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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55613
Gene name Gene Name - the full gene name approved by the HGNC.	Myotubularin related protein 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTMR8
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004438	Function	Phosphatidylinositol-3-phosphatase activity	IBA	21873635
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 16787938, 28514442, 29892012, 31515488
GO:0005635	Component	Nuclear envelope	IBA	21873635
GO:0005635	Component	Nuclear envelope	IDA	16787938
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	16787938
GO:0005829	Component	Cytosol	TAS
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0010507	Process	Negative regulation of autophagy	IBA	21873635
GO:0016020	Component	Membrane	IBA	21873635
GO:0016241	Process	Regulation of macroautophagy	IMP	32915229
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA	21873635
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0106018	Function	Phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA	21873635

MIM	HGNC	e!Ensembl
301061	16825	ENSG00000102043

Protein

UniProt ID

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 Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Glioblastoma	Associate	25502460
Multiple Sclerosis	Associate	35905688

MTMR8 (myotubularin related protein 8)