Bos taurus Gene: SHANK3
Summary
InnateDB Gene IDBG-642826.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SHANK3
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000030180
Encoded Proteins
SH3 and multiple ankyrin repeat domains 3
SH3 and multiple ankyrin repeat domains 3
SH3 and multiple ankyrin repeat domains 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 5:120169084-120217092
Strand Forward strand
Band
Transcripts
ENSBTAT00000042578 ENSBTAP00000040212
ENSBTAT00000023459 ENSBTAP00000023459
ENSBTAT00000063666 ENSBTAP00000055909
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0035255 ionotropic glutamate receptor binding
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: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:0005886 plasma membrane
GO:0043005 neuron projection
GO:0044309 neuron spine
Orthologs
Species
Mus musculus
Homo sapiens
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas