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)