2. Gene
  3. MTMR8 - myotubularin related protein 8 Gene

MTMR8 - myotubularin related protein 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
Homo sapiens
Gene ID: 55613 | Gene type: protein coding

About MTMR8

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,268,081-64,395,452 (from NCBI)

This gene has 4 transcripts (splice variants), 128 orthologues and 13 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]

MTMR8 Products(1)

mRNA Protein Name
NM_017677.4 NP_060147.2 myotubularin-related protein 8
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
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of autophagy IPI
IPI: Inferred from physical interaction
22647598 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: Inferred from direct assay
22647598 GOA
involved in regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
32915229 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
part of protein-containing complex IDA
IDA: Inferred from direct assay
22647598 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

MTMR8 Protein Structure

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (108 - 449)

  • 0
  • 200
  • 400
  • 600
  • 704 a.a.
Protein Preferred Names Protein Names

myotubularin-related protein 8

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

Related Diseases

Diseases Alias
Spastic Paraplegia 34, X-Linked

SPG34

Hereditary Spastic Paraplegia 34

X-Linked Spastic Paraplegia Type 34

X-Linked Spastic Paraplegia 34
Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome

OSCS

Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome

Os-Cs

Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease

Osc
Spastic Paraplegia 41, Autosomal Dominant

SPG41

Hereditary Spastic Paraplegia 41

Autosomal Dominant Spastic Paraplegia Type 41

Autosomal Dominant Spastic Paraplegia 41
Spastic Paraplegia 74, Autosomal Recessive

SPG74

Hereditary Spastic Paraplegia 74

Autosomal Recessive Spastic Paraplegia 74

Autosomal Recessive Spastic Paraplegia Type 74

Paraplegia, Spastic, Autosomal Recessive, Type 74
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349
Spastic Paraplegia 64, Autosomal Recessive

SPG64

Hereditary Spastic Paraplegia 64

Autosomal Recessive Spastic Paraplegia Type 64

Autosomal Recessive Spastic Paraplegia 64

Paraplegia, Spastic, Type 64, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant

SPG36

Hereditary Spastic Paraplegia 36

Autosomal Dominant Spastic Paraplegia Type 36

Autosomal Dominant Spastic Paraplegia 36
Spastic Paraplegia 9b, Autosomal Recessive

SPG9B

Autosomal Recessive Complex Spastic Paraplegia Type 9b

Hereditary Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia Type 9b

Ar-Spg9b
Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a

SPG9A

Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

Ad-Spg9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

Autosomal Dominant Spastic Paraplegia Type 9a

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

Spastic Paraplegia 9, Autosomal Dominant
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
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-RS08794 MTMR8 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown