Hs05987545_cn

• Gene Symbol: PSD2
• Assay Reference Genome Location: Chr.5:139687368 on build GRCh38
• Cytoband: 5q31.2

Target Gene Details

• Entrez Gene ID: 84249
• Gene Name: pleckstrin and Sec7 domain containing 2
• Gene Aliases: EFA6C
• Location: Chr.5:139683980-139844466 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PSD2	XM_017009975.1			XP_016865464.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830505	Chr.5:139551597 - 139745300 on Build GRCh38	Loss	PSD2 UBE2D2 LOC101929696 CXXC5
nsv519808	Chr.5:139396890 - 139805924 on Build GRCh38	Loss	PSD2 TMEM173 ECSCR SPATA24 UBE2D2 DNAJC18 LOC101929696 CXXC5
nsv462460	Chr.5:139553566 - 139765464 on Build GRCh38	Loss	PSD2 UBE2D2 LOC101929696 CXXC5
nsv830504	Chr.5:139511905 - 139701120 on Build GRCh38	Gain	PSD2 UBE2D2 CXXC5

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

regulation of ARF protein signal transduction
positive regulation of GTPase activity

Function(s)

ARF guanyl-nucleotide exchange factor activity
phospholipid binding