Ctnna2
WebA number sign (#) is used with this entry because of evidence that complex cortical dysplasia with other brain malformations-12 (CDCBM12) is caused by homozygous or compound heterozygous mutations in the CAMSAP1 gene ( 613774) on chromosome 9q34. WebNM_001282597.3(CTNNA2):c.1800T>C (p.Val600=) Cite this record. Cite this record Close. Copy. Help Interpretation: Benign Review status: criteria provided, multiple submitters, no conflicts Submissions: 2 First in ClinVar: ...
Ctnna2
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WebBrain proteome. GENERAL INFORMATIONi. 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. Human gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC . CTNNA2. WebNov 29, 2024 · Is expressed in several structures, including alimentary system; nervous system; reproductive system; respiratory system; and sensory organ. Human ortholog (s) of this gene implicated in complex cortical dysplasia with other brain malformations. Orthologous to human CTNNA2 (catenin alpha 2). [provided by Alliance of Genome …
WebMay function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Regulates … WebSong J et al. Novel-miR-4885 Promotes Migration and Invasion of Esophageal Cancer Cells Through Targeting CTNNA2. DNA Cell Biol N/A:N/A (2024). PubMed: 30526004; Paul C …
WebJul 22, 2011 · Highlights Human CTNNA1 and CTNNA2 genes contain alternative 5′ exons. These exons share bidirectional promoters with LRRTM2 and LRRTM1 genes. Alternative 5′ exon CTNNA1 and CTNNA2 mRNAs are expressed at high levels in the brain. N-terminally truncated CTNNA proteins are produced from these alternative CTNNA mRNAs. WebCtnna2: Name: catenin alpha 2: RGD ID: 1305060: Description: Predicted to enable actin filament binding activity and identical protein binding activity. Predicted to be involved in several processes, including modification of postsynaptic actin cytoskeleton; negative regulation of Arp2/3 complex-mediated actin nucleation; and nervous system ...
WebJul 1, 2012 · Two synonymous coding variants not listed in dbSNP nor 1000 Genomes, were detected in CTNNA2 or LRRTM1 and eight missense variants (five not listed in dbSNP nor 1000 Genomes) were detected in CTNNA2 or LRRTM1. GERP (Genomic Evolutionary Rate Profiling) scores ranged from -9.44 to 4.35. These variants segregate in only part of the …
WebAug 26, 2024 · AlphaN-catenin gene CTNNA2 has been implicated in intrauterine brain development, as well as in several psychiatric disorders and cardiovascular diseases. Our present aim was to investigate CTNNA2 gene-wide associations of single-nucleotide polymorphisms (SNPs) with psychiatric and cardiovascular risk factors to test the … residential heating winston salem ncWebJul 16, 2024 · Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here we identify bi-allelic truncating mutations in CTNNA2, encoding αN-catenin, in patients with a distinct recessive form of pachygyria.CTNNA2 was expressed in human cerebral cortex, and its loss in neurons … protein bar recipe wheyWebCTNNA2 was expressed in human cerebral cortex, and its loss in neurons led to defects in neurite stability and migration. The αN-catenin paralog, αE-catenin, acts as a switch … residential hero and pace marketsWebRelevance to Autism. Biallelic variants in the CTNNA2 gene were identified in seven individuals from three consanguineous families presenting with a syndrome … residential historical abuse program bcWebOct 8, 2013 · CTNNA2 and CTNNA3 mutations in larynx cancer. To better understand the molecular pathogenesis of HNSCC and to minimize the known biological and molecular … residential highest and best useWebApr 27, 2005 · CTNNA2 mRNA was concentrated in both granular/stellate cells and large pyramidal cell bodies, while CTNNB1 expression was more strongly associated with … protein bar recipe with oatmealWebJan 10, 2024 · Complete information for CTNNA2-AS1 gene (RNA Gene), CTNNA2 Antisense RNA 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium residential hepa whole house air cleaner