MTMR2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MTMR2 (HGNC:7450) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myotubularin related protein 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CMT4B
- Alias symbols
- KIAA1073
- %HI
- 23.95(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.65(Read more about gnomAD LOEUF score)
- Cytoband
- 11q21
- Genomic Coordinates
-
GRCh37/hg19: chr11:95566044-95657271 NCBI Ensembl UCSC GRCh38/hg38: chr11:95832880-95924107 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016156.6 ENST00000346299.10 (Read more about MANE Select)
- Function
- Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3- phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:11733541, PubMed:12668758, PubMed:21372139, PubMed:14690594). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5- trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in periphe... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12942
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Charcot-Marie-Tooth disease type 4B1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)