Hs01953147_cn

• Gene Symbol: EIF2AK3
• Assay Reference Genome Location: Chr.2:88557753 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 Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF2AK3	NM_001313915.1	17	3210	NP_001300844.1
	NM_004836.6	17	3636	NP_004827.4
	XM_017005376.1	18	3528	XP_016860865.1
	AF110146.1	17	3403	AAD19961.1
	AF193339.1	17	3633	AAF61199.1
	AK128659.1	18	3389
	AK315287.1
	BC126354.1	17	3430
	BC126356.1	17	3427
	CR749382.1	17	3211	CAH18234.1

Target Gene Details

• Entrez Gene ID: 101928371
• Gene Name: uncharacterized LOC101928371
• Gene Aliases: -
• Location: Chr.2:88538720-88575610 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101928371	NR_110236.1

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

More Information

• Set Membership: Intragenic, Exonic, 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