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SHANK2 information


SHANK2
Identifiers
AliasesSHANK2, AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3, SH3 and multiple ankyrin repeat domains 2
External IDsOMIM: 603290; MGI: 2671987; HomoloGene: 105965; GeneCards: SHANK2; OMA:SHANK2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012309
NM_133266
NM_001379226

NM_001081370
NM_001113373

RefSeq (protein)

NP_036441
NP_573573
NP_001366155

NP_001074839
NP_001106844

Location (UCSC)Chr 11: 70.47 – 71.25 MbChr 7: 143.56 – 143.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene.[5][6] Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined.[6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162105 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037541 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M, Kim E (October 1999). "Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development". The Journal of Biological Chemistry. 274 (41): 29510–8. doi:10.1074/jbc.274.41.29510. PMID 10506216.
  6. ^ a b "Entrez Gene: SHANK2 SH3 and multiple ankyrin repeat domains 2".

and 18 Related for: SHANK2 information

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SHANK2

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repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. Two alternative splice variants, encoding distinct isoforms, are reported...

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Shank

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genus Tringa Shankh, a quantity in the Indian numbering system SHANK1, SHANK2, and SHANK3, types of protein Bud Shank, an American saxophonist Christopher...

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SH3 domain

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(potentially) STAC3 Some myosins SH3 and multiple ankyrin repeat domains: SHANK1, SHANK2, SHANK3 YAP1 ARHGAP12 vexin (VXN) TANGO1 Integrase Focal Adhesion Kinase...

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Gudrun Rappold

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Hartmut; Sprengel, Rolf; Scherer, Stephen W. (2010-06-01). "Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation"...

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Glutamate receptor

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receptors and autism was also identified via the structural protein ProSAP1 SHANK2 and potentially ProSAP2 SHANK3. The study authors concluded that the study...

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Causes of autism

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disorders defined by genetics. One gene that has been linked to autism is SHANK2. Mutations in this gene act in a dominant fashion. Mutations in this gene...

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PDZ domain

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RAPGEF2 RGS12 RGS3 RHPN1 RIL RIMS1 RIMS2 SCN5A SCRIB SDCBP SDCBP2 SHANK1 SHANK2 SHANK3 SHROOM2 SHROOM3 SHROOM4 SIPA1 SIPA1L1 SIPA1L2 SIPA1L3 SLC9A3R1 SLC9A3R2...

Word Count : 3565

DLG4

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KCNA2 KCNA4 KCNA5 KCNJ12 Kir2.1 LGI1 LRP1 LRP2 NLGN1 NOS1 PTK2B SEMA4C and SHANK2. Postsynaptic density GRCh38: Ensembl release 89: ENSG00000132535 – Ensembl...

Word Count : 2725

Ankyrin repeat

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PPP1R13L; PPP1R16A; PPP1R16B; PSMD10; RAI14; RFXANK; RIPK4; RNASEL; SHANK1; SHANK2; SHANK3; SNCAIP; TA-NFKBH; TEX14; TNKS; TNKS2; TNNI3K; TP53BP2; TRP7; TRPA1;...

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DLGAP1

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protein called guanylate kinase-associated protein (GKAP). GKAP binds to the SHANK2 and PSD-95 proteins, facilitating the assembly of the post-synaptic density...

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SHANK1

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SHANK2 is located on chromosome 11, and SHANK3 on chromosome 22. The locus of SHANK1, in particular, is less studied in relation to ASD than SHANK2 and...

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ARHGEF7

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activated via DHPH RhoGEF domain. The neuronal synapse adaptors SHANK1, SHANK2, and SHANK3 via PDZ Scribble via PDZ SNX27 via PDZ Rho family of GTPases...

Word Count : 1716

Cortactin

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Cortactin has been shown to interact with: ACTR3 ARPC2, CTNND1, FER, KCNA2, SHANK2, WASL, and WIPF1. actin gelsolin transferrin villin ENSG00000288401 GRCh38:...

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DLGAP2

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channels. As with many other synaptic genes, including its binding partner Shank2, DLGAP2 has been shown to be associated with Autism. ENSG00000282152, ENSG00000282318...

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Somatostatin receptor 2

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cognitive functions. Somatostatin receptor 2 has been shown to interact with SHANK2. The somatostatin hormone itself can negatively affect the uptake of hormones...

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Eunjoon Kim

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State University". Eunjoon, Kim (2012). "Autistic-like social behavior in Shank2-mutant mice improved by restoring NMDA receptor function". Nature. 486 (7402):...

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Sterile alpha motif

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SAMD7; SAMD8; SAMD9; SARM1; SCMH1; SCML1; SCML2; SEC23IP; SGMS1; SHANK1; SHANK2; SHANK3; STARD13; UBP1; USH1G; ZCCHC14; p63; p73; Bork P, Ponting CP, Hofmann...

Word Count : 835

DNM2

Last Update:

has not been determined. DNM2 has been shown to interact with: SHANK1, SHANK2, and SNX9. Mutations in this gene have been associated to cases of acute...

Word Count : 1264

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