EIF2B1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EIF2B1 (HGNC:3257) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
eukaryotic translation initiation factor 2B subunit alpha
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EIF2B
Alias symbols
EIF-2Balpha, EIF-2B, EIF2BA, EIF2Balpha
%HI
49.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.06(Read more about gnomAD LOEUF score)
Cytoband
12q24.31
Genomic Coordinates
GRCh37/hg19: chr12:124104953-124118233 NCBI Ensembl UCSC
GRCh38/hg38: chr12:123620406-123633686 NCBI Ensembl UCSC
MANE Select Transcript
NM_001414.4 ENST00000424014.7 (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 eukaryotic initiation factor 2 (eIF2) 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 repressed (Pu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27294
ClinGen Curation ID:
CCID:007060
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
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 Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)