Hs00484338_cn

• Gene Symbol: AIMP2
• Assay Reference Genome Location: Chr.7:6023316 on build GRCh38
• Cytoband: 7p22.1

Target Gene Details

• Entrez Gene ID: 7965
• Gene Name: aminoacyl tRNA synthetase complex interacting multifunctional protein 2
• Gene Aliases: JTV-1, JTV1, P38
• Location: Chr.7:6009241-6023834 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AIMP2	NM_001326606.1			NP_001313535.1
	NM_001326607.1			NP_001313536.1
	NM_001326609.1			NP_001313538.1
	NM_001326611.1			NP_001313540.1
	NM_006303.3			NP_006294.2
	XM_005249847.3			XP_005249904.1
	XM_005249848.2			XP_005249905.1
	XM_005249850.3			XP_005249907.1
	XM_006715772.2			XP_006715835.1
	XM_011515519.1			XP_011513821.1
	AK313037.1
	BC002853.1			AAH02853.1
	BC010156.1			AAH10156.1
	BC013630.1			AAH13630.1
	CX867709.1
	U24169.1			AAC50391.1

Target Gene Details

• Entrez Gene ID: 27102
• Gene Name: eukaryotic translation initiation factor 2 alpha kinase 1
• Gene Aliases: HCR, HRI
• Location: Chr.7:6022247-6059229 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF2AK1	NM_001134335.1	15	3393	NP_001127807.1
	NM_014413.3	15	3396	NP_055228.2
	AB037790.1	15	3321

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1034916	Chr.7:5895149 - 6119339 on Build GRCh38	Gain	AIMP2 RSPH10B USP42 ANKRD61 PMS2 CCZ1 EIF2AK1
nsv436904	Chr.7:5035574 - 6713282 on Build GRCh38	Insertion	MIR6874 ACTB ZNF890P ZNF12 RBAKDN OCM ZNF815P C7orf26 LOC107986762 AIMP2 RSPH10B RBAK-RBAKDN RNF216 EIF2AK1 SLC29A4 LOC100419773 ZDHHC4 RNF216-IT1 FAM220A CYTH3 LOC221946 FSCN1 WIPI2 RAC1 LOC100129484 PMS2 CCZ1 DAGLB RBAK ZNF316 MIR589 ZNF853 USP42 FBXL18 ANKRD61 TNRC18 KDELR2 GRID2IP
nsv830894	Chr.7:5850027 - 6032584 on Build GRCh38	Loss	AIMP2 RSPH10B ANKRD61 OCM PMS2 CCZ1 ZNF815P EIF2AK1
nsv605998	Chr.7:5995434 - 6062403 on Build GRCh38	Loss	AIMP2 ANKRD61 PMS2 EIF2AK1
nsv1018388	Chr.7:5999082 - 6091538 on Build GRCh38	Gain	AIMP2 USP42 ANKRD61 PMS2 EIF2AK1

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein, non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

tRNA aminoacylation for protein translation
apoptotic process
negative regulation of cell proliferation
positive regulation of protein ubiquitination
Type II pneumocyte differentiation
positive regulation of neuron death
acute inflammatory response
phagocytosis
response to stress
response to external stimulus
regulation of translational initiation by eIF2 alpha phosphorylation
regulation of eIF2 alpha phosphorylation by heme
macrophage differentiation
negative regulation of translational initiation by iron
protoporphyrinogen IX metabolic process
protein autophosphorylation
negative regulation of hemoglobin biosynthetic process
iron ion homeostasis

Function(s)

protein binding
eukaryotic translation initiation factor 2alpha kinase activity
ATP binding
heme binding
protein homodimerization activity