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Shank3 SH3 and multiple ankyrin repeat domains 3 [ Mus musculus (house mouse) ]

Gene ID: 58234, updated on 19-Feb-2024

Summary

Official Symbol
Shank3provided by MGI
Official Full Name
SH3 and multiple ankyrin repeat domains 3provided by MGI
Primary source
MGI:MGI:1930016
See related
Ensembl:ENSMUSG00000022623 AllianceGenome:MGI:1930016
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Spank-2; proSAP2
Summary
Enables ionotropic glutamate receptor binding activity; protein C-terminus binding activity; and scaffold protein binding activity. A structural constituent of postsynaptic density. Involved in several processes, including learning or memory; modulation of chemical synaptic transmission; and postsynapse organization. Acts upstream of or within several processes, including MAPK cascade; negative regulation of actin filament bundle assembly; and regulation of AMPA glutamate receptor clustering. Located in glutamatergic synapse and neuron spine. Is extrinsic component of cytoplasmic side of plasma membrane. Is expressed in brain and cerebral cortex. Used to study Phelan-McDermid syndrome; autism spectrum disorder; and schizophrenia. Human ortholog(s) of this gene implicated in Phelan-McDermid syndrome and schizophrenia 15. Orthologous to human SHANK3 (SH3 and multiple ankyrin repeat domains 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 45.6), adrenal adult (RPKM 22.3) and 20 other tissues See more
Orthologs
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Genomic context

See Shank3 in Genome Data Viewer
Location:
15 E3; 15 44.96 cM
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (89376929..89444464)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (89493013..89560261)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene RIKEN cDNA C230037L18 gene Neighboring gene arylsulfatase A Neighboring gene STARR-seq mESC enhancer starr_39466 Neighboring gene predicted gene 15609 Neighboring gene predicted gene, 36221 Neighboring gene acrosin prepropeptide

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables G protein-coupled receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables SH3 domain binding ISO
Inferred from Sequence Orthology
more info
 
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables ionotropic glutamate receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ionotropic glutamate receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein self-association ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables scaffold protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables scaffold protein binding ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
enables structural constituent of postsynaptic density IEP
Inferred from Expression Pattern
more info
PubMed 
enables structural constituent of postsynaptic density IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables structural constituent of postsynaptic density ISO
Inferred from Sequence Orthology
more info
 
enables synaptic receptor adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables synaptic receptor adaptor activity ISO
Inferred from Sequence Orthology
more info
 
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in AMPA glutamate receptor clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within MAPK cascade IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in NMDA glutamate receptor clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adult behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in associative learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in brain morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within dendritic spine morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dendritic spine morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic epithelial tube formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in exploration behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in guanylate kinase-associated protein clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in learning ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within learning or memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in locomotion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in locomotory exploration behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in long-term synaptic depression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in long-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
involved_in modulation of chemical synaptic transmission IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in modulation of chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell volume IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural precursor cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of AMPA receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of dendritic spine development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of excitatory postsynaptic potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of glutamate receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of glutamate receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of long-term neuronal synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of long-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of synapse structural plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of synaptic transmission, glutamatergic IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in postsynaptic density assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of AMPA glutamate receptor clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of behavioral fear response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of dendritic spine morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of grooming behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of long-term synaptic depression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of long-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynapse organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to interleukin-17 IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in social behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in striatal medium spiny neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in synapse assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocal learning ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocalization behavior ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in excitatory synapse IC
Inferred by Curator
more info
PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuron spine IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 
located_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 
is_active_in postsynaptic density, intracellular component ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
SH3 and multiple ankyrin repeat domains protein 3
Names
SH3/ankyrin domain gene 3
proline-rich synapse-associated protein 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021423.4NP_067398.3  SH3 and multiple ankyrin repeat domains protein 3

    Status: VALIDATED

    Source sequence(s)
    AC122401, AC137513
    Consensus CDS
    CCDS27754.1
    UniProtKB/Swiss-Prot
    F8S0X0, F8S0X2, F8S0X3, F8S0X5, F8S0X6, Q4ACU6, Q69ZD8, Q9JJZ3, S6BMD3, S6CCV8
    Related
    ENSMUSP00000104932.3, ENSMUST00000109309.9
    Conserved Domains (8) summary
    cd09506
    Location:17381803
    SAM_Shank1,2,3; SAM domain of Shank1,2,3 family proteins
    COG0666
    Location:200392
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    PRK12323
    Location:12041428
    PRK12323; DNA polymerase III subunit gamma/tau
    cd00992
    Location:647736
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00045
    Location:257288
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:329410
    Ank_2; Ankyrin repeats (3 copies)
    cl17036
    Location:548599
    SH3; Src Homology 3 domain superfamily
    cl28922
    Location:83169
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    89376929..89444464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006521222.4XP_006521285.3  SH3 and multiple ankyrin repeat domains protein 3 isoform X1

    UniProtKB/Swiss-Prot
    F8S0X0, F8S0X2, F8S0X3, F8S0X5, F8S0X6, Q4ACU6, Q69ZD8, Q9JJZ3, S6BMD3, S6CCV8
    Conserved Domains (7) summary
    COG0666
    Location:200392
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    PRK12323
    Location:12041428
    PRK12323; DNA polymerase III subunit gamma/tau
    cd00992
    Location:647736
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00045
    Location:257288
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:329410
    Ank_2; Ankyrin repeats (3 copies)
    cl17036
    Location:548599
    SH3; Src Homology 3 domain superfamily
    cl28922
    Location:83169
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  2. XM_017316717.3XP_017172206.2  SH3 and multiple ankyrin repeat domains protein 3 isoform X2

    Conserved Domains (6) summary
    cd11984
    Location:548599
    SH3_Shank3; Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 3
    COG0666
    Location:200392
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    cd00992
    Location:647736
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    sd00045
    Location:257288
    ANK; ANK repeat [structural motif]
    cd17177
    Location:83169
    FERM_F0_SHANK3; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in SH3 and multiple ankyrin repeat domains protein 3 (SHANK3)
    pfam12796
    Location:329410
    Ank_2; Ankyrin repeats (3 copies)