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)
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:
- 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)