ALS2CR12
- Known as:
- ALS2CR12
- Catalog number:
- 001497A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ALS2CR12
Related genes to: ALS2CR12
- Gene:
- FLACC1 NIH gene
- Name:
- flagellum associated containing coiled-coil domains 1
- Previous symbol:
- ALS2CR12
- Synonyms:
- -
- Chromosome:
- 2q33.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-01-26
- Date modifiied:
- 2019-02-25
Related products to: ALS2CR12
Related articles to: ALS2CR12
- Genome-wide association studies (GWAS) of melanoma have identified numerous susceptibility loci. However, causal genes and variants underlying risk have yet to be established for most. It is becoming apparent that many functional variants underlying complex traits act via -regulation that may be context-specific, dependent on availability of specific transcription factors/complexes in specific cell types and cell-states. To characterize a risk locus on chromosome band 2q33.1 associated with melanoma, breast cancer, and keratinocyte cancers, we integrated fine-mapping, cell-type specific expression quantitative trait locus (eQTL) analysis, a massively parallel reporter assay, individual luciferase assays, and SNP-based proteomics. Integrated analysis implicates the presence of multiple functional variants lying primarily within a promoter for . A haplotype containing rs3769823 appeared have the largest effect on expression. Strikingly, both tumor/normal context and this risk-associated haplotype play critical roles in mediating allelic -regulatory activity. Quantitative mass spectrometry for rs3769823 identified both E4F1, a transcriptional repressor, and IRF2, a transcriptional activator, as binding preferentially to risk-associated rs3969823-A. The binding of these transcription factors was validated via EMSA, supershift, and chromatin immunoprecipitation (ChIP) assays. The relative levels of E4F1 and IRF2 differ by cell-type and play a role in mediating transcriptional activity in a cell-type specific manner. Our results indicate that the top credible causal set variant rs3769823 likely influences expression of and in a cell-type specific manner and may be a relevant functional variant for multiple cancers associated with this locus. - Source: PubMed
Publication date: 2026/01/06
Kong HyunkyungChoi JiyeonZhang TongwuGräwe CathrinXu MaiThakur RohitSowards HayleyHennessey Rebecca CVu AndrewShi JianxinBishop D TimothyNewton-Bishop JuliaNsengimana JeremieIles Mark MLandi Maria TeresaVermeulen MichielLaw Matthew HAmundadottir Laufey T Brown Kevin M - Cardiac autonomic neuropathy (CAN) is a complication of diabetes mellitus (DM) that increases the risk of morbidity and mortality by disrupting cardiac innervation. Recent evidence suggests that CAN may manifest even before the onset of DM, with prediabetes and metabolic syndrome potentially serving as precursors. This study aims to identify genetic markers associated with CAN development in the Kazakh population by investigating the SNPs of specific genes. - Source: PubMed
Publication date: 2024/05/09
Bekenova NaziraSibagatova AinurAitkaliyev AlisherVochshenkova TamaraKassiyeva BalzhanBenberin Valeriy - - Source: PubMed
Publication date: 2020/11/06
Chotiner Jessica YLeu N AdrianWang P Jeremy - Infertility affects 10-15% of couples, and approximately 50% of cases are linked to male factor infertility. The purpose of this study was to evaluate the DNA methylation patterns in spermatozoa from males who are suffering from a reduction in fecundity. Thirty samples were subjected to 450K arrays as a screening study to evaluate the variation in sperm DNA methylation levels between cases and controls groups, and then four CpG sites (cg05799088, cg07227024, cg16338278, and cg08408433) underwent to deep bisulfite sequencing to validate the observed methylation differences in 111 samples (56 proven fertile males as 'controls' and 55 males suffering from a reduction in fecundity as 'cases'). A significant difference in the mean methylation level was found between cases and controls in the CpGs of PRICKLE2 gene-related amplicon (CpG1, p ≤ 0.002, and CpG2, p ≤ 0.004) and CpG of ALS2CR12 gene-related amplicon (CpG1, p ≤ 0.015, and CpG2, p ≤ 0.009). Besides, a significant difference was found at seven from thirteen CpGs tested in the ALDH3B2 gene amplicon CpG2, CpG6, CpG9, CpG10, CpG11, CpG12, and CpG13 (p ≤ 0.005, p ≤ 0.004, p ≤ 0.012, p ≤ 0.028, p ≤ 0.012, p ≤ 0.009, and p ≤ 0.001, respectively). In addition, the results showed that nine CpGs out of the twenty-six within the PTGIR gene-related amplicon (CpG4, CpG6, CpG8, CpG9, CpG11, CpG15, CpG19, CpG23, and CpG26) had a significant difference in their mean methylation level (p ≤ 0.006, p ≤ 0.009, p ≤ 0.003, p ≤ 0.003, p ≤ 0.007, p ≤ 0.002, p ≤ 0.018, p ≤ 0.018, and p ≤ 0.040, respectively) in the case vs. - Source: PubMed
Publication date: 2017/05/23
Laqqan MTierling SAlkhaled YLo Porto CSolomayer E FHammadeh M - In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR=0.76, P=4.7 × 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P=1.5 × 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P=3.5 × 10(-12)) and 10p14 GATA3 (rs73635312[A], OR=0.74, P=2.4 × 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained. - Source: PubMed
Publication date: 2015/04/09
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