• Gene id: 22941

Gene Summary

• Gene Symbol: SHANK2   Gene   UCSC   Ensembl
• Aliases: AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
• Gene name: SH3 and multiple ankyrin repeat domains 2
• Alternate names: SH3 and multiple ankyrin repeat domains protein 2, GKAP/SAPAP interacting protein, cortactin SH3 domain-binding protein, cortactin-binding protein 1, proline-rich synapse associated protein 1,
• Gene location: 11q13.3-q13.4 (71252723: 70467853)     Exons: 30     NC_000011.10
• Gene summary(Entrez): This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, inc
• OMIM: 603290

Protein Summary

• Protein general information: Q9UPX8  
  • Name: SH3 and multiple ankyrin repeat domains protein 2 (Shank2) (Cortactin binding protein 1) (CortBP1) (Proline rich synapse associated protein 1)
  • Length: 1470  
  • Mass: 158822
  • Tissue specificity: Isoform 3 is present in epithelial colonic cells (at protein level). {ECO
• Sequence:

  MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMP
  SKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGR
  LFVAVKPYQPQVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFR
  HYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
  RTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTTALTLRSKSMTS
  ELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVP
  GSPKAPFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPT
  TYNCPKSPTPRVYGTIKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRN
  KRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSME
  IDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDEDVGLGPPAPRTRPSMFPEE
  GDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGNYVHP
  LTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETE
  NKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSE
  TEGALQISAAPEPTTVPGRTIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAA
  SVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHL
  ETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSNALYQDALVEEDVDSFVIPP
  PAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPMGAKS
  ASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAA
  TASPSPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHK
  EAFMDNEIDGSHLPNLQKEDLIDLGVTRVGHRMNIERALKQLLDR

• Structural information:
  • Protein Domains: (147..20-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (247..34-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (1407..147-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR001478  IPR041489  IPR036034  IPR001660  IPR013761   IPR036028  IPR001452  
  • Prosite: PS50106 PS50105 PS50002
  • DIP: 52255
  • STRING: ENSP00000469689
• Other Databases: GeneCards:  SHANK2  Malacards:  SHANK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000463	positive regulation of excitatory postsynaptic potential	IBA	biological process
GO:0060999	positive regulation of dendritic spine development	IBA	biological process
GO:0060291	long-term synaptic potentiation	IBA	biological process
GO:0051968	positive regulation of synaptic transmission, glutamatergic	IBA	biological process
GO:0051124	synaptic growth at neuromuscular junction	IBA	biological process
GO:0048854	brain morphogenesis	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IBA	molecular function
GO:0030425	dendrite	IBA	cellular component
GO:0030159	signaling receptor complex adaptor activity	IBA	molecular function
GO:0008328	ionotropic glutamate receptor complex	IBA	colocalizes with
GO:2000311	regulation of AMPA receptor activity	IBA	biological process
GO:0097107	postsynaptic density assembly	IBA	biological process
GO:0060997	dendritic spine morphogenesis	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	colocalizes with
GO:0044309	neuron spine	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0030160	synaptic receptor adaptor activity	IBA	molecular function
GO:0014069	postsynaptic density	IBA	cellular component
GO:0007416	synapse assembly	IBA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035255	ionotropic glutamate receptor binding	ISS	molecular function
GO:0005883	neurofilament	ISS	colocalizes with
GO:0008328	ionotropic glutamate receptor complex	ISS	colocalizes with
GO:0035176	social behavior	IMP	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0060291	long-term synaptic potentiation	ISS	biological process
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0007416	synapse assembly	ISS	biological process
GO:0007612	learning	IMP	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0030534	adult behavior	IMP	biological process
GO:0031526	brush border membrane	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0045211	postsynaptic membrane	ISS	colocalizes with
GO:0060170	ciliary membrane	ISS	cellular component
GO:0060292	long-term synaptic depression	ISS	biological process
GO:0071625	vocalization behavior	IMP	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030160	synaptic receptor adaptor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse

Diseases

Associated diseases	References
Autism	KEGG:H02111
Autism	KEGG:H02111
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray