Ask about this productRelated genes to: SPIRE2 Blocking Peptide
- Gene:
- SPIRE2 NIH gene
- Name:
- spire type actin nucleation factor 2
- Previous symbol:
- -
- Synonyms:
- spir-2, KIAA1832
- Chromosome:
- 16q24
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-28
- Date modifiied:
- 2018-11-19
Related products to: SPIRE2 Blocking Peptide
Related articles to: SPIRE2 Blocking Peptide
- We present a large-scale study of structural variation (SV) in the Qatari population, based on short-read whole-genome sequencing (WGS) of 6,141 individuals, identifying 153,946 variants across 5 classes reflecting the region's diversity and evolutionary history. Leveraging consanguinity and biobank phenotypes, we identify >180 putative gene knockouts, and use proteomics to show functional consequences in homozygotes. Conversely, 52 genes show significant depletion of homozygous deletions, eight of which cause severe pediatric disease or murine embryonic lethality. Examining phenotypic extremes uncovers several non-exonic homozygous deletions with large effect, including in SPIRE2 (creatinine), MAGI2 (leanness) and a chr19 microRNA cluster (extreme obesity). Further, SV-GWAS reveals gene-trait associations independent of SNPs, including at ACY1 (acetylation), SLC2A9 (uric acid), UGT1A8 (bilirubin) and ZNF251 (alanine aminotransferase). Notably, 3.2% of Qataris carry findings in medically actionable genes, one-third attributable to SVs. Our findings offer a rich SV reference for a globally understudied population, and demonstrate the utility of consanguineous biobanks for studying SVs in health and disease. All common SVs and tag-SNPs are provided as imputation resource. - Source: PubMed
Publication date: 2026/01/13
Aliyev ElbaySyed NajeebVisconti AlessiaAliyev TaghiBelkadi AzizGhorbani MohammadmersadRossi NiccolòNaeem HaroonGandhi Geethanjali DevadossThareja GauravAl-Maraghi AljaziAamer WaleedIbrahim Amal AbdulsalamShaath RulanAl-Ajli Farooq OmarRazali Rozaimi MohamadSedlazeck Fritz JDavila SoniaAkil AmmiraSuhre KarstenMokrab YounesFalchi MarioFakhro Khalid A - Ulcerative colitis (UC) is a complex chronic inflammatory disease. Centrosome amplification (CA) has been implicated in UC pathogenesis, but its mechanistic role remains unclear. This study aimed to investigate the relevance of centrosome amplification-related genes (CARGs) in UC progression. - Source: PubMed
Publication date: 2025/12/12
Yang ZhenhuanWu XingxingLuo LeiWu XiuxiaWang YuliangHuang TingtingDang ZhongqinNie Shanwen - Spina bifida (SB), a common neural tube defects (NTDs), has a complex genetic architecture that remains incompletely understood. Although prior studies have identified rare, deleterious single nucleotide variants (SNVs) in SB, broader contributions to risk remain unclear. Here, we investigated shared genetic risk among 256 SB probands compared with 395 ancestry-matched controls using an unbiased sequencing approach. - Source: PubMed
Strain MadisonGarrett Melanie EBucklan MaxJasien Joan MWorley GordonGleeson Joseph GAshley-Koch Allison E - The Chinese Tan sheep is a unique breed of sheep that is typical throughout China, mainly used for fur and meat production. They are widely distributed in northwestern China and are famous for their lambskin and shiny white curly wool. In this study, the phenotypic traits of wool length, birth weight, and head coat color were evaluated in 256 Chinese Tan sheep breeds. Whole genome sequencing generated 23.67 million high-quality SNPs for genome-wide association studies (GWAS). We identified 208 significant SNPs associated with birth wool length, implicating , , , , and as potential candidate genes for this trait. For birth weight, 1056 significant SNPs, with 76.89% of them located on chromosome 2, were identified by GWAS, and , , , , , and were identified as potential candidate genes for birth weight. The GWAS for head coat color identified 1424 significant SNPs across three chromosomes, with 99.65% on chromosome 14, and , , and as candidate genes were found to be possibly involved in the development of the black-headed coat color in sheep. Furthermore, we selected head coat color as a representative trait and performed an independent test of our GWAS findings through multiplex PCR SNP genotyping. The findings validated five mutation sites in chromosome 14 (14,251,947 T>A, 14,252,090 G>A, 14,252,158 C>T, 14,252,329 T>G, and 14,252,464 C>T) within the exon1 of the gene (517 bp), as identified by GWAS in an additional 102 Tan sheep individuals, and revealed that black-headed sheep predominantly exhibited heterozygous genotypes, possibly contributing to their color change. Our results provide a valuable foundation for further study of these three economically important traits, and enhance our understanding of genetic structure and variation in Chinese Tan sheep. - Source: PubMed
Publication date: 2024/12/03
Ma LinaZhao WeiMa QingWang JinZhao ZhengweiZhang JuanGu Yaling - PCSK9 inhibitors are a novel class of medications that lower LDL cholesterol (LDL-C) by increasing LDL receptor activity, promoting clearance of LDL-C from the bloodstream. Over the years, PCSK9 inhibitors have been explored as adjunct therapies to statins or as monotherapy in high-risk cardiovascular patients. - Source: PubMed
Publication date: 2024/10/30
Jeswani Bijay MukeshSharma ShubhangiRathore Sawai SinghNazir AbubakarBhatheja RohitKapoor Kapil