Hs03790223_cn

• Gene Symbol: SHANK2
• Assay Reference Genome Location: Chr.11:70632737 on build GRCh38
• Cytoband: 11q13.4

Target Gene Details

• Entrez Gene ID: 22941
• Gene Name: SH3 and multiple ankyrin repeat domains 2
• Gene Aliases: AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
• Location: Chr.11:70467856-71252724 on Build GRCh38
• Assay Gene Location: Within Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHANK2	NM_012309.4			NP_036441.2
	NM_133266.4			NP_573573.2
	NR_110766.1
	XM_005277932.3			XP_005277989.1
	XM_017017387.1			XP_016872876.1
	XM_017017388.1			XP_016872877.1
	XM_017017389.1			XP_016872878.1
	XM_017017390.1			XP_016872879.1
	AB208025.1
	AB208026.1
	AB208027.1
	AF141901.1			AAF02496.1
	BC093885.1			AAH93885.1
	BC112097.1			AAI12098.1
	BC114484.1			AAI14485.1
	BC143389.1
	DQ152234.1			AAZ77790.1

Target Gene Details

• Entrez Gene ID: 100874198
• Gene Name: SHANK2 antisense RNA 1
• Gene Aliases: -
• Location: Chr.11:70631094-70635490 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHANK2-AS1	NR_046567.1
	AK097446.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv818850	Chr.11:70630705 - 70650536 on Build GRCh38	Loss	SHANK2-AS1 SHANK2

More Information

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

Gene Ontology Categories:

Process(es)

synapse assembly
learning
adult behavior
social behavior
long-term synaptic potentiation
long term synaptic depression
vocalization behavior

Function(s)

protein binding
SH3 domain binding
GKAP/Homer scaffold activity
ionotropic glutamate receptor binding