EIF4A2
entrez
1974
canonical
uniprot
Q14240
canonical
ensembl
ENSG00000156976
resolver
ensp
ENSP00000326381
resolver
genesymbol
EIF4A2
resolver
genesymbol_syn
DDX2B
resolver
genesymbol_syn
EIF4F
resolver
hgnc
HGNC:3284
resolver
uniprot
D3DNU9
resolver
uniprot
Q53XJ6
resolver
uniprot
Q96B90
resolver
uniprot
Q96EA8
resolver
uniprot_entry
IF4A2_HUMAN
resolver
uniprot_sec
D3DNU9
resolver
uniprot_sec
Q53XJ6
resolver
uniprot_sec
Q96B90
resolver
uniprot_sec
Q96EA8
resolver
amino_acid_sequence
MSGGSADYNREHGGPEGMDPDGVIESNWNEIVDNFDDMNLKESLLRGIYAYGFEKPSAIQQRAIIPCIKGYDVIAQAQSGTGKTATFAISILQQLEIEFKETQALVLAPTRELAQQIQKVILALGDYMGATCHACIGGTNVRNEMQKLQAEAPHIVVGTPGRVFDMLNRRYLSPKWIKMFVLDEADEMLSRGFKDQIYEIFQKLNTSIQVVLLSATMPTDVLEVTKKFMRDPIRILVKKEELTLEGIKQFYINVEREEWKLDTLCDLYETLTITQAVIFLNTRRKVDWLTEKMHARDFTVSALHGDMDQKERDVIMREFRSGSSRVLITTDLLARGIDVQQVSLVINYDLPTNRENYIHRIGRGGRFGRKGVAINFVTEEDKRILRDIETFYNTTVEEMPMNVADLI
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) [MIM:620455]: A disorder characterized by global developmental delay, intellectual disability, poor or absent speech, hypotonia, epilepsy, and structural brain anomalies. Inheritance is autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:36528028}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
function
FUNCTION: ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.
uniprot
proteins
mass_dalton
46402
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
protein_family
eIF4A subfamily
uniprot
proteins
pubmed
11408474
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15715967
uniprot
proteins
pubmed
16014927
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
20941364
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
36528028
uniprot
proteins
pubmed
36868207
uniprot
proteins
pubmed
8521730
uniprot
proteins
sequence_length
407
uniprot
proteins