT2575082	hsa-miR-3168	CLIP-seq
MIRT2575083	hsa-miR-3175	CLIP-seq
MIRT2575084	hsa-miR-3179	CLIP-seq
MIRT2575085	hsa-miR-335	CLIP-seq
MIRT2276195	hsa-miR-3545-3p	CLIP-seq
MIRT2575086	hsa-miR-3611	CLIP-seq
MIRT2575087	hsa-miR-3612	CLIP-seq
MIRT2575088	hsa-miR-3622b-5p	CLIP-seq
MIRT2575089	hsa-miR-3662	CLIP-seq
MIRT2575090	hsa-miR-3663-3p	CLIP-seq
MIRT1163901	hsa-miR-376a	CLIP-seq
MIRT1163902	hsa-miR-376b	CLIP-seq
MIRT2575091	hsa-miR-3908	CLIP-seq
MIRT1163903	hsa-miR-3913-3p	CLIP-seq
MIRT2575092	hsa-miR-3922-5p	CLIP-seq
MIRT2575093	hsa-miR-3942-5p	CLIP-seq
MIRT2575094	hsa-miR-4253	CLIP-seq
MIRT2575095	hsa-miR-4263	CLIP-seq
MIRT2575096	hsa-miR-4276	CLIP-seq
MIRT2575097	hsa-miR-4277	CLIP-seq
MIRT2276198	hsa-miR-4282	CLIP-seq
MIRT2575098	hsa-miR-4302	CLIP-seq
MIRT2575099	hsa-miR-4310	CLIP-seq
MIRT2575100	hsa-miR-4326	CLIP-seq
MIRT2575101	hsa-miR-433	CLIP-seq
MIRT2575102	hsa-miR-4434	CLIP-seq
MIRT2575103	hsa-miR-4490	CLIP-seq
MIRT2575104	hsa-miR-4501	CLIP-seq
MIRT2575105	hsa-miR-4516	CLIP-seq
MIRT2575106	hsa-miR-4531	CLIP-seq
MIRT2575107	hsa-miR-4666-5p	CLIP-seq
MIRT1163905	hsa-miR-4671-5p	CLIP-seq
MIRT2575108	hsa-miR-4674	CLIP-seq
MIRT2276200	hsa-miR-4680-5p	CLIP-seq
MIRT2575109	hsa-miR-4703-5p	CLIP-seq
MIRT2575110	hsa-miR-4761-3p	CLIP-seq
MIRT2575111	hsa-miR-4766-3p	CLIP-seq
MIRT1163908	hsa-miR-4768-5p	CLIP-seq
MIRT2575112	hsa-miR-4774-3p	CLIP-seq
MIRT2575113	hsa-miR-4774-5p	CLIP-seq
MIRT2575114	hsa-miR-4793-3p	CLIP-seq
MIRT2575115	hsa-miR-4793-5p	CLIP-seq
MIRT2047180	hsa-miR-4796-3p	CLIP-seq
MIRT2575116	hsa-miR-4797-5p	CLIP-seq
MIRT1163910	hsa-miR-4799-5p	CLIP-seq
MIRT2575117	hsa-miR-486-5p	CLIP-seq
MIRT2575118	hsa-miR-489	CLIP-seq
MIRT2575119	hsa-miR-491-5p	CLIP-seq
MIRT2575120	hsa-miR-520g	CLIP-seq
MIRT2575121	hsa-miR-520h	CLIP-seq
MIRT2575122	hsa-miR-522	CLIP-seq
MIRT2575123	hsa-miR-548a-3p	CLIP-seq
MIRT2575124	hsa-miR-548ac	CLIP-seq
MIRT2575125	hsa-miR-548d-3p	CLIP-seq
MIRT2575126	hsa-miR-548e	CLIP-seq
MIRT2575127	hsa-miR-548f	CLIP-seq
MIRT1163916	hsa-miR-548n	CLIP-seq
MIRT1163917	hsa-miR-548t	CLIP-seq
MIRT2575128	hsa-miR-548v	CLIP-seq
MIRT2575129	hsa-miR-548z	CLIP-seq
MIRT2276202	hsa-miR-556-3p	CLIP-seq
MIRT2575130	hsa-miR-558	CLIP-seq
MIRT2575131	hsa-miR-570	CLIP-seq
MIRT2575132	hsa-miR-576-5p	CLIP-seq
MIRT2047165	hsa-miR-582-5p	CLIP-seq
MIRT2575133	hsa-miR-633	CLIP-seq
MIRT2575134	hsa-miR-634	CLIP-seq
MIRT2575135	hsa-miR-650	CLIP-seq
MIRT1163913	hsa-miR-759	CLIP-seq
MIRT2276206	hsa-miR-889	CLIP-seq
MIRT2575136	hsa-miR-922	CLIP-seq
MIRT2575137	hsa-miR-939	CLIP-seq
MIRT2575138	hsa-miR-940	CLIP-seq
MIRT1163910	hsa-miR-4799-5p	CLIP-seq
MIRT1163895	hsa-miR-105	CLIP-seq
MIRT2575058	hsa-miR-1183	CLIP-seq
MIRT2575059	hsa-miR-1184	CLIP-seq
MIRT2575060	hsa-miR-1205	CLIP-seq
