Gene Gene information from NCBI Gene database.
Entrez ID 22941
Gene name SH3 and multiple ankyrin repeat domains 2
Gene symbol SHANK2
Synonyms (NCBI Gene)
AUTS17CORTBP1CTTNBP1ProSAP1SHANKSPANK-3
Chromosome 11
Chromosome location 11q13.3-q13.4
Summary 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
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs1555013332 ->T Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs1555100912 ->C Likely-pathogenic Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1555100954 G>A Pathogenic Coding sequence variant, stop gained, genic upstream transcript variant
rs1565526121 G>A Likely-pathogenic Coding sequence variant, intron variant, stop gained
rs1565527302 TG>- Pathogenic Coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
551
miRTarBase ID miRNA Experiments Reference
MIRT035822 hsa-miR-1307-3p CLASH 23622248
MIRT053009 hsa-miR-155-5p Luciferase reporter assayqRT-PCR 22797699
MIRT053009 hsa-miR-155-5p Luciferase reporter assayqRT-PCR 22797699
MIRT053009 hsa-miR-155-5p Luciferase reporter assayqRT-PCR 22797699
MIRT053009 hsa-miR-155-5p Luciferase reporter assayqRT-PCR 22797699
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment ISS
GO:0001917 Component Photoreceptor inner segment ISS
GO:0005515 Function Protein binding IPI 11583995, 17474147, 32296183, 32661924
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603290 14295 ENSG00000162105
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
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
EGGFWEGSARGHIGWFPAECVEEV
QCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSD
CIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
RTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVT
VTRNLDPDDTARKKAPPPPKR
APTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQ
RPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGTMRRQKSIDSRIFLSGI
TEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGT
IKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRN
KRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVEDSPEKTCSIPIPTIIVKEP
STSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNS
PAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVG
GAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGNYVHPLTGRLLDPSSPLALA
LSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETE
NKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEM
KPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGSMEEAVILPFRIPPPPLASV
DLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNS
ADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTL
SSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSNALYQDALVEEDVDSFVIPP
PAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKL
AKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYES
RTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDVFSLPSQPPSGDLFGLNPAG
RSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPN
LQKEDLIDLGVTRVGHRMNIERALKQLL
DR
Sequence length 1470
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutamatergic synapse   Neurexins and neuroligins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
168
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
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
Associations from Text MiningDisease associations identified through Pubtator
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