Browse SHANK3

Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Cytoplasm Cell junction, synapse, postsynaptic cell membrane, postsynaptic density Cell projection, dendritic spine Note=In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD).
Domain PF12796 Ankyrin repeats (3 copies)
PF16511 N-terminal or F0 domain of Talin-head FERM
PF00595 PDZ domain (Also known as DHR or GLGF)
PF00536 SAM domain (Sterile alpha motif)
PF07653 Variant SH3 domain
Function

Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation.

> Gene Ontology
 
Biological Process GO:0001941 postsynaptic membrane organization
GO:0006884 cell volume homeostasis
GO:0007015 actin filament organization
GO:0007215 glutamate receptor signaling pathway
GO:0007270 neuron-neuron synaptic transmission
GO:0007416 synapse assembly
GO:0007611 learning or memory
GO:0007612 learning
GO:0007613 memory
GO:0007638 mechanosensory behavior
GO:0008361 regulation of cell size
GO:0009612 response to mechanical stimulus
GO:0010469 regulation of receptor activity
GO:0010639 negative regulation of organelle organization
GO:0010720 positive regulation of cell development
GO:0010769 regulation of cell morphogenesis involved in differentiation
GO:0010975 regulation of neuron projection development
GO:0010976 positive regulation of neuron projection development
GO:0010996 response to auditory stimulus
GO:0016358 dendrite development
GO:0021537 telencephalon development
GO:0021544 subpallium development
GO:0021756 striatum development
GO:0021773 striatal medium spiny neuron differentiation
GO:0021872 forebrain generation of neurons
GO:0021879 forebrain neuron differentiation
GO:0021953 central nervous system neuron differentiation
GO:0022604 regulation of cell morphogenesis
GO:0022898 regulation of transmembrane transporter activity
GO:0030534 adult behavior
GO:0030900 forebrain development
GO:0031223 auditory behavior
GO:0031346 positive regulation of cell projection organization
GO:0032231 regulation of actin filament bundle assembly
GO:0032232 negative regulation of actin filament bundle assembly
GO:0032409 regulation of transporter activity
GO:0032411 positive regulation of transporter activity
GO:0032412 regulation of ion transmembrane transporter activity
GO:0032414 positive regulation of ion transmembrane transporter activity
GO:0032535 regulation of cellular component size
GO:0032956 regulation of actin cytoskeleton organization
GO:0032970 regulation of actin filament-based process
GO:0034762 regulation of transmembrane transport
GO:0034764 positive regulation of transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0034767 positive regulation of ion transmembrane transport
GO:0035176 social behavior
GO:0035249 synaptic transmission, glutamatergic
GO:0042297 vocal learning
GO:0042391 regulation of membrane potential
GO:0043113 receptor clustering
GO:0043270 positive regulation of ion transport
GO:0044708 single-organism behavior
GO:0045666 positive regulation of neuron differentiation
GO:0045794 negative regulation of cell volume
GO:0048167 regulation of synaptic plasticity
GO:0048168 regulation of neuronal synaptic plasticity
GO:0048169 regulation of long-term neuronal synaptic plasticity
GO:0048170 positive regulation of long-term neuronal synaptic plasticity
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0048813 dendrite morphogenesis
GO:0048814 regulation of dendrite morphogenesis
GO:0048854 brain morphogenesis
GO:0050769 positive regulation of neurogenesis
GO:0050773 regulation of dendrite development
GO:0050803 regulation of synapse structure or activity
GO:0050804 modulation of synaptic transmission
GO:0050805 negative regulation of synaptic transmission
GO:0050806 positive regulation of synaptic transmission
GO:0050807 regulation of synapse organization
GO:0050808 synapse organization
GO:0050890 cognition
GO:0051017 actin filament bundle assembly
GO:0051493 regulation of cytoskeleton organization
GO:0051494 negative regulation of cytoskeleton organization
GO:0051668 localization within membrane
GO:0051703 intraspecies interaction between organisms
GO:0051705 multi-organism behavior
GO:0051823 regulation of synapse structural plasticity
GO:0051835 positive regulation of synapse structural plasticity
GO:0051962 positive regulation of nervous system development
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0051968 positive regulation of synaptic transmission, glutamatergic
GO:0060078 regulation of postsynaptic membrane potential
GO:0060079 excitatory postsynaptic potential
GO:0060291 long-term synaptic potentiation
GO:0060292 long term synaptic depression
GO:0060996 dendritic spine development
GO:0060997 dendritic spine morphogenesis
GO:0060998 regulation of dendritic spine development
GO:0060999 positive regulation of dendritic spine development
GO:0061001 regulation of dendritic spine morphogenesis
GO:0061572 actin filament bundle organization
GO:0071625 vocalization behavior
GO:0072578 neurotransmitter-gated ion channel clustering
GO:0072657 protein localization to membrane
GO:0090066 regulation of anatomical structure size
GO:0097061 dendritic spine organization
GO:0097106 postsynaptic density organization
GO:0097107 postsynaptic density assembly
GO:0097113 AMPA glutamate receptor clustering
GO:0097114 NMDA glutamate receptor clustering
GO:0097117 guanylate kinase-associated protein clustering
GO:0097688 glutamate receptor clustering
GO:0098596 imitative learning
GO:0098597 observational learning
GO:0098598 learned vocalization behavior or vocal learning
GO:0098815 modulation of excitatory postsynaptic potential
GO:0099068 postsynapse assembly
GO:0099565 chemical synaptic transmission, postsynaptic
GO:0099601 regulation of neurotransmitter receptor activity
GO:1900006 positive regulation of dendrite development
GO:1900271 regulation of long-term synaptic potentiation
GO:1900273 positive regulation of long-term synaptic potentiation
GO:1900449 regulation of glutamate receptor signaling pathway
GO:1900451 positive regulation of glutamate receptor signaling pathway
GO:1900452 regulation of long term synaptic depression
GO:1904861 excitatory synapse assembly
GO:2000273 positive regulation of receptor activity
GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
GO:2000463 positive regulation of excitatory postsynaptic potential
GO:2000969 positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
Molecular Function GO:0003779 actin binding
GO:0008022 protein C-terminus binding
GO:0017124 SH3 domain binding
GO:0030159 receptor signaling complex scaffold activity
GO:0030160 GKAP/Homer scaffold activity
GO:0032947 protein complex scaffold
GO:0035254 glutamate receptor binding
GO:0035255 ionotropic glutamate receptor binding
GO:0043621 protein self-association
GO:0097110 scaffold protein binding
Cellular Component GO:0005929 cilium
GO:0014069 postsynaptic density
GO:0030425 dendrite
GO:0031253 cell projection membrane
GO:0043197 dendritic spine
GO:0044309 neuron spine
GO:0044441 ciliary part
GO:0045211 postsynaptic membrane
GO:0060076 excitatory synapse
GO:0060170 ciliary membrane
GO:0097060 synaptic membrane
GO:0098794 postsynapse
GO:0099572 postsynaptic specialization
> KEGG and Reactome Pathway
 
