Hs03708997_cn

• Gene Symbol: SH3GL2
• Assay Reference Genome Location: Chr.9:17582478 on build GRCh38
• Cytoband: 9p22.2

Target Gene Details

• Entrez Gene ID: 6456
• Gene Name: SH3 domain containing GRB2 like 2, endophilin A1
• Gene Aliases: CNSA2, EEN-B1, SH3D2A, SH3P4
• Location: Chr.9:17578954-17797129 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SH3GL2	NM_003026.3			NP_003017.1
	AB206840.1			BAE44459.1
	AF036268.1			AAC04764.1
	AK057744.1
	AK293546.1
	AK293592.1
	AK312400.1
	BC032825.2			AAH32825.1
	BT019682.1			AAV38488.1
	CR542086.1			CAG46883.1
	CR542102.1			CAG46899.1
	DC309737.1
	X99657.1			CAA67971.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv26279	Chr.9:17581148 - 17634286 on Build GRCh38	Gain	SH3GL2
dgv7466n100	Chr.9:17577143 - 17636676 on Build GRCh38	Gain	SH3GL2
esv3573159	Chr.9:17506784 - 17662496 on Build GRCh38	Loss	CNTLN SH3GL2
esv2422265	Chr.9:17396713 - 17598189 on Build GRCh38	Duplication	CNTLN SH3GL2
esv2764160	Chr.9:17581424 - 17636676 on Build GRCh38	Gain	SH3GL2
nsv466269	Chr.9:17165700 - 17710409 on Build GRCh38	Gain	CNTLN SH3GL2
nsv613693	Chr.9:17147193 - 17710409 on Build GRCh38	Gain	CNTLN SH3GL2
dgv1457e214	Chr.9:17581661 - 17636018 on Build GRCh38	Gain	SH3GL2
nsv517380	Chr.9:17564269 - 17633234 on Build GRCh38	Gain+Loss	SH3GL2

More Information

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

Gene Ontology Categories:

Process(es)

regulation of receptor internalization
microtubule-based movement
signal transduction
central nervous system development
antigen processing and presentation of exogenous peptide antigen via MHC class II
negative regulation of epidermal growth factor receptor signaling pathway
synaptic vesicle endocytosis

Function(s)

protein binding
lipid binding
identical protein binding