MTMR10 - myotubularin related protein 10 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54893

About MTMR10

This gene has 10 transcripts (splice variants), 1 gene allele, 232 orthologues and 13 paralogues. Ubiquitous expression in kidney (RPKM 17.0), placenta (RPKM 15.7) and 25 other tissues.

Summary

Predicted to enable phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MTMR10 Products (1)

mRNA Protein Name
NM_017762.3 NP_060232.2 myotubularin-related protein 10
Cellular Component GO Annotation Evidence Références 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

MTMR10 Protein Structure

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (175 - 334)

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (336 - 514)

3-PAP

3-PAP: Myotubularin-associated protein (574 - 708)

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

myotubularin-related protein 10

  • inactive phosphatidylinositol 3-phosphatase 10

Related Diseases

Diseases Alias
Interstitial Nephritis, Karyomegalic
  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn

Schizophrenia 10
  • SCZD10

  • Schizophrenia Susceptibility Locus, Chromosome 15q15-Related

  • Catatonia, Periodic

Chromosome 15q13.3 Deletion Syndrome
  • Chromosome 15q13.3 Microdeletion Syndrome

  • 15q13.3 Microdeletion Syndrome

  • 15q13.3 Microdeletion

  • Microdeletion 15q13.3 Syndrome

  • Del(15)(Q13.3)

  • Monosomy 15q13.3

Charcot-Marie-Tooth Disease, Type 4b3
  • Charcot-Marie-Tooth Disease Type 4b3

  • CMT4B3

  • Charcot-Marie-Tooth Disease With Focally Folded Myelin

  • Charcot-Marie-Tooth Disease 4b3

  • Charcot-Marie-Tooth Neuropathy Type 4b3

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

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 1

  • Jeune Syndrome

  • SRTD1

  • Atd1

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Atd

  • Asphyxiating Thoracic Dystrophy

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune'S Syndrome

  • Thoracic Pelvic Phalangeal Dystrophy

  • Jeune Thoracic Dystrophy

Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Epilepsy, Idiopathic Generalized
  • Idiopathic Generalized Epilepsy

  • Generalised Epilepsy

  • Epilepsy, Generalized

  • EIG

  • Ige

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 1

  • Epilepsy, Idiopathic Generalized 1

  • Epilepsy, Idiopathic Generalized, Susceptibility To

  • Epilepsy, Idiopathic, Generalized

  • Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

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

Orthologs Information

Species Symbol Source ID
Felis catus MTMR10 VGNC VGNC:63652
Macaca mulatta MTMR10 VGNC VGNC:84402
Mus musculus MTMR10 MGD MGI:2142292
Rattus norvegicus MTMR10 RGD RGD:1305958
Canis familiaris MTMR10 VGNC VGNC:43479
Bos taurus MTMR10 VGNC VGNC:31737
Others MTMR10 NCBI