• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EIF2B3 (HGNC:3259) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
eukaryotic translation initiation factor 2B subunit gamma
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
EIF2Bgamma, EIF-2B
%HI
14.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.57(Read more about gnomAD pLI score)
LOEUF
0.43(Read more about gnomAD LOEUF score)
Cytoband
1p34.1
Genomic Coordinates
GRCh37/hg19: chr1:45316194-45452267 NCBI Ensembl UCSC
GRCh38/hg38: chr1:44850522-44986595 NCBI Ensembl UCSC
MANE Select Transcript
NM_020365.5 ENST00000360403.7 (Read more about MANE Select)
Function
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on the eukaryotic initiation factor 2 (eIF2) complex gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is re... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32921
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:
  • syndromic complex neurodevelopmental disorder Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)