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 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Shank3

Alleles and phenotypes

All alleles(12) : Targeted(12)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (54 annotations)

Process	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering, brain morphogenesis, ...
Component	cell junction, cilium membrane, ...
Function	GKAP/Homer scaffold activity, identical protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (10)    Tissues (2)   
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	3
Western blot	2
RT-PCR	5

cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(22) cDNA(21) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000024288 (Evidence)
Ensembl Gene Model	ENSMUSG00000022623 (Evidence)
Entrez Gene	58234 (Evidence)
UniGene	146855
DFCI	TC1585574, TC1597630
DoTS	DT.101134700, DT.60105052
PDB	3O5N
Consensus CDS Project	CCDS27754.1
International Mouse Knockout Project Status	Shank3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024288	VEGA Gene Model | MGI Sequence Detail	60639	C57BL/6J
transcript	OTTMUST00000059483	VEGA | MGI Sequence Detail	7365	Not Applicable
polypeptide	OTTMUSP00000028933	VEGA | MGI Sequence Detail	1805	Not Applicable

All sequences(45) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(118 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192363 Olexova L, et al., Animal models of autism with a particular focus on the neural basis of changes in social behaviour: an update article. Neurosci Res. 2012 Dec;74(3-4):184-94
All references(41)

Other accession IDs

MGI:2146068