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Shank3
Gene Detail
 Symbol
Name
ID
Shank3
SH3/ankyrin domain gene 3
MGI:1930016
Synonyms ProSAP2
Feature Type protein coding gene
Genetic Map
Chromosome 15
44.96 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr15:89499623-89560261 bp, + strand
From VEGA annotation of GRCm38

  60639 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:75163  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Shank3

Human
homologs
Human Homolog SHANK3, SH3 and multiple ankyrin repeat domains 3
NCBI Gene ID 85358
neXtProt AC  NX_Q9BYB0
Human Synonyms  DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
Human Chr (Location)  22q13.3; chr22:50674642-50733212 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human SHANK3
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Radiation induced(1) Targeted(12)
Genomic Mutations involving Shank3 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a targeted allele that deletes isoforms alpha and beta and reduce isoform gamma exhibit over-grooming resulting in skin lesions, increased anxiety-related behavior, social withdrawal, abnormal medium spiny neuron morphology, and abnormal synpatic transmission.
 
Human Diseases Modeled Using Mouse Shank3 (1)    Alleles Annotated to Human Diseases(4)   
Interactions
Shank3 interacts with 311 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (65 annotations)
Process adult behavior, alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering, ...
Component cell, cell junction, ...
Function actin binding, GKAP/Homer scaffold activity, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (10)    Tissues (3)   
Theiler Stages: 23, 27, 28
Assay TypeResults
RNA in situ 3
Western blot 2
RT-PCR 5
cDNA source data(16)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(18) cDNA(17) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000024288 (Evidence)
Ensembl Gene ModelENSMUSG00000022623 (Evidence)
Entrez Gene58234 (Evidence)
UniGene146855
DFCITC1585574, TC1597630
DoTSDT.101134700, DT.60105052
PDB3O5N
Consensus CDS ProjectCCDS27754.1
International Mouse Knockout Project StatusShank3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024288 VEGA Gene Model | MGI Sequence Detail 60639 C57BL/6J ±  kb
transcript OTTMUST00000059483 VEGA | MGI Sequence Detail 7365 Not Applicable 
polypeptide OTTMUSP00000028933 VEGA | MGI Sequence Detail 1805 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(12) UniProt(5)
Polymorphisms SNPs within 2kb(195 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR001478 PDZ domain
InterPro IPR001452 Src homology-3 domain
InterPro IPR001660 Sterile alpha motif domain
InterPro IPR013761 Sterile alpha motif/pointed domain
InterPro IPR021129 Sterile alpha motif, type 1
InterPro IPR011511 Variant SH3
Protein Ontology PR:000014833 SH3 and multiple ankyrin repeat domains protein 3
References (Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:206790 Drapeau E, et al., Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. Dis Model Mech. 2014 Mar 20;
All references(48)
Disease annotation references (6)
Other
accession IDs
MGI:2146068

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory