Hs00563824_cn

• Gene Symbol: SHANK2
• Assay Reference Genome Location: Chr.11:70864220 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 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHANK2	NM_012309.4			NP_036441.2
	XM_017017387.1			XP_016872876.1
	XM_017017388.1			XP_016872877.1
	XM_017017389.1			XP_016872878.1
	AB208025.1
	DQ152234.1			AAZ77790.1

Target Gene Details

• Entrez Gene ID: 220070
• Gene Name: SHANK2 antisense RNA 3
• Gene Aliases: C11orf76
• Location: Chr.11:70862790-70865115 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHANK2-AS3	NR_073536.1	3	788
	BC004224.2	3	788	AAH04224.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv381	Chr.11:70850842 - 70884302 on Build GRCh38	Insertion	SHANK2-AS3 MIR3664 SHANK2
nsv555399	Chr.11:70851929 - 71158475 on Build GRCh38	Loss	SHANK2-AS3 MIR3664 SHANK2
esv993927	Chr.11:70861407 - 70874735 on Build GRCh38	Deletion	SHANK2-AS3 MIR3664 SHANK2

More Information

• Set Membership: Intragenic, Exonic, 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