SHANK2
entrez
22941
canonical
uniprot
Q9UPX8
canonical
ensembl
ENSG00000162105
resolver
ensp
ENSP00000345193
resolver
ensp
ENSP00000469689
resolver
ensp
ENSP00000499270
resolver
ensp
ENSP00000499561
resolver
ensp
ENSP00000586094
resolver
ensp
ENSP00000586095
resolver
ensp
ENSP00000586096
resolver
ensp
ENSP00000586097
resolver
enst
ENST00000338508
resolver
enst
ENST00000659264
resolver
genesymbol
CORTBP1
resolver
genesymbol
SHANK2
resolver
genesymbol_syn
CORTBP1
resolver
genesymbol_syn
KIAA1022
resolver
genesymbol_syn
PROSAP1
resolver
hgnc
HGNC:14295
resolver
uniprot
A0A590UJ45
resolver
uniprot
A0ACM8QDE2
resolver
uniprot
A6NHU9
resolver
uniprot
C0SPG8
resolver
uniprot
C0SPG9
resolver
uniprot
C0SPH0
resolver
uniprot
Q3Y8G9
resolver
uniprot
Q52LK2
resolver
uniprot
Q9UKP1
resolver
uniprot_entry
A0A590UJ45_HUMAN
resolver
uniprot_entry
A0ACM8QDE2_HUMAN
resolver
uniprot_entry
A6NHU9_HUMAN
resolver
uniprot_entry
SHAN2_HUMAN
resolver
uniprot_sec
C0SPG8
resolver
uniprot_sec
C0SPG9
resolver
uniprot_sec
C0SPH0
resolver
uniprot_sec
Q3Y8G9
resolver
uniprot_sec
Q52LK2
resolver
uniprot_sec
Q9UKP1
resolver
amino_acid_sequence
MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCTLTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKITKMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYHTAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQACRYGHVQHLEHLLFYGADMSAQNASGNTALHICALYNQDSCARVLLFRGGNKELKNYNSQTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKRAPTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQRPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGTMRRQKSIDSRIFLSGITEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGTIKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRNKRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVEDSPEKTCSIPIPTIIVKEPSTSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNSPAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVGGAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGNYVHPLTGRLLDPSSPLALALSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETENKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEMKPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGSMEEAVILPFRIPPPPLASVDLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNSADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTLSSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSNALYQDALVEEDVDSFVIPPPAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKLAKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYESRTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDVFSLPSQPPSGDLFGLNPAGRSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPNLQKEDLIDLGVTRVGHRMNIERALKQLLDR
uniprot
proteins
disease_involvement
DISEASE: Autism 17 (AUTS17) [MIM:613436]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. {ECO:0000269|PubMed:20473310}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction.
uniprot
proteins
mass_dalton
201261
uniprot
proteins
protein_family
SHANK family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
10506216
uniprot
proteins
pubmed
10806096
uniprot
proteins
pubmed
11583995
uniprot
proteins
pubmed
12504591
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16293618
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17244609
uniprot
proteins
pubmed
20473310
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
30500825
uniprot
proteins
sequence_length
1849
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Synapse {ECO:0000250}. Postsynaptic density {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with cortactin in growth cones in differentiating hippocampal neurons. Colocalized with PDE4D to the apical membrane of colonic crypt cells (By similarity). {ECO:0000250}.
uniprot
proteins