MTMR4 (myotubularin related protein 4)

2012-09-01 Affiliation

Identity

HGNC

MTMR4

LOCATION

17q22

LOCUSID

9110

ALIAS

FYVE-DSP2,ZFYVE11

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9110
MIM: 603559
HGNC: 7452
Ensembl: ENSG00000108389

Variants:

dbSNP: 9110
ClinVar: 9110
TCGA: ENSG00000108389
COSMIC: MTMR4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108389	ENST00000323456	Q9NYA4
ENSG00000108389	ENST00000579921	J3QKV8
ENSG00000108389	ENST00000579925	J3QR65
ENSG00000108389	ENST00000582390	J3KT95
ENSG00000108389	ENST00000582663	J3QRJ2
ENSG00000108389	ENST00000583243	J3QS98
ENSG00000108389	ENST00000583656	J3QLB9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Inositol phosphate metabolism	KEGG	ko00562
Phosphatidylinositol signaling system	KEGG	ko04070
Autophagy - animal	KEGG	ko04140
Inositol phosphate metabolism	KEGG	hsa00562
Phosphatidylinositol signaling system	KEGG	hsa04070
Autophagy - animal	KEGG	hsa04140
Metabolic pathways	KEGG	hsa01100
Signal Transduction	REACTOME	R-HSA-162582
Signaling by TGF-beta Receptor Complex	REACTOME	R-HSA-170834
TGF-beta receptor signaling activates SMADs	REACTOME	R-HSA-2173789
Downregulation of TGF-beta receptor signaling	REACTOME	R-HSA-2173788
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Phospholipid metabolism	REACTOME	R-HSA-1483257
PI Metabolism	REACTOME	R-HSA-1483255
Synthesis of PIPs at the early endosome membrane	REACTOME	R-HSA-1660516
Synthesis of PIPs at the late endosome membrane	REACTOME	R-HSA-1660517

References

Pubmed ID	Year	Title	Citations
32173736	2021	MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.	19
32173736	2021	MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.	19
27625994	2016	MTMR4 Is Required for the Stability of the Salmonella-Containing Vacuole.	6
27625994	2016	MTMR4 Is Required for the Stability of the Salmonella-Containing Vacuole.	6
25659891	2015	Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission.	8
25659891	2015	Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission.	8
25195910	2014	Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4.	0
25195910	2014	Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4.	0
23150675	2013	Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins.	11
23150675	2013	Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins.	11
20061380	2010	MTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomes.	23
20736309	2010	The myotubularin phosphatase MTMR4 regulates sorting from early endosomes.	28
20061380	2010	MTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomes.	23
20736309	2010	The myotubularin phosphatase MTMR4 regulates sorting from early endosomes.	28
19125695	2009	The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4.	12

Citation

Dessen P

MTMR4 (myotubularin related protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52888/mtmr4

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