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Shank2
Gene Detail
 Symbol
Name
ID
Shank2
SH3/ankyrin domain gene 2
MGI:2671987
Synonyms ProSAP1
Feature Type protein coding gene
Genetic Map
Chromosome 7
88.45 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr7:144001928-144424494 bp, + strand
From VEGA annotation of GRCm38

  422567 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:105965  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Shank2

Human
homologs
Human Homolog SHANK2, SH3 and multiple ankyrin repeat domains 2
NCBI Gene ID 22941
neXtProt AC  NX_Q9UPX8
Human Synonyms  AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
Human Chr (Location)  11q13.2; chr11:70467856-71252537 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SHANK2
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping.
 
Human Diseases Modeled Using Mouse Shank2 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Shank2 interacts with 408 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process adult behavior, exploration behavior, ...
Component apical plasma membrane, brush border membrane, ...
Function ionotropic glutamate receptor binding, protein C-terminus binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (8)    Tissues (2)   
Theiler Stages: 23, 28
Assay TypeResults
RNA in situ 3
RT-PCR 5
cDNA source data(10)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) cDNA(10) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000016451 (Evidence)
Ensembl Gene ModelENSMUSG00000037541 (Evidence)
Entrez Gene210274 (Evidence)
UniGene483624
DFCITC1605685, TC1607454, TC1718143
DoTSDT.101261067, DT.94139817
NIA Mouse Gene IndexU094340
Consensus CDS ProjectCCDS40201.1
International Mouse Knockout Project StatusShank2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016451 VEGA Gene Model | MGI Sequence Detail 422567 C57BL/6J ±  kb
transcript OTTMUST00000039639 VEGA | MGI Sequence Detail 8988 Not Applicable 
polypeptide OTTMUSP00000017693 VEGA | MGI Sequence Detail 1841 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(41) UniProt(3)
Polymorphisms SNPs within 2kb(4441 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:000014832 SH3 and multiple ankyrin repeat domains protein 2
References (Earliest) J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
(Latest) J:202338 Ey E, et al., The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations. Behav Brain Res. 2013 Nov 1;256:677-89
All references(36)
Disease annotation references (4)

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
08/19/2014
MGI 5.19
The Jackson Laboratory