MTMR8

myotubularin related protein 8, the group of Myotubularins|Phosphoinositide phosphatases

Basic information

Region (hg38): X:64268081-64395452

Links

ENSG00000102043 ∙ NCBI:55613 ∙ OMIM:301061 ∙ HGNC:16825 ∙ Uniprot:Q96EF0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTMR8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTMR8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			38	6	3	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2		2
Total	0	0	38	11	3

Variants in MTMR8

This is a list of pathogenic ClinVar variants found in the MTMR8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-64268644-A-T		MTMR8-related disorder	Benign (May 31, 2019)
X-64268645-G-T		MTMR8-related disorder	Benign (May 31, 2019)
X-64268649-C-T		not specified	Uncertain significance (Apr 06, 2024)
X-64268701-C-T		Kleine-Levin syndrome • not specified	Uncertain significance (Feb 28, 2023)
X-64268734-T-C		not specified	Uncertain significance (Apr 30, 2024)
X-64268764-T-G		not specified	Uncertain significance (Mar 22, 2023)
X-64268803-C-G			Likely benign (Mar 01, 2023)
X-64268808-A-G		MTMR8-related disorder	Benign (Dec 23, 2019)
X-64268818-A-C		not specified	Uncertain significance (Dec 01, 2022)
X-64268836-C-T			Likely benign (Jul 01, 2022)
X-64268859-A-G		not specified	Uncertain significance (Dec 05, 2022)
X-64268865-G-A		not specified	Uncertain significance (Nov 29, 2021)
X-64268959-G-A		not specified	Uncertain significance (Jun 13, 2022)
X-64268967-A-C		not specified	Uncertain significance (Nov 30, 2022)
X-64269006-C-T		not specified	Uncertain significance (Apr 08, 2023)
X-64269030-C-T		not specified	Likely benign (Aug 01, 2022)
X-64270955-G-C		not specified	Uncertain significance (Jul 30, 2023)
X-64271034-C-T		MTMR8-related disorder	Likely benign (May 24, 2019)
X-64271062-C-T			Uncertain significance (-)
X-64328858-C-A		not specified	Uncertain significance (Nov 13, 2023)
X-64328872-G-A		not specified	Uncertain significance (Jan 05, 2022)
X-64328886-G-A		not specified	Uncertain significance (May 14, 2024)
X-64331569-C-T		not specified	Uncertain significance (Dec 08, 2021)
X-64331701-A-G		not specified	Uncertain significance (Aug 02, 2023)
X-64336088-A-G		not specified	Uncertain significance (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTMR8	protein_coding	protein_coding	ENST00000374852	14	171147

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.01e-19	0.000270	125704	10	31	125745	0.000163

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.34	362	256	1.41	0.0000188	4665
Missense in Polyphen		62	53.29	1.1634		1019
Synonymous	-1.59	105	86.2	1.22	0.00000580	1309
Loss of Function	-1.42	24	17.6	1.37	0.00000118	358

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000583	0.000470
Ashkenazi Jewish	0.00140	0.000993
East Asian	0.0000763	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000222	0.000149
Middle Eastern	0.0000763	0.0000544
South Asian	0.000261	0.000131
Other	0.000224	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Phosphatase that acts on lipids with a phosphoinositol headgroup. {ECO:0000305}.
• Pathway: Inositol phosphate metabolism - Homo sapiens (human);Phosphatidylinositol signaling system - Homo sapiens (human);Metabolism of lipids;Metabolism;Synthesis of PIPs at the plasma membrane;PI Metabolism;Phospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.0849

Intolerance Scores

• loftool: 0.173
• rvis_EVS: -0.77
• rvis_percentile_EVS: 13.1

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.152
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.206

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Zebrafish Information Network

• Gene name: mtmr8
• Affected structure: slow muscle cell
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: phosphatidylinositol biosynthetic process;regulation of autophagy;peptidyl-tyrosine dephosphorylation;phosphatidylinositol dephosphorylation
• Cellular component: nuclear envelope;cytoplasm;cytosol
• Molecular function: phosphatidylinositol-3-phosphatase activity;protein tyrosine phosphatase activity;protein binding;phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity