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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

HCOP human homology predictions: SHANK2
Gene Tree: Shank2

Human
homologs
SHANK2, SH3 and multiple ankyrin repeat domains 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 22941
neXtProt AC: NX_Q9UPX8

Human Synonyms: AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3

Human Chr (Location): 11q13.2; chr11:70467856-71252738 (-)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Shank2 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Shank2 interacts with 407 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (37 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 (3)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 3
RT-PCR 5
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase shank2    NEW 
Molecular
reagents
All nucleic(12) cDNA(10) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000016451 (Evidence)
Ensembl Gene Model ENSMUSG00000037541 (Evidence)
Entrez Gene 210274 (Evidence)
UniGene 483624
DFCI TC1607454, TC1605685, TC1718143
DoTS DT.94139817, DT.101261067
NIA Mouse Gene Index U094340
Consensus CDS Project CCDS40201.1
International Mouse Phenotyping Consortium Status Shank2
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:220651 Jung ES, et al., Shank2 mutant mice display a hypersecretory response to cholera toxin. J Physiol. 2014 Apr 15;592(Pt 8):1809-21
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
06/30/2015
MGI 5.22
The Jackson Laboratory