2. Gene
  3. MTMR6 - myotubularin related protein 6 Gene

MTMR6 - myotubularin related protein 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 9107 | Gene type: protein coding

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 Reference 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 Reference Source
involved in phosphatidylinositol dephosphorylation IDA
IDA: Inferred from direct assay
22647598 GOA
Cellular Component GO Annotation Evidence Reference 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

Myotub-related: Myotubularin-like phosphatase domain (106 - 447)

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  • 621 a.a.
Protein Preferred Names Protein Names

myotubularin-related protein 6

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08792 MTMR6 Human Pre-designed siRNA Set A Pre-designed Sets / 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