Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | 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. |
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 |
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 | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
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. |
There is no record. |
Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
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
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Statistical results of SHANK3 in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
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 |
Points in the above scatter plot represent the expression difference of SHANK3 in various data sets.
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Points in the above scatter plot represent the mutation difference of SHANK3 in various data sets.
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Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
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. |
Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
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 |
Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
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 |
Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of SHANK3 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between SHANK3 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
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Symbol | SHANK3 |
Name | SH3 and multiple ankyrin repeat domains 3 |
Aliases | SPANK-2; prosap2; KIAA1650; PSAP2; proline rich synapse associated protein 2; shank postsynaptic density pro ...... |
Chromosomal Location | 22q13.3 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting SHANK3 collected from DrugBank database. |
There is no record. |