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Aliases for SHANK2 Gene

Aliases for SHANK2 Gene

  • SH3 And Multiple Ankyrin Repeat Domains 2 2 3 5
  • Proline-Rich Synapse-Associated Protein 1 3 4
  • Cortactin-Binding Protein 1 3 4
  • ProSAP1 3 4
  • CORTBP1 3 4
  • Proline-Rich Synapse Associated Protein 1 3
  • Cortactin SH3 Domain-Binding Protein 3
  • GKAP/SAPAP Interacting Protein 3
  • Cortactin Binding Protein 1 2
  • KIAA1022 4
  • CTTNBP1 3
  • SPANK-3 3
  • AUTS17 3
  • Shank2 4
  • SHANK 3

External Ids for SHANK2 Gene

Previous HGNC Symbols for SHANK2 Gene

  • CORTBP1

Previous GeneCards Identifiers for SHANK2 Gene

  • GC11M072645
  • GC11M071836
  • GC11M070536
  • GC11M070040
  • GC11M069991
  • GC11M070313
  • GC11M066575

Summaries for SHANK2 Gene

Entrez Gene Summary for SHANK2 Gene

  • 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, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

GeneCards Summary for SHANK2 Gene

SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2) is a Protein Coding gene. Diseases associated with SHANK2 include autism susceptibility 17 and mental retardation, autosomal recessive 48. Among its related pathways are Circadian entrainment and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include SH3 domain binding and GKAP/Homer scaffold activity. An important paralog of this gene is SHANK1.

UniProtKB/Swiss-Prot for SHANK2 Gene

  • 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.

Gene Wiki entry for SHANK2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHANK2 Gene

Genomics for SHANK2 Gene

Regulatory Elements for SHANK2 Gene

Promoters for SHANK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SHANK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SHANK2 Gene

Chromosome:
11
Start:
70,467,856 bp from pter
End:
71,252,738 bp from pter
Size:
784,883 bases
Orientation:
Minus strand

Genomic View for SHANK2 Gene

Genes around SHANK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHANK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHANK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHANK2 Gene

Proteins for SHANK2 Gene

  • Protein details for SHANK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPX8-SHAN2_HUMAN
    Recommended name:
    SH3 and multiple ankyrin repeat domains protein 2
    Protein Accession:
    Q9UPX8
    Secondary Accessions:
    • C0SPG8
    • C0SPG9
    • Q3Y8G9
    • Q52LK2
    • Q9UKP1

    Protein attributes for SHANK2 Gene

    Size:
    1470 amino acids
    Molecular mass:
    158822 Da
    Quaternary structure:
    • Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts with CTTN/cortactin SH3 domain, DLGAP1/GKAP and alpha-latrotoxin receptor 1. Interacts with DNM2, DBNL, GRID2, BAIAP2, SLC9A3, PLCB3 and CFTR. Interacts (via proline-rich region) with PDE4D. Interacts with ABI1 (via SH3 domain).

    Alternative splice isoforms for SHANK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHANK2 Gene

Proteomics data for SHANK2 Gene at MOPED

Post-translational modifications for SHANK2 Gene

  • Glycosylation at Thr 1288
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SHANK2 (SHANK2)

No data available for DME Specific Peptides for SHANK2 Gene

Domains & Families for SHANK2 Gene

Protein Domains for SHANK2 Gene

Suggested Antigen Peptide Sequences for SHANK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UPX8

UniProtKB/Swiss-Prot:

SHAN2_HUMAN :
  • The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3.
  • Belongs to the SHANK family.
Domain:
  • The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the SHANK family.
genes like me logo Genes that share domains with SHANK2: view

Function for SHANK2 Gene

Molecular function for SHANK2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SHANK2: view

Animal Models for SHANK2 Gene

MGI Knock Outs for SHANK2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SHANK2 Gene

Localization for SHANK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHANK2 Gene

Apical cell membrane. Cytoplasm. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, growth cone. Cell projection, dendritic spine. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHANK2 Gene COMPARTMENTS Subcellular localization image for SHANK2 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SHANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005575 cellular_component ND --
GO:0014069 postsynaptic density ISS --
GO:0016324 apical plasma membrane ISS --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SHANK2: view

Pathways & Interactions for SHANK2 Gene

genes like me logo Genes that share pathways with SHANK2: view

Pathways by source for SHANK2 Gene

1 KEGG pathway for SHANK2 Gene
1 GeneGo (Thomson Reuters) pathway for SHANK2 Gene

Gene Ontology (GO) - Biological Process for SHANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030534 adult behavior IMP 20473310
genes like me logo Genes that share ontologies with SHANK2: view

No data available for SIGNOR curated interactions for SHANK2 Gene

Drugs & Compounds for SHANK2 Gene

(2) Drugs for SHANK2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SHANK2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SHANK2: view

Transcripts for SHANK2 Gene

Unigene Clusters for SHANK2 Gene

SH3 and multiple ankyrin repeat domains 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SHANK2 Gene

No ASD Table

Relevant External Links for SHANK2 Gene

GeneLoc Exon Structure for
SHANK2
ECgene alternative splicing isoforms for
SHANK2

Expression for SHANK2 Gene

mRNA expression in normal human tissues for SHANK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHANK2 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x4.6), Brain - Cortex (x4.5), and Brain - Frontal Cortex (BA9) (x4.4).

Protein differential expression in normal tissues from HIPED for SHANK2 Gene

This gene is overexpressed in Brain (39.5) and Spinal cord (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SHANK2 Gene



SOURCE GeneReport for Unigene cluster for SHANK2 Gene Hs.268726

mRNA Expression by UniProt/SwissProt for SHANK2 Gene

Q9UPX8-SHAN2_HUMAN
Tissue specificity: Isoform 3 is present in epithelial colonic cells (at protein level).
genes like me logo Genes that share expression patterns with SHANK2: view

Protein tissue co-expression partners for SHANK2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SHANK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHANK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHANK2 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHANK2 36
  • 86 (a)
OneToOne
SHANK2 35
  • 86.15 (n)
  • 88.77 (a)
dog
(Canis familiaris)
Mammalia SHANK2 35
  • 87.75 (n)
  • 89.94 (a)
SHANK2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shank2 16
Shank2 35
  • 85.84 (n)
  • 89.09 (a)
Shank2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHANK2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHANK2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shank2 35
  • 85.82 (n)
  • 90.1 (a)
chicken
(Gallus gallus)
Aves SHANK2 35
  • 75.4 (n)
  • 82.37 (a)
SHANK2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 77 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.20065 35
tropical clawed frog
(Silurana tropicalis)
Amphibia shank2 35
  • 69.82 (n)
  • 72.42 (a)
zebrafish
(Danio rerio)
Actinopterygii CU681836.2 36
  • 30 (a)
OneToOne
shank2 35
  • 64.98 (n)
  • 65.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prosap 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea shn-1 36
  • 31 (a)
OneToMany
Species with no ortholog for SHANK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SHANK2 Gene

ENSEMBL:
Gene Tree for SHANK2 (if available)
TreeFam:
Gene Tree for SHANK2 (if available)

Paralogs for SHANK2 Gene

Paralogs for SHANK2 Gene

Pseudogenes.org Pseudogenes for SHANK2 Gene

genes like me logo Genes that share paralogs with SHANK2: view

Variants for SHANK2 Gene

Sequence variations from dbSNP and Humsavar for SHANK2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1336 -- 71,134,178(+) GGAGA(G/T)GCAAA intron-variant
rs484904 -- 70,542,477(+) gaatt(C/T)tggcc intron-variant
rs485125 -- 70,627,703(-) tataa(A/G)gcata intron-variant
rs485430 -- 70,756,976(-) CAGAC(A/G)GGGGC intron-variant
rs507819 -- 70,591,990(-) GATGG(C/G/T)GCGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SHANK2 Gene

