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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9108
Gene name	Myotubularin related protein 7
Gene symbol	MTMR7
Synonyms (NCBI Gene)	-
Chromosome	8
Chromosome location	8p22
Summary	This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-li

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miRTarBase ID	miRNA	Experiments	Reference
MIRT715488	hsa-miR-409-3p	HITS-CLIP	19536157
MIRT715487	hsa-miR-4768-3p	HITS-CLIP	19536157
MIRT715486	hsa-miR-665	HITS-CLIP	19536157
MIRT715485	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT715484	hsa-miR-3977	HITS-CLIP	19536157
MIRT715488	hsa-miR-409-3p	HITS-CLIP	19536157
MIRT715487	hsa-miR-4768-3p	HITS-CLIP	19536157
MIRT715486	hsa-miR-665	HITS-CLIP	19536157
MIRT715485	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT715484	hsa-miR-3977	HITS-CLIP	19536157
MIRT1164291	hsa-miR-135a	CLIP-seq
MIRT1164292	hsa-miR-135b	CLIP-seq
MIRT1164293	hsa-miR-3129-3p	CLIP-seq
MIRT1164294	hsa-miR-3157-3p	CLIP-seq
MIRT1164295	hsa-miR-3160-5p	CLIP-seq
MIRT1164296	hsa-miR-425	CLIP-seq
MIRT1164297	hsa-miR-4290	CLIP-seq
MIRT1164298	hsa-miR-4655-3p	CLIP-seq
MIRT1164299	hsa-miR-4659a-3p	CLIP-seq
MIRT1164300	hsa-miR-4659b-3p	CLIP-seq
MIRT1164301	hsa-miR-4662a-3p	CLIP-seq
MIRT1164302	hsa-miR-578	CLIP-seq
MIRT1164303	hsa-miR-874	CLIP-seq
MIRT2047405	hsa-miR-194	CLIP-seq
MIRT2047406	hsa-miR-203	CLIP-seq
MIRT2047407	hsa-miR-3607-5p	CLIP-seq
MIRT2047408	hsa-miR-3646	CLIP-seq
MIRT2047409	hsa-miR-3662	CLIP-seq
MIRT2047410	hsa-miR-3944-5p	CLIP-seq
MIRT2047411	hsa-miR-4652-3p	CLIP-seq
MIRT2047412	hsa-miR-4698	CLIP-seq
MIRT2047413	hsa-miR-4731-5p	CLIP-seq
MIRT2047414	hsa-miR-4775	CLIP-seq
MIRT2047415	hsa-miR-495	CLIP-seq
MIRT2047416	hsa-miR-590-3p	CLIP-seq
MIRT2276318	hsa-miR-103b	CLIP-seq
MIRT2047406	hsa-miR-203	CLIP-seq
MIRT2276319	hsa-miR-204	CLIP-seq
MIRT2276320	hsa-miR-211	CLIP-seq
MIRT2276321	hsa-miR-22	CLIP-seq
MIRT2047407	hsa-miR-3607-5p	CLIP-seq
MIRT2047408	hsa-miR-3646	CLIP-seq
MIRT2276322	hsa-miR-376a	CLIP-seq
MIRT2276323	hsa-miR-376b	CLIP-seq
MIRT2276324	hsa-miR-3924	CLIP-seq
MIRT1164296	hsa-miR-425	CLIP-seq
MIRT1164301	hsa-miR-4662a-3p	CLIP-seq
MIRT2276325	hsa-miR-548a-5p	CLIP-seq
MIRT2276326	hsa-miR-548ab	CLIP-seq
MIRT2276327	hsa-miR-548ak	CLIP-seq
MIRT2276328	hsa-miR-548b-5p	CLIP-seq
MIRT2276329	hsa-miR-548c-5p	CLIP-seq
MIRT2276330	hsa-miR-548d-5p	CLIP-seq
MIRT2276331	hsa-miR-548h	CLIP-seq
MIRT2276332	hsa-miR-548i	CLIP-seq
MIRT2276333	hsa-miR-548j	CLIP-seq
MIRT2276334	hsa-miR-548k	CLIP-seq
MIRT2276335	hsa-miR-548l	CLIP-seq
MIRT2276336	hsa-miR-548w	CLIP-seq
MIRT2276337	hsa-miR-548y	CLIP-seq
MIRT2276338	hsa-miR-559	CLIP-seq
MIRT2276339	hsa-miR-561	CLIP-seq
MIRT1164296	hsa-miR-425	CLIP-seq
MIRT2454567	hsa-miR-1229	CLIP-seq
MIRT2454568	hsa-miR-1252	CLIP-seq
MIRT2454569	hsa-miR-455-5p	CLIP-seq
MIRT2454570	hsa-miR-4720-3p	CLIP-seq
MIRT2454571	hsa-miR-4789-3p	CLIP-seq
MIRT2454572	hsa-miR-4804-3p	CLIP-seq
MIRT2454573	hsa-miR-550a	CLIP-seq
MIRT2454574	hsa-miR-642b	CLIP-seq
MIRT2047406	hsa-miR-203	CLIP-seq
MIRT2575182	hsa-miR-3174	CLIP-seq
MIRT2575183	hsa-miR-33a	CLIP-seq
MIRT2575184	hsa-miR-33b	CLIP-seq
MIRT2047407	hsa-miR-3607-5p	CLIP-seq
MIRT2575185	hsa-miR-3611	CLIP-seq
MIRT2575186	hsa-miR-3616-5p	CLIP-seq
MIRT2047408	hsa-miR-3646	CLIP-seq
MIRT2575187	hsa-miR-3647-5p	CLIP-seq
MIRT2047409	hsa-miR-3662	CLIP-seq
MIRT2575188	hsa-miR-4795-5p	CLIP-seq
MIRT2575189	hsa-miR-573	CLIP-seq
MIRT2575190	hsa-miR-656	CLIP-seq
MIRT2047406	hsa-miR-203	CLIP-seq
MIRT2685503	hsa-miR-3148	CLIP-seq
MIRT2575182	hsa-miR-3174	CLIP-seq
MIRT2575183	hsa-miR-33a	CLIP-seq
MIRT2575184	hsa-miR-33b	CLIP-seq
MIRT2047407	hsa-miR-3607-5p	CLIP-seq
MIRT2575185	hsa-miR-3611	CLIP-seq
MIRT2575186	hsa-miR-3616-5p	CLIP-seq
MIRT2047408	hsa-miR-3646	CLIP-seq
MIRT2575187	hsa-miR-3647-5p	CLIP-seq
MIRT2047409	hsa-miR-3662	CLIP-seq
MIRT2685504	hsa-miR-4266	CLIP-seq
MIRT2685505	hsa-miR-4330	CLIP-seq
MIRT2575188	hsa-miR-4795-5p	CLIP-seq
MIRT2575189	hsa-miR-573	CLIP-seq
MIRT2575190	hsa-miR-656	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IBA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	TAS
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS	9736772
GO:0005515	Function	Protein binding	IPI	25416956, 27880917, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16787938
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006470	Process	Protein dephosphorylation	TAS	9736772
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016312	Function	Inositol bisphosphate phosphatase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
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:0106018	Function	Phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA

