2. Gene
  3. MTMR4 - myotubularin related protein 4 Gene

MTMR4 - myotubularin related protein 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ZFYVE11; FYVE-DSP2

Gene ID: 9110 | Gene type: protein coding

About MTMR4

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,489,537-58,519,047 (from NCBI)

This gene has 10 transcripts (splice variants), 226 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 12.1), brain (RPKM 10.5) and 25 other tissues.

Summary

Enables protein Phosphatase binding activity. Involved in regulation of phosphatidylinositol dephosphorylation. Located in endosome. [provided by Alliance of Genome Resources, Apr 2022]

MTMR4 Products(3)

mRNA Protein Name
NM_001378066.1 NP_001364995.1 myotubularin-related protein 4 isoform 2
NM_001378067.1 NP_001364996.1 myotubularin-related protein 4 isoform 3
NM_004687.5 NP_004678.3 myotubularin-related protein 4 isoform 1

MTMR4 Protein Structure

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (126 - 520)

FYVE

FYVE: FYVE zinc finger (1110 - 1174)

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  • 1000
  • 1195 a.a.
Protein Preferred Names Protein Names

myotubularin-related protein 4

FYVE domain-containing dual specificity protein phosphatase 2

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Recessive Intermediate C

Charcot-Marie-Tooth Disease Recessive Intermediate C

CMTRIC

Ri-Cmtc

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C

Ri-Cmt Type C

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C

Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C

Charcot-Marie-Tooth Neuropathy Recessive Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE

Charcot-Marie-Tooth Disease Dominant Intermediate E

Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Charcot-Marie-Tooth Disease-Nephropathy Syndrome

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
Mulibrey Nanism

MUL

Muscle-Liver-Brain-Eye Nanism

Pericardial Constriction And Growth Failure

Perheentupa Syndrome

Mulibrey Growth Disorder

Mulibrey Nanism Syndrome

Pericardial Constriction With Growth Failure

Nanism Mulibrey
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12

Mddga12

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
Brown-Vialetto-Van Laere Syndrome 2

BVVLS2

Rfvt3-Related Riboflavin Transporter Deficiency

Rtd3

Riboflavin Transporter Deficiency 3

Brown-Vialetto-Van Laere Syndrome, Type 2
Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T

Charcot-Marie-Tooth Disease Axonal Type 2t

Charcot-Marie-Tooth Neuropathy, Type 2t

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t

Ar-Cmt2t

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy Type 2t

Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Cmt2

Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease 2t

Charcot-Marie-Tooth Neuropathy Axonal Type 2t
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4

FTDALS4

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4
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
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
Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome
Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii
Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy
Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae
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-RS08791 MTMR4 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MTMR4 VGNC VGNC:43485
Bos taurus MTMR4 VGNC VGNC:31743
Felis catus MTMR4 VGNC VGNC:68348
Mus musculus MTMR4 MGD MGI:2180699
Rattus norvegicus MTMR4 RGD RGD:1310306
Macaca mulatta MTMR4 VGNC VGNC:99174