Hs04580381_cn

• Gene Symbol: EIF2AK3
• Assay Reference Genome Location: Chr.2:88577400 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 9451
• Gene Name: eukaryotic translation initiation factor 2 alpha kinase 3
• Gene Aliases: PEK, PERK, WRS
• Location: Chr.2:88556740-88627576 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF2AK3	NM_001313915.1			NP_001300844.1
	NM_004836.6			NP_004827.4
	XM_017005376.1			XP_016860865.1
	AF110146.1			AAD19961.1
	AF193339.1			AAF61199.1
	AK128659.1
	AK308312.1
	AK315287.1
	BC126354.1
	BC126356.1
	CR749382.1			CAH18234.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470476	Chr.2:88384248 - 88829483 on Build GRCh38	Gain	FOXI3 TEX37 EIF2AK3 LOC101928403 LOC101928371 RPIA MIR4436A ANKRD36BP2
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	FOXI3 SMYD1 IGKV3D-15 LINC00152 IGKC IGKV1D-13 FABP1 PLGLB2 ANKRD36BP2 IGKV2-24 LOC101927050 KRCC1 RGPD2 IGKV3-20 IGK LOC107985911 MIR4780 IGKV1D-8 LOC101928403 LOC101928371 RPIA MIR4435-1 LOC730268 THNSL2 TEX37 EIF2AK3 IGKV1-5 IGKV2-29 IGKV2-26 MIR4436A
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	FOXI3 SMYD1 IGKV3D-15 LINC00152 IGKC IGKV1D-13 FABP1 PLGLB2 ANKRD36BP2 IGKV2-24 LOC101927050 KRCC1 RGPD2 IGKV3-20 IGK LOC107985911 MIR4780 IGKV1D-8 LOC101928403 LOC101928371 RPIA MIR4435-1 LOC730268 THNSL2 TEX37 EIF2AK3 IGKV1-5 IGKV2-29 IGKV2-26 MIR4436A
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	FOXI3 SMYD1 MIR4780 LOC101928403 LOC101928371 FABP1 RPIA ANKRD36BP2 THNSL2 TEX37 EIF2AK3 KRCC1 RGPD2 MIR4436A
nsv1148611	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	FOXI3 SMYD1 IGKV3D-15 LINC00152 IGKC IGKV1D-13 FABP1 PLGLB2 ANKRD36BP2 IGKV2-24 LOC101927050 KRCC1 RGPD2 IGKV3-20 IGK LOC107985911 MIR4780 IGKV1D-8 LOC101928403 LOC101928371 RPIA MIR4435-1 LOC730268 THNSL2 TEX37 EIF2AK3 IGKV1-5 IGKV2-29 IGKV2-26 MIR4436A
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	FOXI3 SMYD1 MIR4780 LOC101928403 LOC101928371 FABP1 RPIA ANKRD36BP2 THNSL2 TEX37 EIF2AK3 KRCC1 RGPD2
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	IGKV3-20 IGK FOXI3 SMYD1 MIR4780 IGKC LOC101928403 LOC101928371 FABP1 RPIA ANKRD36BP2 IGKV2-24 THNSL2 TEX37 EIF2AK3 IGKV1-5 KRCC1 IGKV2-26 MIR4436A

More Information

Additional Information:

For this assay, SNP(s) [rs72921085] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

skeletal system development
ossification
angiogenesis
chondrocyte development
protein phosphorylation
activation of cysteine-type endopeptidase activity involved in apoptotic process
ER overload response
endoplasmic reticulum organization
positive regulation of vascular endothelial growth factor production
positive regulation of gene expression
regulation of translational initiation by eIF2 alpha phosphorylation
negative regulation of translation
peptidyl-serine phosphorylation
calcium-mediated signaling
insulin secretion
bone mineralization
endoplasmic reticulum unfolded protein response
endocrine pancreas development
negative regulation of myelination
negative regulation of translational initiation in response to stress
cellular response to amino acid starvation
response to endoplasmic reticulum stress
eiF2alpha phosphorylation in response to endoplasmic reticulum stress
PERK-mediated unfolded protein response
cellular response to glucose starvation
positive regulation of transcription from RNA polymerase I promoter
protein autophosphorylation
insulin-like growth factor receptor signaling pathway
protein homooligomerization
regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation
cellular response to cold
positive regulation of protein localization to nucleus
regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
response to manganese-induced endoplasmic reticulum stress

Function(s)

protein kinase activity
protein serine/threonine kinase activity
eukaryotic translation initiation factor 2alpha kinase activity
protein binding
ATP binding
enzyme binding
protein phosphatase binding
identical protein binding
protein homodimerization activity
Hsp90 protein binding