MIM	HGNC	e!Ensembl
603562	7454	ENSG00000003987

Q9Y216

Protein name

Phosphatidylinositol-3-phosphate phosphatase MTMR7 (EC 3.1.3.64) (Inositol 1,3-bisphosphate phosphatase) (Myotubularin-related protein 7)

Protein function

Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06602	Myotub-related	109 → 448	Myotubularin-like phosphatase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in brain. {ECO:0000269|PubMed:9736772}.

Sequence

MEHIRTPKVENVRLVDRVSPKKAALGTLYLTATHVIFVENSPDPRKETWILHSQISTIEK
QATTATGCPLLIRCKNFQIIQLIIPQERDCHDVYISLIRLARPVKYEELYCFSFNPMLDK
EEREQGWVLIDLSEEYTRMGLPNHYWQLSDVNRDYRVCDSYPTELYVPKSATAHIIVGSS
KFRSRRRFPVLSYYYKDNHASICRSSQPLSGFSARCLEDEQMLQAIRKANPGSDFVYVVD
TRPKLNAMANRAAGKGYENEDNYSNIKFQFIGIENIHVMRNSLQKMLEVCELKSPSMSDF
LWGLENSGWLRHIKAIMDAGIFIAKAVSEEGASVLVHCSDGWDRTAQVCSVASLLLDPHY
RTLKGFMVLIEKDWISFGHKFNHRYGNLDGDPKEISPVIDQFIECVWQLMEQFPCAFEFN
ERFLIHIQHHIYSCQFGNFLCNSQKERRELKIQERTYSLWAHLWKNRADYLNPLFRADHS
QTQGTLHLPTTPCNFMYKFWSGMYNRFEKGMQPRQSVTDYLMAVKEETQQLEEELEALEE
RLEKIQKVQLNCTKVKSKQSEPSKHSGFSTSDNSIANTPQDYSGNMKSFPSRSPSQGDED
SALILTQDNLKSSDPDLSANSDQESGVEDLSCRSPSGGEHAPSEDSGKDRDSDEAVFLTA

Sequence length

660

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		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 Unknown Diseases (6)

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.
CREUTZFELDT JACOB DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MTMR7-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOCELE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	34941983	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	33757599	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	34941983	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	36232761	★★★★★ ★☆☆☆☆ Found in Text Mining only

MTMR7 (myotubularin related protein 7)