2024 Shoc2 gene

Shoc2 gene

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August undefined, 2024

Web19 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. WebFull 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 …

SHOC2 protein expression summary - The Human Protein …

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. 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 … pregnancy medicaid texas doctors

SHOC2–MRAS–PP1 complex positively regulates RAF activity and ... - PNAS

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 … WebA 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 … WebPredicted to be part of protein phosphatase type 1 complex. Used to study Noonan syndrome-like disorder with loose anagen hair and RASopathy. Human ortholog (s) of this gene implicated in Noonan syndrome-like disorder with loose anagen hair 1. Orthologous to human SHOC2 (SHOC2 leucine rich repeat scaffold protein). Genome Resources. pregnancy medical dictionary

NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) AND Noonan …

SHOC2 - Wikipedia

WebSoc-2 suppressor of clear homolog (SHOC2) is a gene that encodes a protein that functions in the RAS/ERK MAP kinase signaling pathway as a scaffold linking Ras to downstream … 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 … pregnancy medication class melatoninWeb15 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 ... pregnancy medicaid texas eligibility

"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, … " - Shoc2 gene

Shoc2 gene

Expression of SHOC2 in cancer - Summary - The Human Protein …

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 … WebSHOC2. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Official gene symbol, which is typically a short form of the gene name, according to HGNC. Full gene name according to HGNC.

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Web17 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. 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 …

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 … WebSoc-2 suppressor of clear homolog (SHOC2) is a gene that encodes a protein that functions in the RAS/ERK MAP kinase signaling pathway as a scaffold linking Ras to downstream signal transducers.

WebUsed to study Noonan syndrome-like disorder with loose anagen hair and RASopathy. Human ortholog(s) of this gene implicated in Noonan syndrome-like disorder with loose … http://www.informatics.jax.org/marker/MGI:1927197

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.

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 ... pregnancy medicaid texas online applicationLeucine-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… scotch plains therapeuticWebThe .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. pregnancy medical history form pregnancy medical negligence claims berkshireWebData 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 … pregnancy medical history documentationWebSHOC2 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SHOC2 Genome Browser, SHOC2 References SHOC2 - Explore an overview of SHOC2, with a … pregnancy medicaid with other insuranceWeb27 Jun 2024 · Gene: SHOC2 (Primary lymphoedema) Panels Primary lymphoedema SHOC2 Primary lymphoedema Gene: 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 … pregnancy medication safety database