Gene Name	SHANK2
Gene ID	22941
Gene Full Name	SH3 and multiple ankyrin repeat domains 2
Gene Alias	AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Transcripts	ENSG00000162105
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Nuclear speckles, Vesicles;Nucleoplasm, Plasma membrane;
Membrane Info	Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Uniport_ID	Q9UPX8
HGNC ID	HGNC:14295
OMIM ID	603290
Summary	This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
5005919	chr11	0	0	0	0	View
5008831	chr11	4	33	7	44	View
5014796	chr11	3	0	0	3	View
5014797	chr11	7	0	1	8	View
5014798	chr11	7	10	0	17	View
5016640	chr11	20	2	2	24	View
5016641	chr11	39	18	4	61	View
5016642	chr11	38	19	4	61	View
5016643	chr11	15	0	0	15	View
5016644	chr11	69	1	0	70	View

Data ID	Experiment type	Sample number	Platform
C   GSE183048	Chip-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE65858	Expression array	270	Illumina HumanHT-12 V4.0 expression beadchip
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE138080	Expression array	35	Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE165883	RNA-seq	20	Illumina NextSeq 500 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE183048 - SHANK2 peak across samples

Peak Plot

> Dataset: GSE143026 - SHANK2 peak across samples

Peak Plot