MIRT2575062	hsa-miR-128	CLIP-seq
MIRT2575063	hsa-miR-139-5p	CLIP-seq
MIRT2575064	hsa-miR-1587	CLIP-seq
MIRT2575065	hsa-miR-1827	CLIP-seq
MIRT2575067	hsa-miR-199a-5p	CLIP-seq
MIRT2575068	hsa-miR-199b-5p	CLIP-seq
MIRT2575069	hsa-miR-22	CLIP-seq
MIRT2575070	hsa-miR-221	CLIP-seq
MIRT2575071	hsa-miR-222	CLIP-seq
MIRT2575075	hsa-miR-3064-3p	CLIP-seq
MIRT2575077	hsa-miR-3130-3p	CLIP-seq
MIRT2575078	hsa-miR-3136-3p	CLIP-seq
MIRT2575079	hsa-miR-3150a-3p	CLIP-seq
MIRT2575081	hsa-miR-3158-5p	CLIP-seq
MIRT2575082	hsa-miR-3168	CLIP-seq
MIRT2575083	hsa-miR-3175	CLIP-seq
MIRT2575084	hsa-miR-3179	CLIP-seq
MIRT2575085	hsa-miR-335	CLIP-seq
MIRT2575086	hsa-miR-3611	CLIP-seq
MIRT2575087	hsa-miR-3612	CLIP-seq
MIRT2575088	hsa-miR-3622b-5p	CLIP-seq
MIRT2575089	hsa-miR-3662	CLIP-seq
MIRT2575090	hsa-miR-3663-3p	CLIP-seq
MIRT1163901	hsa-miR-376a	CLIP-seq
MIRT1163902	hsa-miR-376b	CLIP-seq
MIRT2575091	hsa-miR-3908	CLIP-seq
MIRT1163903	hsa-miR-3913-3p	CLIP-seq
MIRT2575092	hsa-miR-3922-5p	CLIP-seq
MIRT2575093	hsa-miR-3942-5p	CLIP-seq
MIRT2575094	hsa-miR-4253	CLIP-seq
MIRT2575095	hsa-miR-4263	CLIP-seq
MIRT2575096	hsa-miR-4276	CLIP-seq
MIRT2575097	hsa-miR-4277	CLIP-seq
MIRT2575098	hsa-miR-4302	CLIP-seq
MIRT2575100	hsa-miR-4326	CLIP-seq
MIRT2575101	hsa-miR-433	CLIP-seq
MIRT2575102	hsa-miR-4434	CLIP-seq
MIRT2575103	hsa-miR-4490	CLIP-seq
MIRT2575104	hsa-miR-4501	CLIP-seq
MIRT2575105	hsa-miR-4516	CLIP-seq
MIRT2575106	hsa-miR-4531	CLIP-seq
MIRT2575107	hsa-miR-4666-5p	CLIP-seq
MIRT1163905	hsa-miR-4671-5p	CLIP-seq
MIRT2575108	hsa-miR-4674	CLIP-seq
MIRT2575109	hsa-miR-4703-5p	CLIP-seq
MIRT2575110	hsa-miR-4761-3p	CLIP-seq
MIRT2575111	hsa-miR-4766-3p	CLIP-seq
MIRT1163908	hsa-miR-4768-5p	CLIP-seq
MIRT2575113	hsa-miR-4774-5p	CLIP-seq
MIRT2575114	hsa-miR-4793-3p	CLIP-seq
MIRT2575115	hsa-miR-4793-5p	CLIP-seq
MIRT2047180	hsa-miR-4796-3p	CLIP-seq
MIRT2575116	hsa-miR-4797-5p	CLIP-seq
MIRT1163910	hsa-miR-4799-5p	CLIP-seq
MIRT2575118	hsa-miR-489	CLIP-seq
MIRT2575119	hsa-miR-491-5p	CLIP-seq
MIRT2575120	hsa-miR-520g	CLIP-seq
MIRT2575121	hsa-miR-520h	CLIP-seq
MIRT2575122	hsa-miR-522	CLIP-seq
MIRT2575123	hsa-miR-548a-3p	CLIP-seq
MIRT2575124	hsa-miR-548ac	CLIP-seq
MIRT2575125	hsa-miR-548d-3p	CLIP-seq
MIRT2575126	hsa-miR-548e	CLIP-seq
MIRT2575127	hsa-miR-548f	CLIP-seq
MIRT2575128	hsa-miR-548v	CLIP-seq
MIRT2575129	hsa-miR-548z	CLIP-seq
MIRT2276202	hsa-miR-556-3p	CLIP-seq
MIRT2575130	hsa-miR-558	CLIP-seq
MIRT2575131	hsa-miR-570	CLIP-seq
MIRT2575132	hsa-miR-576-5p	CLIP-seq
MIRT2047165	hsa-miR-582-5p	CLIP-seq
MIRT2575135	hsa-miR-650	CLIP-seq
MIRT1163913	hsa-miR-759	CLIP-seq
MIRT2276206	hsa-miR-889	CLIP-seq
MIRT2575137	hsa-miR-939	CLIP-seq
MIRT2575138	hsa-miR-940	CLIP-seq
MIRT1163910	hsa-miR-4799-5p	CLIP-seq

