Eukaryotic Translation Initiation Factor 2-Alpha Kinase 4

Alternative Names

EIF2AK4
General Control Nonderepressible 2
GCN2
KIAA1338

Length

101,477 bases

No. of Exons

No. of isoforms

Protein Name

eIF-2-Alpha Kinase GCN2

Molecular Mass

186911 Da

Amino Acid Count

1649

Genomic Location

chr15:39,934,114-40,035,590

Gene Map Locus

15q15.1

Description

This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001013703.3:c.665C>T	United Arab Emirates	NC_000015.10:g.39955690C>T		Likely Benign		NG_034053.1:g.26567C>T; NM_001013703.3:c.665C>T; NP_001013725.2:p.Thr222Met	763789806
NM_001013703.4:c.1671A>G	Lebanon	chr15:39973602		Pathogenic	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	NG_034053.1:g.44479A>G; NM_001013703.4:c.1671A>G; NP_001013725.2:p.Gly557=	779495491
NM_001013703.4:c.560_564del	Lebanon	chr15:39953950-39953954	Pathogenic	Pathogenic	Pulmonary Venoocclusive Disease 2, Autosomal Recessive	NG_034053.1:g.24827_24831del; NM_001013703.4:c.560_564del; NP_001013725.2:p.Lys187fs	772487425	280131

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External Links

https://medlineplus.gov/genetics/gene/eif2ak4/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=EIF2AK4

Contributors

Pratibha Nair: 17.02.2022
Sayeeda Hana: 14.10.2020

Edit History

Pratibha Nair: 17.02.2022
Sayeeda Hana: 14.10.2020

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