MTMR4 - myotubularin related protein 4 Gene

Also Known as ZFYVE11; FYVE-DSP2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9110

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables R-SMAD binding	IDA IDA: Inferred from direct assay	23150675	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	25659891	GOA
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA IDA: Inferred from direct assay	20736309	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA IDA: Inferred from direct assay	11302699	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IMP IMP: Inferred from mutant phenotype	31543504	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20061380	GOA
enables protein phosphatase binding	IPI IPI: Inferred from physical interaction	16787938	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in midbody abscission	IMP IMP: Inferred from mutant phenotype	25659891	GOA
involved in negative regulation of BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	23150675	GOA
involved in negative regulation of endocytic recycling	IMP IMP: Inferred from mutant phenotype	20736309	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	20061380	GOA
involved in phagosome maturation	IMP IMP: Inferred from mutant phenotype	31543504	GOA
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	16787938	GOA
involved in phosphatidylinositol dephosphorylation	IMP IMP: Inferred from mutant phenotype	20736309	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in early endosome membrane	IDA IDA: Inferred from direct assay	20736309	GOA
is active in early phagosome membrane	IDA IDA: Inferred from direct assay	31543504	GOA
is active in endosome membrane	IDA IDA: Inferred from direct assay	16787938	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	29962048	GOA
located in membrane	IDA IDA: Inferred from direct assay	11302699	GOA
located in recycling endosome membrane	IDA IDA: Inferred from direct assay	20736309	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

MTMR4 Protein Structure

Myotub-related

FYVE

0
200
400
600
800
1000
1195 a.a.

Protein Preferred Names	Protein Names
myotubularin-related protein 4	FYVE domain-containing dual specificity protein phosphatase 2

MTMR4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTMR4	Q9NYA4	SMAD3	Homo sapiens	P84022	Anti Bait CoIP	20061380

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08791	MTMR4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22654	Mtmr4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29168	Mtmr4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MTMR4	NCBI