1. Gene
  2. MTMR14 - myotubularin related protein 14 Gene

MTMR14 - myotubularin related protein 14 Gene

Homo sapiens

Also known as C3orf29

Gene ID: 64419 | Gene type: protein coding

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
Protein Preferred Names Protein Names

myotubularin-related protein 14

NS5ATP4ABP1

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