KEGG hsa04724 Glutamatergic synapse
Reactome R-HSA-422475: Axon guidance
R-HSA-1266738: Developmental Biology
R-HSA-6794361: Interactions of neurexins and neuroligins at synapses
R-HSA-112316: Neuronal System
R-HSA-6794362: Protein-protein interactions at synapses
R-HSA-8853659: RET signaling
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between SHANK3 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of SHANK3 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NSNA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NSNA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NSNA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NSNA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NSNA/NS
24476824shRNAmelanomaB16Primary screen NA/NSNA/NS
24476824shRNAmelanomaB16Secondary screen NA/NSNA/NS
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of SHANK3 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.3290.252
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)65-0.6850.55
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.0720.936
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.0370.926
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.2430.927
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.3890.908
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.3770.282
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.1010.932
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 11120.6540.627
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.5250.567
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 281.4680.209
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.2840.00448
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of SHANK3 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277311.11.49.70.0589
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275911.11.79.40.0895
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.85.9-1.11
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.79.1-1.41
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91633.3033.30.0365
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59200200.357
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47500500.109
1329033130MelanomaallAnti-PD-1 (nivolumab) 38277.97.40.51
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22139.17.71.41
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16146.27.1-0.91
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of SHANK3. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of SHANK3. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by SHANK3.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of SHANK3. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of SHANK3 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between SHANK3 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolSHANK3
NameSH3 and multiple ankyrin repeat domains 3
Aliases SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ......
Chromosomal Location22q13.3
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting SHANK3 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.