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MTMR8 - myotubularin related protein 8 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55613

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	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	16189514	GOA

Biological Process GO Annotation	Evidence	References	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	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
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

0
200
400
600
704 a.a.

Protein Preferred Names	Protein Names
myotubularin-related protein 8	phosphatidylinositol-3,5-bisphosphate 3-phosphatase

MTMR8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTMR8	Q96EF0	MTMR9	Homo sapiens	Q96QG7	Y2H Array	31515488
Intra	MTMR8	Q96EF0	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	27880917
Intra	MTMR8	Q96EF0	MTMR9	Homo sapiens	Q96QG7	Y2H Array	29892012

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08794	MTMR8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08795	MTMR9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown