2024 Shoc2 gene

Shoc2 gene

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August undefined, 2024

WebData suggest that Shoc2 regulates the spatio-temporal patterns of the Ras-ERK signaling pathway primarily by accelerating the Ras-Raf interaction. no evidence of leukemogenic … Web5 Mar 2024 · genes in panel. prev next actb 2 actg1 1 alpl 4 alx4 4 arsb 2 asxl1 5 b3gat3 4 braf 2 cdc45 5 chd7 2 colec11 3 ctsk 3 cyp26b1 3 efnb1 4 erf 4 fam20c 3 fgfr1 4 fgfr2 4 fgfr3 4 flna 4 gli3 3 gnas 4 gnptab 4 hnrnpk 3 huwe1 3 ids 4 idua 4 ift122 4 ihh 4 il11ra 4 jag1 3 kat6a 4 kmt2d 3 kras 3 ltbp1 3 megf8 3 msx2 4 nfia 4 p4hb 2 phex 4 por 4 ptch1 3 …

SHOC2 - Wikipedia

WebSHOC2 Gene. SHOC2. Name. soc-2 suppressor of clear homolog (C. elegans) Description. This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. WebName Identifier Synonyms; Noonan syndrome : DOID:3490 Turner's phenotype, karyotype normal (disorder) chronic myeloid leukemia proportion of variability statcrunch

Gene: SHOC2 (Hypertrophic cardiomyopathy) - Genomics England

Webgenes in panel. prev next alk 4 apc 3 atm 3 blm 3 bmpr1a 2 brca1 2 brca2 2 brip1 2 bub1b 3 cbl 4 cdc73 2 cdkn1c 3 ctr9 2 ddb2 2 dicer1 3 dis3l2 4 elp1 1 ercc2 2 ercc3 2 ercc4 3 … WebSHOC2 Leucine Rich Repeat Scaffold Protein Gene Mutation; Soc-2 Suppressor of Clear Homolog Gene Mutation; SOC2 Gene Mutation; SUR8 Gene Mutation Definition A change … Web19 Jun 2024 · RASopathiesGene: SHOC2. Green List (high evidence) SHOC2 (SHOC2, leucine rich repeat scaffold protein) EnsemblGeneIds (GRCh38): ENSG00000108061. … proportion of population with disability

ZFIN Gene: shoc2 - Zebrafish Information Network

Mutation analysis of the SHOC2 gene in Noonan-like syndrome …

WebThe recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair. We report five patients with this mutation. All had skin hyperpigmentation, … Web30 Sep 2010 · Journal of Human Genetics - Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies Skip to main content Thank you … proportion of salary on mortgageWebA key phosphatase that mediates this dephosphorylation step is a heterotrimeric complex composed of MRAS, SHOC2, and protein phosphatase 1 (PP1) ().SHOC2 is a ubiquitously expressed protein composed almost exclusively of leucine-rich repeats (LRRs) that was originally identified in Caenorhabditis elegans as a positive modulator of the ERK pathway … proportion of women in uk workforce

"Web17 Jun 2008 · Waterfall plot of ratio of log (base 2) post- versus preintervention of SHOC2 gene expression comparing microarray (filled bars) to the mean of three independent replicate QRT-PCR (cross-hatched bars) measurements. No QRT-PCR data are shown for 14 of the 30 patients for whom insufficient needle biopsy RNA was available, precluding … " - Shoc2 gene

Shoc2 gene

Entry - *602775 - SHOC2 LEUCINE-RICH REPEAT SCAFFOLD …

Web1 Jun 2024 · The SHOC2 gene affects proliferation, survival, and differentiation of epithelial stem cell-derived cells in hair follicles; however, the relationship between SHOC2 mutations and the other cutaneous pathologies seen specifically in NS/LAH remains unclear. 7. WebSHOC2 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SHOC2 Genome Browser, SHOC2 References SHOC2 - Explore an overview of SHOC2, with a …

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WebFurthermore, in tumor cells with Ras gene mutations, inhibition of SHOC2 expression inhibits MAPK, but not PI3K activity. The SHOC2-PP1c holoenzyme provides an attractive therapeutic target for inhibition of the MAPK pathway in cancer. Recent studies show that aberrantly acquired N-myristoylation of SHOC2 causes human disease Noonan-like ... Web28 Jan 2010 · Cordeddu et al recently reported the discovery of a specific SHOC2 gene mutation underlying a variant of the neuro-cardio-facio-cutaneous (NCFC) syndrome family. 1 The common denominator of mutations associated with this group of disorders is their involvement in the dysregulation of the Ras–mitogen-activated protein kinase (MAPK) …

Web5 Mar 2024 · The c.519G>A (p.Met173Ile) variant in the SHOC2 gene has been observed in a proband with clinical features of a RASopathy (PS4 not met; GeneDx GTR Lab ID:26957 … Web27 Jul 2024 · Based on a systems biology approach that identified SHOC2 as a candidate gene, Cordeddu et al. (2009) sequenced SHOC2 coding exons in a Noonan syndrome …

WebThe only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair. Here, we report a novel … Webgenes in panel. prev next acan 2 anapc1 1 ankrd11 2 blm 2 braf 1 brca2 1 brip1 1 cbl 1 ccdc8 2 cdkn1c 2 cep57 3 cog4 1 cul7 2 ercc4 1 fanca 1 fancb 1 fancc 1 fancd2 1 fance 1 fancf …

Web15 Jun 2024 · A nine-gene panel including BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, and SHOC2 was used in this study. Our data show that the gene-specific pattern of overall variant contribution has ...

Leucine-rich repeat (LRR) protein SHOC-2 is a protein that in humans is encoded by the SHOC2 gene. The best-studied role of SHOC2 is in modulating signals of the extracellular signal-regulated kinase 1 and 2 (ERK1/2) pathway by forming a holophosphatase complex that activates RAF proteins(PMID 16630891, 33526449). This protein was initially identified in Caenorhabditis elegans as SUR-8/SOC2 and was found to be a critical positive regulator of the ERK1/2 signaling pathwa… proportion of variation explainedWeb17 Jun 2024 · The role of Shoc2 in normal physiology Given the critical implications of ERK1/2 signals for a number of cellular processes, several studies have explored the biological significance of Shoc2 in embryonic development. request for vote and support in englishWebFull gene name according to HGNC. SHOC2 leucine rich repeat scaffold protein. Gene namei. Official gene symbol, which is typically a short form of the gene name, according … proportion online gamesWebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site. proportion of variance 意味Web25 Mar 2024 · Variants in SHOC2 Penetrance Complete Panels with this gene. Childhood solid tumours Severe Paediatric Disorders Rare syndromic craniosynostosis or isolated … request for verification of employment sampleWeb19 Jun 2024 · RASopathiesGene: SHOC2. Green List (high evidence) SHOC2 (SHOC2, leucine rich repeat scaffold protein) EnsemblGeneIds (GRCh38): ENSG00000108061. EnsemblGeneIds (GRCh37): ENSG00000108061. OMIM: 602775, Gene2Phenotype. SHOC2 is in 16 panels. Reviews (3) Details. proportion or mean sample sizeWebThe scaffold protein Shoc2 is a critical modulator of ERK1/2 signals, and mutations in the shoc2 gene lead to the human developmental disease known as Noonan-like syndrome with loose anagen hair ... proportion of variance explained calculator