Hs07174921_cn

• Gene Symbol: EYA2
• Assay Reference Genome Location: Chr.20:46908388 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 2139
• Gene Name: EYA transcriptional coactivator and phosphatase 2
• Gene Aliases: EAB1
• Location: Chr.20:46894624-47188844 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EYA2	NM_005244.4			NP_005235.3
	NM_172110.3			NP_742108.2
	XM_005260327.2			XP_005260384.1
	XM_017027721.1			XP_016883210.1
	AK293032.1
	BC008803.2			AAH08803.1
	BC013882.2			AAH13882.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv510788	Chr.20:46884565 - 46990248 on Build GRCh38	Deletion	EYA2
nsv1061899	Chr.20:46498425 - 47439490 on Build GRCh38	Loss	MIR3616 LOC101927377 EYA2 TP53RK ZNF334 SLC2A10 LOC100131496 OCSTAMP ZMYND8 SLC13A3

More Information

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

Gene Ontology Categories:

Process(es)

DNA repair
transcription, DNA-templated
regulation of transcription, DNA-templated
mesodermal cell fate specification
striated muscle tissue development
histone dephosphorylation
peptidyl-tyrosine dephosphorylation
extrinsic apoptotic signaling pathway in absence of ligand
mitochondrial outer membrane permeabilization

Function(s)

magnesium ion binding
protein tyrosine phosphatase activity
protein binding