EIF2B3 |
- 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
- 0.93(Read more about gnomAD pLI score)
- LOEUF
- 0.52(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
ClinGen Curation ID:
CCID:007061
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)