MTMR14 - myotubularin related protein 14 Gene

Also Known as C3orf29

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64419

About MTMR14

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,649,505-9,702,393 (from NCBI)

This gene has 13 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 18.3), lymph node (RPKM 17.6) and 25 other tissues.

Summary

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide Phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

MTMR14 Products (36)

mRNA Protein Name
NM_001077525.3 NP_001070993.1 myotubularin-related protein 14 isoform 2
NM_001077526.3 NP_001070994.1 myotubularin-related protein 14 isoform 1
NM_001400518.1 NP_001387447.1 myotubularin-related protein 14 isoform 4
NM_001400519.1 NP_001387448.1 myotubularin-related protein 14 isoform 5
NM_001400520.1 NP_001387449.1 myotubularin-related protein 14 isoform 6
NM_001400521.1 NP_001387450.1 myotubularin-related protein 14 isoform 7
NM_001400522.1 NP_001387451.1 myotubularin-related protein 14 isoform 8
NM_001400523.1 NP_001387452.1 myotubularin-related protein 14 isoform 9
NM_001400524.1 NP_001387453.1 myotubularin-related protein 14 isoform 10
NM_001400525.1 NP_001387454.1 myotubularin-related protein 14 isoform 11
NM_001400526.1 NP_001387455.1 myotubularin-related protein 14 isoform 12
NM_001400527.1 NP_001387456.1 myotubularin-related protein 14 isoform 13
NM_001400528.1 NP_001387457.1 myotubularin-related protein 14 isoform 14
NM_001400529.1 NP_001387458.1 myotubularin-related protein 14 isoform 15
NM_001400530.1 NP_001387459.1 myotubularin-related protein 14 isoform 16
NM_001400531.1 NP_001387460.1 myotubularin-related protein 14 isoform 17
NM_001400532.1 NP_001387461.1 myotubularin-related protein 14 isoform 18
NM_001400533.1 NP_001387462.1 myotubularin-related protein 14 isoform 19
NM_001400534.1 NP_001387463.1 myotubularin-related protein 14 isoform 19
NM_001400535.1 NP_001387464.1 myotubularin-related protein 14 isoform 19
NM_001400536.1 NP_001387465.1 myotubularin-related protein 14 isoform 20
NM_001400537.1 NP_001387466.1 myotubularin-related protein 14 isoform 21
NM_001400538.1 NP_001387467.1 myotubularin-related protein 14 isoform 22
NM_001400539.1 NP_001387468.1 myotubularin-related protein 14 isoform 23
NM_001400540.1 NP_001387469.1 myotubularin-related protein 14 isoform 23
NM_001400541.1 NP_001387470.1 myotubularin-related protein 14 isoform 23
NM_001400542.1 NP_001387471.1 myotubularin-related protein 14 isoform 23
NM_001400543.1 NP_001387472.1 myotubularin-related protein 14 isoform 23
NM_001400544.1 NP_001387473.1 myotubularin-related protein 14 isoform 24
NM_001400545.1 NP_001387474.1 myotubularin-related protein 14 isoform 25
NM_001400546.1 NP_001387475.1 myotubularin-related protein 14 isoform 25
NM_001400547.1 NP_001387476.1 myotubularin-related protein 14 isoform 26
NM_001400548.1 NP_001387477.1 myotubularin-related protein 14 isoform 26
NM_001400549.1 NP_001387478.1 myotubularin-related protein 14 isoform 27
NM_001400550.1 NP_001387479.1 myotubularin-related protein 14 isoform 28
NM_022485.5 NP_071930.2 myotubularin-related protein 14 isoform 3
Molecular Function GO Annotation Evidence References Source
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
IDA: Inferred from direct assay
17008356 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: Inferred from direct assay
17008356 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence References Source
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
17008356 GOA
located in ruffle IDA
IDA: Inferred from direct assay
17008356 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
Protein Preferred Names Protein Names

myotubularin-related protein 14

  • NS5ATP4ABP1

MTMR14 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q13625-3 25416956
Intra
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q05BL1 25910212
Intra
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q05BL1 25910212
Intra
MTMR14 Q8NCE2 TP53BP2 Homo sapiens Q05BL1 25910212
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Myopathy
  • Muscular Diseases

  • Myopathies

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

Rhabdomyolysis-Myalgia Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 23
  • MRD23

  • Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency

  • Mental Retardation, Autosomal Dominant 23

  • Autosomal Dominant Non-Syndromic Intellectual Disability 23

  • Autosomal Dominant Intellectual Developmental Disorder 23

  • Autosomal Dominant Mental Retardation 23

  • Mental Retardation, Autosomal Dominant, Type 23

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Myopathy, X-Linked, With Excessive Autophagy
  • X-Linked Myopathy With Excessive Autophagy

  • Xmea

  • MEAX

  • Vacuolar 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

Orthologs Information

Species Symbol Source ID
Canis familiaris MTMR14 VGNC VGNC:43482
Mus musculus MTMR14 MGD MGI:1916075
Felis catus MTMR14 VGNC VGNC:63655
Rattus norvegicus MTMR14 RGD RGD:1304842
Bos taurus MTMR14 VGNC VGNC:31740
Macaca mulatta MTMR14 VGNC VGNC:75024
Others MTMR14 NCBI