MTMR8 (myotubularin related protein 8)

2014-11-01 Affiliation

Identity

HGNC

MTMR8

LOCATION

Xq11.2

LOCUSID

55613

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: 55613
HGNC: 16825
Ensembl: ENSG00000102043

Variants:

dbSNP: 55613
ClinVar: 55613
TCGA: ENSG00000102043
COSMIC: MTMR8

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102043	ENST00000374852	Q96EF0

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
Inositol phosphate metabolism	KEGG	hsa00562
Phosphatidylinositol signaling system	KEGG	hsa04070
Metabolic pathways	KEGG	hsa01100

References

Pubmed ID	Year	Title	Citations
26143924	2015	Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation.	2
24282552	2013	X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations.	1

Citation

Dessen P

MTMR8 (myotubularin related protein 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70561/mtmr8