GeneBe

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.

  • not_specified (86 variants)
  • MTMR8-related_disorder (9 variants)
  • not_provided (8 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
  • Kleine-Levin_syndrome (1 variants)

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. These statistics are base on transcript: NM_000017677.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
86
clinvar
9
clinvar
3
clinvar
 98
nonsense
0
start loss
0
frameshift
1
clinvar
1
clinvar
 2
splice donor/acceptor (+/-2bp)
0
Total 0 0 87 13 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MTMR8protein_codingprotein_codingENST00000374852 14171147
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.01e-190.00027012570410311257450.000163
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-2.343622561.410.00001884665
Missense in Polyphen6253.291.16341019
Synonymous-1.5910586.21.220.000005801309
Loss of Function-1.422417.61.370.00000118358

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005830.000470
Ashkenazi Jewish0.001400.000993
East Asian0.00007630.0000544
Finnish0.000.00
European (Non-Finnish)0.0002220.000149
Middle Eastern0.00007630.0000544
South Asian0.0002610.000131
Other0.0002240.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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