Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55613
Gene name	Myotubularin related protein 8
Gene symbol	MTMR8
Synonyms (NCBI Gene)	-
Chromosome	X
Chromosome location	Xq11.2
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).

Show/Hide all (31)

miRTarBase ID	miRNA	Experiments
MIRT1164304	hsa-miR-217	CLIP-seq
MIRT1164305	hsa-miR-23a	CLIP-seq
MIRT1164306	hsa-miR-23b	CLIP-seq
MIRT1164307	hsa-miR-23c	CLIP-seq
MIRT1164308	hsa-miR-323-3p	CLIP-seq
MIRT1164309	hsa-miR-3692	CLIP-seq
MIRT1164310	hsa-miR-4418	CLIP-seq
MIRT1164311	hsa-miR-4436b-5p	CLIP-seq
MIRT1164312	hsa-miR-509-3-5p	CLIP-seq
MIRT1164313	hsa-miR-509-5p	CLIP-seq
MIRT1164304	hsa-miR-217	CLIP-seq
MIRT1164305	hsa-miR-23a	CLIP-seq
MIRT1164306	hsa-miR-23b	CLIP-seq
MIRT1164307	hsa-miR-23c	CLIP-seq
MIRT1164308	hsa-miR-323-3p	CLIP-seq
MIRT1164309	hsa-miR-3692	CLIP-seq
MIRT1164310	hsa-miR-4418	CLIP-seq
MIRT1164311	hsa-miR-4436b-5p	CLIP-seq
MIRT1164312	hsa-miR-509-3-5p	CLIP-seq
MIRT1164313	hsa-miR-509-5p	CLIP-seq
MIRT1164304	hsa-miR-217	CLIP-seq
MIRT1164305	hsa-miR-23a	CLIP-seq
MIRT1164306	hsa-miR-23b	CLIP-seq
MIRT1164307	hsa-miR-23c	CLIP-seq
MIRT1164308	hsa-miR-323-3p	CLIP-seq
MIRT1164309	hsa-miR-3692	CLIP-seq
MIRT1164310	hsa-miR-4418	CLIP-seq
MIRT1164311	hsa-miR-4436b-5p	CLIP-seq
MIRT1164312	hsa-miR-509-3-5p	CLIP-seq
MIRT1164313	hsa-miR-509-5p	CLIP-seq
MIRT2276340	hsa-miR-499a-5p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IBA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IDA	22647598
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16787938, 22647598, 27880917, 28514442, 29892012, 31515488, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IBA
GO:0005635	Component	Nuclear envelope	IDA	16787938
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16787938
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0010507	Process	Negative regulation of autophagy	IPI	22647598
GO:0016241	Process	Regulation of macroautophagy	IMP	32915229
GO:0016787	Function	Hydrolase activity	IEA
GO:0032991	Component	Protein-containing complex	IDA	22647598
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	22647598
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0106018	Function	Phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA
GO:0106018	Function	Phosphatidylinositol-3,5-bisphosphate phosphatase activity	IDA	22647598
GO:0106018	Function	Phosphatidylinositol-3,5-bisphosphate phosphatase activity	IEA

MIM	HGNC	e!Ensembl
301061	16825	ENSG00000102043

Q96EF0

Protein name

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8 (EC 3.1.3.95) (Myotubularin-related protein 8) (Phosphatidylinositol-3-phosphate phosphatase)

Protein function

Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:22647598, PubMed:26

PDB

4Y7I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06602	Myotub-related	109 → 448	Myotubularin-like phosphatase domain	Domain

Sequence

MDHITVPKVENVKLVDRYVSKKPANGILYLTATHLIYVEASGAARKETWIALHHIATVEK
LPITSLGCPLTLRCKNFRVAHFVLDSDLVCHEVYISLLKLSQPALPEDLYAFSYNPKSSK
EMRESGWKLIDPISDFGRMGIPNRNWTITDANRNYEICSTYPPEIVVPKSVTLGTVVGSS
KFRSKERVPVLSYLYKENNAAICRCSQPLSGFYTRCVDDELLLEAISQTNPGSQFMYVVD
TRPKLNAMANRAAGKGYENEDNYANIRFRFMGIENIHVMRSSLQKLLEVCELKTPTMSEF
LSGLESSGWLRHIKAIMDAGIFITKAVKVEKASVLVHCSDGWDRTAQVCSVASILLDPFY
RTFKGLMILIEKEWISMGHKFSQRCGHLDGDSKEVSPIFTQFLDCIWQLMEQFPCAFEFN
ENFLLEIHDHVFSCQFGNFLGNCQKDREDLRVYEKTHSVWPFLVQRKPDFRNPLYKGFTM
YGVLNPSTVPYNIQFWCGMYNRFDKGLQPKQSMLESLLEIKKQRAMLETDVHELEKKLKV
RDEPPEEICTCSQLGNILSQHLGSPLTNPLGFMGINGDLNTLMENGTLSREGGLRAQMDQ
VKSQGADLHHNCCEIVGSLRAINISGDVGISEAMGISGDMCTFEATGFSKDLGICGAMDI
SEATGISGNLGISEARGFSGDMGILGDTGISKASTKEADYSKHQ

Sequence length

704

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of PIPs at the plasma membrane

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2521531393	RCV004557815
Kleine-Levin syndrome	Uncertain significance	rs199872073	RCV002509903
MTMR8-related disorder	Benign; Likely benign	rs73227155, rs184524117, rs780410879, rs73227152, rs368557871, rs61746243, rs145085079, rs142863085, rs142247409	RCV003919753 RCV003981582 RCV003974156 RCV003916916 RCV003964099 RCV003939633 RCV003951693 RCV003951790 RCV003914470 RCV003924323

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Glioblastoma	Associate	25502460
Multiple Sclerosis	Associate	35905688

MTMR8 (myotubularin related protein 8)