SHOC2

Leucine-rich repeat protein SHOC-2 is a protein that in humans is encoded by the SHOC2 gene.[5][6][7][8] Mutations that result in lipidation (specifically Myristoylation) of SHOC2 can cause Noonan syndrome.[9]

SHOC2
Identifiers
AliasesSHOC2, SIAA0862, SOC2, SUR8, SHOC2 leucine-rich repeat scaffold protein, leucine rich repeat scaffold protein, SHOC2 leucine rich repeat scaffold protein
External IDsOMIM: 602775 MGI: 1927197 HomoloGene: 7219 GeneCards: SHOC2
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10q25.2Start110,919,547 bp[1]
End111,013,667 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8036

56392

Ensembl

ENSG00000108061

ENSMUSG00000024976

UniProt

Q9UQ13

O88520

RefSeq (mRNA)

NM_001269039
NM_007373
NM_001324336
NM_001324337

NM_001168505
NM_019658
NM_001355242

RefSeq (protein)

NP_001255968
NP_001311265
NP_001311266
NP_031399

NP_001161977
NP_062632
NP_001342171

Location (UCSC)Chr 10: 110.92 – 111.01 MbChr 19: 53.94 – 54.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions

SHOC2 has been shown to interact with C-Raf[7] and HRAS.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000108061 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024976 - 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. Selfors LM, Schutzman JL, Borland CZ, Stern MJ (Jul 1998). "soc-2 encodes a leucine-rich repeat protein implicated in fibroblast growth factor receptor signaling". Proc. Natl. Acad. Sci. U.S.A. 95 (12): 6903–8. doi:10.1073/pnas.95.12.6903. PMC 22679. PMID 9618511.
  6. Sieburth DS, Sun Q, Han M (Aug 1998). "SUR-8, a conserved Ras-binding protein with leucine-rich repeats, positively regulates Ras-mediated signaling in C. elegans". Cell. 94 (1): 119–30. doi:10.1016/S0092-8674(00)81227-1. PMID 9674433. S2CID 13102676.
  7. Li W, Han M, Guan KL (May 2000). "The leucine-rich repeat protein SUR-8 enhances MAP kinase activation and forms a complex with Ras and Raf". Genes Dev. 14 (8): 895–900. PMC 316541. PMID 10783161.
  8. "Entrez Gene: SHOC2 soc-2 suppressor of clear homolog (C. elegans)".
  9. Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M (Sep 2009). "Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair". Nature Genetics. 41 (9): 1022–6. doi:10.1038/ng.425. PMC 2765465. PMID 19684605.

Further reading


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