MTMR8 (Entrez ID: 55613)

Entrez Gene ID	55613
Official Gene Symbol	MTMR8 (GeneCards)
Full name	myotubularin related protein 8
Location	Xq11.2
Other ids	Vega : OTTHUMG00000021707 HGNC : HGNC:16825 Ensembl : ENSG00000102043
Other names	None
Summary	This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]

Variants

Found 5 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1063	55613	MTMR8	X	63548677	63548677	Human Skin Fibroblasts	HiSeq 2500
22115	55613	MTMR8	X	64041016	64041016	Asymptomatic	HiSeq 2500 HiSeq X Ten
24299	55613	MTMR8	X	63558764	63558764	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
28921	55613	MTMR8	X	63833647	63833647	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
28968	55613	MTMR8	X	63892550	63892550	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning