Hs02236651_cn

• Gene Symbol: EIF2S1
• Assay Reference Genome Location: Chr.14:67360473 on build GRCh38
• Cytoband: 14q23.3

Target Gene Details

• Entrez Gene ID: 1965
• Gene Name: eukaryotic translation initiation factor 2 subunit alpha
• Gene Aliases: EIF-2, EIF-2A, EIF-2alpha, EIF2, EIF2A
• Location: Chr.14:67360317-67386516 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EIF2S1	NM_004094.4			NP_004085.1
	AK297244.1
	AK312442.1
	BC002513.2			AAH02513.1
	BX161521.1			CAD61953.1
	D28379.1			BAA05745.1
	J02645.1			AAA52373.1

Target Gene Details

• Entrez Gene ID: 10243
• Gene Name: gephyrin
• Gene Aliases: GEPH, GPH, GPHRYN, HKPX1, MOCODC
• Location: Chr.14:66507407-67735831 on Build GRCh38
• Assay Gene Location: Within Intron 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPHN	XM_017020925.1			XP_016876414.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2751285	Chr.14:66898030 - 67420064 on Build GRCh38	Gain	GPHN LOC105370541 ATP6V1D MPP5 PLEK2 EIF2S1 FAM71D
nsv832821	Chr.14:67123701 - 67361452 on Build GRCh38	Gain	GPHN LOC105370541 ATP6V1D MPP5 EIF2S1 FAM71D
nsv456331	Chr.14:67266144 - 67637063 on Build GRCh38	Gain	HMGB1P34 TMEM229B PIGH MIR5694 GPHN LOC105370541 ATP6V1D MPP5 ARG2 PLEKHH1 PLEK2 EIF2S1

More Information

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

Panther Classification:

Molecular Function -

translation initiation factor

Gene Ontology Categories:

Process(es)

positive regulation of defense response to virus by host
translational initiation
aging
negative regulation of translational initiation in response to stress
cellular response to amino acid starvation
cellular response to heat
cellular response to UV
response to endoplasmic reticulum stress
PERK-mediated unfolded protein response
protein autophosphorylation
transmembrane transport
mitophagy in response to mitochondrial depolarization
xenophagy
positive regulation of neuron death
response to manganese-induced endoplasmic reticulum stress
positive regulation of type B pancreatic cell apoptotic process
Mo-molybdopterin cofactor biosynthetic process
molybdenum incorporation into molybdenum-molybdopterin complex
molybdopterin cofactor biosynthetic process
glycine receptor clustering
gamma-aminobutyric acid receptor clustering

Function(s)

translation initiation factor activity
protein binding
ribosome binding
poly(A) RNA binding
ATP binding
metal ion binding
molybdopterin adenylyltransferase activity
molybdopterin molybdotransferase activity