Gene Information
|
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
|
HTLV1 |
|
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] |
Target gene [SHANK2] related to VISs
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 |
| 6005226 |
chr11 |
72 |
18 |
2 |
92 |
View |
| 6014359 |
chr11 |
15 |
1 |
0 |
16 |
View |
| 6020168 |
chr11 |
7 |
0 |
0 |
7 |
View |
| 6021385 |
chr11 |
4 |
2 |
0 |
6 |
View |
| 6021477 |
chr11 |
5 |
0 |
1 |
6 |
View |
| 6022041 |
chr11 |
2 |
3 |
0 |
5 |
View |
| 6022776 |
chr11 |
4 |
1 |
0 |
5 |
View |
| 6029792 |
chr11 |
1 |
0 |
0 |
1 |
View |
Target gene [SHANK2] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - SHANK2 peak across samples
|
Peak Plot
|
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