METTL23 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- METTL23 (HGNC:26988) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- methyltransferase 23, arginine
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C17orf95
- Alias symbols
- LOC124512
- %HI
- 47.56(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.77(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:74722123-74729963 NCBI Ensembl UCSC GRCh38/hg38: chr17:76726041-76733881 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001080510.5 ENST00000341249.11 (Read more about MANE Select)
- Function
- Histone methyltransferase that dimethylates histone H3 at 'Arg-17', forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling (By similarity). Maternal factor involved in epigenetic chromatin reprogramming of the paternal genome in the zygote: mediates H3R17me2a, promoting histone H3.3 incorporation in the male pronucleus, leading to TET3 recruitment and subsequent DNA demethylation (By similarity). {ECO:0000250|UniProtKB:A2AA28}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-32063
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- intellectual disability, autosomal recessive 44 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)