Show/Hide all (66)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002091	Process	Negative regulation of receptor internalization	IEA
GO:0002091	Process	Negative regulation of receptor internalization	ISS
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IBA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IDA	11302699, 12668758, 14690594
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	TAS
GO:0005515	Function	Protein binding	IPI	12837694, 12847286, 15998640, 27880917, 35271311
GO:0005634	Component	Nucleus	IDA	12837694, 16787938
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12837694
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005774	Component	Vacuolar membrane	IEA
GO:0005829	Component	Cytosol	IDA	12668758
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0010008	Component	Endosome membrane	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031642	Process	Negative regulation of myelination	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032288	Process	Myelin assembly	IEA
GO:0042552	Process	Myelination	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0045806	Process	Negative regulation of endocytosis	IEA
GO:0045806	Process	Negative regulation of endocytosis	ISS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	12668758
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048666	Process	Neuron development	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	12668758, 14690594
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS
GO:0052866	Function	Phosphatidylinositol phosphate phosphatase activity	IEA
GO:0060304	Process	Regulation of phosphatidylinositol dephosphorylation	IDA	16787938
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	ISS
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097062	Process	Dendritic spine maintenance	IEA
GO:0097062	Process	Dendritic spine maintenance	ISS
GO:2000643	Process	Positive regulation of early endosome to late endosome transport	IEA
GO:2000643	Process	Positive regulation of early endosome to late endosome transport	ISS
GO:2000645	Process	Negative regulation of receptor catabolic process	IEA
GO:2000645	Process	Negative regulation of receptor catabolic process	ISS

