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Aliases for SHANK2 Gene

Aliases for SHANK2 Gene

  • SH3 And Multiple Ankyrin Repeat Domains 2 2 3
  • CORTBP1 3 4 6
  • Proline-Rich Synapse-Associated Protein 1 3 4
  • Cortactin-Binding Protein 1 3 4
  • ProSAP1 3 4
  • AUTS17 3 6
  • SH3 And Multiple Ankyrin Repeat Domains Protein 2 3
  • 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
  • Shank2 4
  • SHANK 3

External Ids for SHANK2 Gene

Previous Symbols for SHANK2 Gene

  • CORTBP1

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 autism spectrum disorder. Among its related pathways are Neuroscience and Circadian entrainment. 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

Genomic Location for SHANK2 Gene

Start:
70,467,856 bp from pter
End:
71,252,577 bp from pter
Size:
784,722 bases
Orientation:
Minus strand

Genomic View for SHANK2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SHANK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHANK2 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr1288

No data available for DME Specific Peptides for SHANK2 Gene

Domains for SHANK2 Gene

Gene Families for SHANK2 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

Protein Domains for SHANK2 Gene

UniProtKB/Swiss-Prot:

SHAN2_HUMAN
Domain:
  • The PDZ domain is required for interaction with GRID2, PLCB3, CFTR and SLC9A3.:
    • Q9UPX8
  • Contains 1 PDZ (DHR) domain.:
    • Q9UPX8
  • Contains 1 SAM (sterile alpha motif) domain.:
    • Q9UPX8
  • Contains 1 SH3 domain.:
    • Q9UPX8
Family:
  • Belongs to the SHANK family.:
    • Q9UPX8
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

Gene Ontology (GO) - Molecular Function for SHANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11583995
GO:0017124 SH3 domain binding IEA --
GO:0030160 GKAP/Homer scaffold activity NAS 10506216
GO:0035255 ionotropic glutamate receptor binding ISS --
genes like me logo Genes that share ontologies with SHANK2: view
genes like me logo Genes that share phenotypes with SHANK2: view

Animal Models for SHANK2 Gene

MGI Knock Outs for SHANK2:

miRNA for SHANK2 Gene

miRTarBase miRNAs that target SHANK2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 3
plasma membrane 3
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for SHANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment ISS --
GO:0005575 cellular_component ND --
GO:0005883 colocalizes_with neurofilament ISS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with SHANK2: view

Pathways for SHANK2 Gene

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

Pathways by source for SHANK2 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SHANK2 Gene
1 Cell Signaling Technology pathway for SHANK2 Gene
1 KEGG pathway for SHANK2 Gene

Gene Ontology (GO) - Biological Process for SHANK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007416 synapse assembly ISS 22699620
GO:0007612 learning IMP 20473310
GO:0007613 memory IEA --
GO:0030534 adult behavior IMP 20473310
GO:0035176 social behavior IMP 20473310
genes like me logo Genes that share ontologies with SHANK2: view

Compounds for SHANK2 Gene

(4) Novoseek inferred chemical compound relationships for SHANK2 Gene

Compound -log(P) Hits PubMed IDs
glutamate 50.7 9
nmda 50.2 4
inositol 1,4,5 trisphosphate 43.8 2
calcium 6.25 4
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) (4.6), Brain - Cortex (4.5), and Brain - Frontal Cortex (BA9) (4.4).

Integrated Proteomics: protein expression 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 expressions with SHANK2: view

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 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHANK2 36
  • 86.15 (n)
  • 88.77 (a)
SHANK2 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SHANK2 36
  • 87.75 (n)
  • 89.94 (a)
SHANK2 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shank2 36
  • 85.84 (n)
  • 89.09 (a)
Shank2 16
Shank2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHANK2 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHANK2 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shank2 36
  • 85.82 (n)
  • 90.1 (a)
chicken
(Gallus gallus)
Aves SHANK2 36
  • 75.4 (n)
  • 82.37 (a)
SHANK2 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 77 (a)
OneToMany
-- 37
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.20065 36
tropical clawed frog
(Silurana tropicalis)
Amphibia shank2 36
  • 69.82 (n)
  • 72.42 (a)
zebrafish
(Danio rerio)
Actinopterygii CU681836.2 37
  • 30 (a)
OneToOne
shank2 36
  • 64.98 (n)
  • 65.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Prosap 37
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea shn-1 37
  • 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 MAF
rs1281 -- 70,676,828(+) GCCCC(A/G)GTGAC intron-variant
rs1336 -- 71,134,178(+) GGAGA(G/T)GCAAA intron-variant
rs471116 -- 70,645,321(-) GCCTC(A/C)GACCA intron-variant
rs471179 -- 70,591,996(+) ccatc(C/G)cactc intron-variant
rs471859 -- 70,647,992(-) TTCTA(A/G)CTTAT 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

Relevant External Links for SHANK2 Gene

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

Disorders for SHANK2 Gene

(1) OMIM Diseases for SHANK2 Gene (603290)

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.

(2) University of Copenhagen DISEASES for SHANK2 Gene

Relevant External Links for SHANK2

Genetic Association Database (GAD)
SHANK2
Human Genome Epidemiology (HuGE) Navigator
SHANK2
genes like me logo Genes that share disorders with SHANK2: view

Publications for SHANK2 Gene

  1. The Shank family of scaffold proteins. (PMID: 10806096) Sheng M. … Kim E. (J. Cell Sci. 2000) 3 4 23
  2. Characterization of the shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. (PMID: 10506216) Lim S. … Kim E. (J. Biol. Chem. 1999) 2 3 4
  3. 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 49
  4. Functional impact of global rare copy number variation in autism spectrum disorders. (PMID: 20531469) Pinto D. … Betancur C. (Nature 2010) 3 49
  5. Identification of proteins interacting with the rat somatostatin receptor subtype 2. (PMID: 11087996) Kreienkamp H.J. … Richter D. (J. Physiol. Paris 2000) 3 23

Products for SHANK2 Gene

Sources for SHANK2 Gene

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