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MTMR7 - myotubularin related protein 7 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9108

About MTMR7

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:17,296,794-17,413,351 (from NCBI)

This gene has 9 transcripts (splice variants), 295 orthologues and 13 paralogues. Ubiquitous expression in brain (RPKM 4.2), thyroid (RPKM 1.7) and 24 other tissues.

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-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the Protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]

MTMR7 Products (1)

mRNA	Protein	Name
NM_004686.5	NP_004677.3	myotubularin-related protein 7

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16787938	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTMR7 Protein Structure

Myotub-related

0
200
400
600
660 a.a.

Protein Preferred Names	Protein Names
myotubularin-related protein 7	inositol 1,3-bisphosphate phosphatase

MTMR7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTMR7	Q9Y216	CCNH	Homo sapiens	P51946	Y2H Array	32296183
Intra	MTMR7	Q9Y216	CCNH	Homo sapiens	P51946	Anti Tag CoIP	27880917
Intra	MTMR7	Q9Y216	CCNH	Homo sapiens	P51946	Y2H Prey Pooling	32296183
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Validated Y2H	25416956
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	33961781
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	29892012
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	31515488
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	25416956
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	32296183
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	27880917
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	25416956
Intra	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	CNM6 Centronuclear Myopathy 6 With Fiber-Type Disproportion Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion
Macrocephaly/Autism Syndrome	Macrocephaly-Autism Syndrome Macrocephaly-Intellectual Disability-Autism Syndrome MCEPHAS
Developmental And Epileptic Encephalopathy 53	DEE53 Epileptic Encephalopathy, Early Infantile, 53 Eiee53 Developmental And Epileptic Encephalopathy, 53 Early Infantile Epileptic Encephalopathy 53
Creutzfeldt-Jakob Disease	Variant Creutzfeldt-Jakob Disease CJD Bovine Spongiform Encephalopathy Vcjd Inherited Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Familial Creutzfeldt Jakob Disease Creutzfeldt-Jacob Disease Creutzfeldt Jacob Disease Sporadic Creutzfeldt-Jakob Disease Encephalopathy, Bovine Spongiform Creutzfeldt-Jakob Disease, Variant, Resistance To Creutzfeldt-Jakob Disease, Variant Creutzfeldt Jacob Syndrome Jakob-Creutzfeldt Disease Subacute Spongiform Encephalopathy Transmissible Virus Dementia New Variant Of Cjd Nv-Cjd Variant Cjd Variant Creutzfeldt-Jacob Disease Sporadic Cjd Inherited Cjd Acquired Creutzfeldt-Jakob Disease Variant Mcj Encephalopathy Bovine Spongiform Familial Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Syndrome New Variant Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Sporadic Acquired Cjd Scjd - [Sporadic Creutzfeldt-Jakob Disease] Idiopathic Creutzfeldt-Jakob Disease Creutzfeld-Jakob Disease Nos Vcjd - [Variant Creutzfeldt-Jakob Disease]
Parkinson Disease 20, Early-Onset	Early-Onset Parkinson Disease 20 PARK20 Parkinson'S Disease 20 Early-Onset Parkinson'S Disease 20 Parkinson Disease, Type 20, Early-Onset
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08793	MTMR7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTMR7	MGD	MGI:1891693
Macaca mulatta	MTMR7	VGNC	VGNC:75076
Felis catus	MTMR7	VGNC	VGNC:68350
Rattus norvegicus	MTMR7	RGD	RGD:1306608
Bos taurus	MTMR7	VGNC	VGNC:31745
Canis familiaris	MTMR7	VGNC	VGNC:43487
Others	MTMR7	NCBI