MIM	HGNC	e!Ensembl
603557	7450	ENSG00000087053

Q13614

Protein name

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 (EC 3.1.3.95) (Myotubularin-related protein 2) (Phosphatidylinositol-3-phosphate phosphatase)

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:11733541, PubMed:12

PDB

1LW3 , 1M7R , 1ZSQ , 1ZVR , 5GNH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02893	GRAM	68 → 185	GRAM domain	Domain
PF06602	Myotub-related	192 → 529	Myotubularin-like phosphatase domain	Domain

Sequence

MEKSSSCESLGSQPAAARPPSVDSLSSASTSHSENSVHTKSASVVSSDSISTSADNFSPD
LRVLRESNKLAEMEEPPLLPGENIKDMAKDVTYICPFTGAVRGTLTVTNYRLYFKSMERD
PPFVLDASLGVINRVEKIGGASSRGENSYGLETVCKDIRNLRFAHKPEGRTRRSIFENLM
KYAFPVSNNLPLFAFEYKEVFPENGWKLYDPLLEYRRQGIPNESWRITKINERYELCDTY
PALLVVPANIPDEELKRVASFRSRGRIPVLSWIHPESQATITRCSQPMVGVSGKRSKEDE
KYLQAIMDSNAQSHKIFIFDARPSVNAVANKAKGGGYESEDAYQNAELVFLDIHNIHVMR
ESLRKLKEIVYPNIEETHWLSNLESTHWLEHIKLILAGALRIADKVESGKTSVVVHCSDG
WDRTAQLTSLAMLMLDGYYRTIRGFEVLVEKEWLSFGHRFQLRVGHGDKNHADADRSPVF
LQFIDCVWQMTRQFPTAFEFNEYFLITILDHLYSCLFGTFLCNSEQQRGKENLPKRTVSL
WSYINSQLEDFTNPLYGSYSNHVLYPVASMRHLELWVGYYIRWNPRMKPQEPIHNRYKEL
LAKRAELQKKVEELQREISNRSTSSSERASSPAQCVTPVQTVV

Sequence length

643

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the ER membrane Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome 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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs1590968942, rs1590970875	RCV000790132 RCV000789670	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Likely pathogenic; Pathogenic	rs770852495, rs758637255, rs751677491, rs2496570033, rs2496500008, rs121434402, rs863224516, rs757563721, rs2496561076, rs2496499778, rs1867034667, rs1555057316, rs1555060614, rs1555061026, rs1358449243 View all (11 more)	RCV001377269 RCV001383095 RCV001381183 RCV002616404 RCV002907740 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B1	Pathogenic; Likely pathogenic	rs115506357, rs2496570033, rs121434402, rs121434403, rs121434404, rs2496508385, rs2496483164, rs1214822130, rs1555057316, rs1555061026, rs1358449243, rs1555060024, rs1565342506, rs1590970875, rs1590971080 View all (6 more)	RCV002467477 RCV005254712 RCV000006609 RCV000006611 RCV000006612 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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
CANNABIS DEPENDENCE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B1	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMYELINATING HEREDITARY MOTOR AND SENSORY NEUROPATHY	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MTMR2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35560794, 37907649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	11733541, 14690594, 28934386, 29408998, 30894500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	10586229, 10802647, 11354824, 11835375, 11867209, 12398840, 14690594, 17973976, 18429927, 21741241, 22028665, 23297362, 23962696, 27155155, 28190646 View all (5 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	15998640		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG	10802647		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	BEFREE	22028665, 23749797		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4B1	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	10802647, 28509084		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	UNIPROT_DG	10802647, 12398840		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	BEFREE	11354824, 11733541, 12687498, 14530412, 15998640, 23297362, 27466180, 28509084, 29408998, 9887383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4B2	Charcot-Marie-Tooth Disease	BEFREE	30419760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	BEFREE	25388615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	BEFREE	31680794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	BEFREE	11733541, 14690594, 28934386, 29408998, 30894500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	12646134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	15304601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	10586229, 8817346, 9521281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	21840889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31113461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31113461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28934386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15193142, 17827710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11733541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	21372139, 32154989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	11335693, 11354824, 11596785, 14530412, 22028665, 27155155, 28190646, 28934386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	10586229, 11335693, 23297362, 23962696, 28190646, 30419760, 8817346, 9521281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12687498, 18429927, 28934386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	12687498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12687498, 28934386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	21741241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	28489605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31113461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31113461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	28190646		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	12687498, 27155155, 28934386, 29408998		★★★★★ ★☆☆☆☆ Found in Text Mining only

MTMR2 (myotubularin related protein 2)