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 cattle; 1 dog; 1 chicken; 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; chr11:70313961-70935808 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SHANK2

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Component	brush border membrane, cell junction, ...
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 Type	Results
RNA in situ	3
RT-PCR	5

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1605685, TC1607454, TC1718143
DoTS	DT.101261067, DT.94139817
NIA Mouse Gene Index	U094340
Consensus CDS Project	CCDS40201.1
International Mouse Knockout Project Status	Shank2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016451	VEGA Gene Model | MGI Sequence Detail	422567	C57BL/6J
transcript	OTTMUST00000039639	VEGA | MGI Sequence Detail	8988	Not Applicable
polypeptide	OTTMUSP00000017693	VEGA | MGI Sequence Detail	1841	Not Applicable

All sequences(38) RefSeq(5) UniProt(3)

Polymorphisms

SNPs(711 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: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:186719 Schmeisser MJ, et al., Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature. 2012 Jun 14;486(7402):256-60
All references(33)