Mus musculus Gene: Shank3
Summary
InnateDB Gene IDBG-174485.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Shank3
Gene Name SH3/ankyrin domain gene 3
Synonyms AI841104; Shank3b; SHANK3c-3; SHANK3c-4
Species Mus musculus
Ensembl Gene ENSMUSG00000022623
Encoded Proteins
SH3/ankyrin domain gene 3
SH3/ankyrin domain gene 3
SH3/ankyrin domain gene 3
SH3/ankyrin domain gene 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000251322:
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:89499623-89560261
Strand Forward strand
Band E3
Transcripts
ENSMUST00000039074 ENSMUSP00000048062
ENSMUST00000066545 ENSMUSP00000064477
ENSMUST00000109309 ENSMUSP00000104932
ENSMUST00000135214
ENSMUST00000154240
ENSMUST00000123799
ENSMUST00000167173 ENSMUSP00000132229
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008270 zinc ion binding
GO:0017124 SH3 domain binding
GO:0030160 GKAP/Homer scaffold activity
GO:0035255 ionotropic glutamate receptor binding
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0097110 scaffold protein binding
Biological Process
GO:0000165 MAPK cascade
GO:0001838 embryonic epithelial tube formation
GO:0007416 synapse assembly
GO:0007612 learning
GO:0007613 memory
GO:0021773 striatal medium spiny neuron differentiation
GO:0032232 negative regulation of actin filament bundle assembly
GO:0035176 social behavior
GO:0035641 locomotory exploration behavior
GO:0045794 negative regulation of cell volume
GO:0048170 positive regulation of long-term neuronal synaptic plasticity
GO:0048854 brain morphogenesis
GO:0050885 neuromuscular process controlling balance
GO:0051259 protein oligomerization
GO:0051835 positive regulation of synapse structural plasticity
GO:0051968 positive regulation of synaptic transmission, glutamatergic
GO:0060997 dendritic spine morphogenesis
GO:0060999 positive regulation of dendritic spine development
GO:0061001 regulation of dendritic spine morphogenesis
GO:0071625 vocalization behavior
GO:0097107 postsynaptic density assembly
GO:0097113 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering
GO:0097114 N-methyl-D-aspartate receptor clustering
GO:0097117 guanylate kinase-associated protein clustering
GO:1900271 regulation of long-term synaptic potentiation
GO:1900451 positive regulation of glutamate receptor signaling pathway
GO:1900452 regulation of long term synaptic depression
GO:2000463 positive regulation of excitatory postsynaptic membrane potential
GO:2000821 regulation of grooming behavior
GO:2000822 regulation of behavioral fear response
GO:2000969 positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
Cellular Component
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0030054 cell junction
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0044309 neuron spine
GO:0045211 postsynaptic membrane
GO:0060076 excitatory synapse
GO:0060170 ciliary membrane
GO:0097481 neuronal postsynaptic density
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.146855
RefSeq NM_021423 XM_006521221 XM_006521222 XM_006521223
OMIM
CCDS CCDS27754
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas