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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UPX8 |
| Protein name |
SH3 and multiple ankyrin repeat domains protein 2 (Shank2) (Cortactin-binding protein 1) (CortBP1) (Proline-rich synapse-associated protein 1) |
| Protein 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 pla |
| PDB |
8ATJ
, 8B10
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF07653 |
SH3_2 |
151 → 204 |
Variant SH3 domain |
Domain |
| PF17820 |
PDZ_6 |
285 → 339 |
PDZ domain |
Domain |
| PF00536 |
SAM_1 |
1405 → 1468 |
SAM domain (Sterile alpha motif) |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Isoform 3 is present in epithelial colonic cells (at protein level). {ECO:0000269|PubMed:16293618, ECO:0000269|PubMed:17244609}. |
| Sequence |
MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTA TSHRSLSPQLLQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGS PFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSD CIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL RTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKR APTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQ RPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGTMRRQKSIDSRIFLSGI TEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGT IKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRN KRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVEDSPEKTCSIPIPTIIVKEP STSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNS PAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVG GAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGNYVHPLTGRLLDPSSPLALA LSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETE NKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEM KPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGSMEEAVILPFRIPPPPLASV DLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNS ADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTL SSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSNALYQDALVEEDVDSFVIPP PAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKL AKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYES RTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDVFSLPSQPPSGDLFGLNPAG RSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPN LQKEDLIDLGVTRVGHRMNIERALKQLLDR
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| Sequence length |
1470 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autism spectrum disorder |
Likely pathogenic; Pathogenic |
rs2134275196, rs1565527302 |
RCV001825309 RCV000754680 |
| Autism, susceptibility to, 17 |
Likely pathogenic; Pathogenic |
rs2058899044, rs2134275180, rs2135739220, rs2135822551, rs1555094999, rs2503513136, rs2499554758, rs2495469105, rs1555013332, rs2495749734, rs2495592820, rs2495470269, rs2135751909 |
RCV001532873 RCV001528114 RCV001533143 RCV001775357 RCV004796718 RCV002466367 RCV002470090 RCV002470217 RCV000209931 RCV004334150 RCV004334151 RCV003507991 RCV001813820 |
| Global developmental delay |
Pathogenic |
rs2058786429 |
RCV002272793 |
| Intellectual disability |
Likely pathogenic; Pathogenic |
rs2058899044 |
RCV001328494 |
| Neurodevelopmental disorder |
Likely pathogenic; Pathogenic |
rs1555094999 |
RCV002273236 |
| Rare disease with autism |
Likely pathogenic; Pathogenic |
rs2134275196, rs2495465726 |
RCV002287509 RCV002287589 |
| See cases |
Likely pathogenic |
rs2135665193 |
RCV002252482 |
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autism |
Conflicting classifications of pathogenicity; Benign; Uncertain significance |
rs117843717, rs149996975, rs782240808, rs146580493, rs113262375, rs11237599 |
RCV000590889 RCV000590925 RCV000590963 RCV000590881 RCV000590954 RCV000590913 |
| Complex neurodevelopmental disorder |
Benign; Likely benign |
rs756656381 |
RCV005356023 |
| Schizophrenia |
not provided |
rs1565526722 |
RCV000709912 |
| SHANK2-related Complex neurodevelopmental disorder |
Uncertain significance |
rs781809082 |
RCV002266648 |
| SHANK2-related disorder |
Likely benign; not provided; Uncertain significance; Conflicting classifications of pathogenicity; Benign |
rs1410224441, rs1160968406, rs781801712, rs1555154683, rs782614044, rs1555149133, rs141184740, rs529058522, rs189053721, rs781962815, rs1951535084, rs1555153185, rs1555075725, rs2502057442, rs782183599, rs2495590982, rs115978536, rs782236024, rs1591494187, rs2495770404, rs2495471429, rs2058620789, rs536469118, rs1050306196, rs374802574, rs566666627, rs141716902, rs2495510022, rs781915318, rs2499620359, rs1555095007, rs1453448675, rs2501751842, rs187315247, rs200821952, rs7926203, rs756656381, rs201663845 View all (23 more) |
RCV004536160 RCV001825162 RCV004538977 RCV004529719 RCV004536749 RCV004538955 RCV004536795 RCV004544518 RCV004544519 RCV004532013 RCV004534464 RCV004539421 RCV004539435 RCV004542631 RCV004531958 RCV004537094 RCV004540921 RCV004534696 RCV004544119 RCV004544126 RCV004539489 RCV004532235 RCV004543970 RCV004532204 RCV004542330 RCV004542361 RCV004543929 RCV004532089 RCV004544149 RCV004540886 RCV004540900 RCV004542482 RCV004540801 RCV004540780 RCV004537724 RCV004544520 RCV004535622 RCV004544738 |
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| Disease Name |
Relationship Type |
References |
| Acute Lung Injury |
Associate |
22295056 |
| Alzheimer Disease |
Associate |
37302762 |
| Anorexia |
Associate |
29991577 |
| Autism Spectrum Disorder |
Associate |
22346768, 22503632, 26485544, 29934968, 29991577, 30763456, 30911184, 32796005, 33483523, 34356069, 35456494 |
| Autistic Disorder |
Associate |
20531469, 22346768, 27897003, 29991577, 35042901 |
| Carcinogenesis |
Associate |
22761904, 32796005 |
| Carcinoma Hepatocellular |
Associate |
31698564 |
| Carcinoma Renal Cell |
Associate |
36231770 |
| Carcinoma Renal Cell |
Inhibit |
36231770 |
| Developmental Disabilities |
Associate |
33483523, 35456494 |
| Esophageal Squamous Cell Carcinoma |
Associate |
18405350, 22761904, 32252688 |
| Fibrosis |
Associate |
34370624 |
| Glioblastoma |
Associate |
35456975 |
| Glioma |
Associate |
35456975 |
| Hypersensitivity Delayed |
Associate |
35456494 |
| Intellectual Disability |
Associate |
22503632, 33483523, 35042901, 35456494 |
| Language Development Disorders |
Associate |
35456494 |
| Mental Disorders |
Associate |
22346768, 30976086 |
| Neoplasms |
Inhibit |
33915956 |
| Neoplasms |
Associate |
36231770 |
| Neuroblastoma |
Inhibit |
32796005 |
| Neuroblastoma |
Associate |
33915956 |
| Obsessive Compulsive Disorder |
Associate |
29991577 |
| Prostatic Neoplasms |
Associate |
25864488 |
| Retinoblastoma |
Associate |
22457763 |
| Tongue Neoplasms |
Associate |
28939077 |
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