Variant ID Type Subtype PubMed ID
nsv825985 CNV Gain 20364138
nsv469970 CNV Loss 18288195
nsv897889 CNV Loss 21882294
dgv1216n71 CNV Loss 21882294
nsv897891 CNV Gain 21882294
nsv897892 CNV Loss 21882294
esv259836 OTHER Complex 20981092
esv2744715 CNV Deletion 23290073
esv2658522 CNV Deletion 23128226
nsv524138 CNV Loss 19592680
nsv818850 CNV Loss 17921354
esv2744716 CNV Deletion 23290073
esv2744717 CNV Deletion 23290073
esv2744718 CNV Deletion 23290073
esv2744720 CNV Deletion 23290073
esv2744721 CNV Deletion 23290073
esv2744722 CNV Deletion 23290073
esv2744723 CNV Deletion 23290073
esv1780993 CNV Deletion 17803354
esv997759 CNV Deletion 20482838
nsv509427 CNV Insertion 20534489
nsv380 CNV Insertion 18451855
nsv39143 CNV Loss 16902084
esv2744724 CNV Deletion 23290073
nsv897894 CNV Loss 21882294
nsv897895 CNV Loss 21882294
esv2744725 CNV Deletion 23290073
esv2489106 CNV Insertion 19546169
esv1771073 CNV Insertion 17803354
nsv381 CNV Insertion 18451855
esv993927 CNV Deletion 20482838
nsv825987 CNV Loss 20364138
esv6774 CNV Loss 19470904
esv2663201 CNV Deletion 23128226
esv2744726 CNV Deletion 23290073
esv2744727 CNV Deletion 23290073
nsv510582 CNV Complex 20534489
esv2744728 CNV Deletion 23290073
esv2744729 CNV Deletion 23290073
esv2744731 CNV Deletion 23290073
esv2072312 CNV Deletion 18987734
esv2744732 CNV Deletion 23290073
esv1560771 CNV Deletion 17803354
nsv38686 CNV Loss 16902084
esv8855 CNV Gain 19470904
esv2744733 CNV Deletion 23290073
esv2251549 CNV Deletion 18987734
esv2744734 CNV Deletion 23290073
esv2676850 CNV Deletion 23128226
esv2744735 CNV Deletion 23290073
esv2461530 CNV Deletion 19546169
nsv897896 CNV Gain 21882294
esv24074 CNV Loss 19812545
esv2567606 CNV Insertion 19546169
esv2658655 CNV Deletion 23128226
esv2744736 CNV Deletion 23290073
esv2744737 CNV Deletion 23290073
esv2744738 CNV Deletion 23290073
esv2744739 CNV Deletion 23290073
esv32673 CNV Gain 17666407
esv2744740 CNV Deletion 23290073
esv2665268 CNV Deletion 23128226

Variation tolerance for SHANK2 Gene

Gene Damage Index Score: 6.64; 78.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SHANK2 Gene

HapMap Linkage Disequilibrium report
SHANK2
Human Gene Mutation Database (HGMD)
SHANK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHANK2 Gene

Disorders for SHANK2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SHANK2 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autism susceptibility 17
  • autism 17
mental retardation, autosomal recessive 48
  • mrt48
autism spectrum disorder
  • pervasive development disorder
cornelia de lange syndrome 4
  • cdls4
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SHAN2_HUMAN
  • 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 mental retardation. {ECO:0000269 PubMed:20473310}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for SHANK2

Genetic Association Database (GAD)
SHANK2
Human Genome Epidemiology (HuGE) Navigator
SHANK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SHANK2
genes like me logo Genes that share disorders with SHANK2: view

No data available for Genatlas for SHANK2 Gene

Publications for SHANK2 Gene

  1. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. (PMID: 20473310) Berkel S. … Rappold G.A. (Nat. Genet. 2010) 3 4 48 67
  2. The Shank family of postsynaptic density proteins interacts with and promotes synaptic accumulation of the beta PIX guanine nucleotide exchange factor for Rac1 and Cdc42. (PMID: 12626503) Park E. … Kim E. (J. Biol. Chem. 2003) 3 23
  3. Identification of proteins interacting with the rat somatostatin receptor subtype 2. (PMID: 11087996) Kreienkamp H.J. … Richter D. (J. Physiol. Paris 2000) 3 23
  4. The Shank family of scaffold proteins. (PMID: 10806096) Sheng M. … Kim E. (J. Cell Sci. 2000) 3 23
  5. Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins. (PMID: 10433269) Tu J.C. … Worley P.F. (Neuron 1999) 3 23

Products for SHANK2 Gene

Sources for SHANK2 Gene

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