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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kleine-Levin syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MTMR8-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MTMR8 (myotubularin related protein 8)