MTMR6 - myotubularin related protein 6 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9107

About MTMR6

Cytogenetic location: 13q12.13 Genomic coordinates (GRCh38): 13:25,246,222-25,287,488 (from NCBI)

This gene has 2 transcripts (splice variants), 225 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues.

Summary

Enables phosphatidylinositol-3,5-bisphosphate Phosphatase activity and phosphatidylinositol-3-phosphatase activity. Involved in phosphatidylinositol dephosphorylation. Located in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]

MTMR6 Products (10)

mRNA	Protein	Name
NM_001385230.1	NP_001372159.1	myotubularin-related protein 6 isoform 2
NM_001385231.1	NP_001372160.1	myotubularin-related protein 6 isoform 3
NM_001385232.1	NP_001372161.1	myotubularin-related protein 6 isoform 4
NM_001385233.1	NP_001372162.1	myotubularin-related protein 6 isoform 5
NM_001385234.1	NP_001372163.1	myotubularin-related protein 6 isoform 6
NM_001385235.1	NP_001372164.1	myotubularin-related protein 6 isoform 7
NM_001385236.1	NP_001372165.1	myotubularin-related protein 6 isoform 8
NM_001385237.1	NP_001372166.1	myotubularin-related protein 6 isoform 9
NM_001385238.1	NP_001372167.1	myotubularin-related protein 6 isoform 10
NM_004685.5	NP_004676.3	myotubularin-related protein 6 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity	IDA IDA: Inferred from direct assay	22647598	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA IDA: Inferred from direct assay	22647598	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16787938	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	22647598	GOA

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

MTMR6 Protein Structure

Myotub-related

0
100
200
300
400
500
621 a.a.

Protein Preferred Names	Protein Names
myotubularin-related protein 6	phosphatidylinositol-3,5-bisphosphate 3-phosphatase

MTMR6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTMR6	Q9Y217	NMI	Homo sapiens	Q13287	Y2H Array	25416956
Intra	MTMR6	Q9Y217	NMI	Homo sapiens	Q13287	Y2H Prey Pooling	25416956
Intra	MTMR6	Q9Y217	MTUS2	Homo sapiens	Q5JR59	Y2H Array	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Y2H Array	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Y2H	21516116
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	27880917
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Validated Y2H	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	BioID	27880917

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Rh Deficiency Syndrome Rh Disease HDFNRH Rh Fetomaternal Incompatibility Rh-Null Syndrome
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

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-RS08792	MTMR6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MTMR6	VGNC	VGNC:31744
Canis familiaris	MTMR6	VGNC	VGNC:43486
Macaca mulatta	MTMR6	VGNC	VGNC:75075
Felis catus	MTMR6	VGNC	VGNC:68349
Rattus norvegicus	MTMR6	RGD	RGD:1305378
Mus musculus	MTMR6	MGD	MGI:2145637
Others	MTMR6	NCBI