Ask about this productRelated genes to: P4HA2 antibody
- Gene:
- P4HA2 NIH gene
- Name:
- prolyl 4-hydroxylase subunit alpha 2
- Previous symbol:
- -
- Synonyms:
- C-P4Halpha(II)
- Chromosome:
- 5q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-02-23
- Date modifiied:
- 2016-10-05
Related products to: P4HA2 antibody
Related articles to: P4HA2 antibody
- Although milk biosynthesis relies intricately on amino acid metabolism, the key regulatory amino acids and their molecular mechanisms remain incompletely elucidated. Here, targeted metabolomics identified l-proline (l-Pro) as a key differential serum metabolite between high- and low-yielding dairy cows. In vitro, l-Pro significantly promoted bovine mammary epithelial cell proliferation and milk fat and protein synthesis. Mechanistically, following cellular uptake via the SNAT2 transporter, l-Pro binds to the prolyl 4-hydroxylase subunit alpha 2 (P4HA2). This interaction promotes mTOR lysosomal translocation and activates the mTORC1 signaling pathway. Furthermore, in vivo feeding trials showed that rumen-protected l-Pro significantly increased milk production and quality in midlactation cows. In summary, this study unveils a novel mechanism whereby l-Pro regulates milk synthesis via the SNAT2-P4HA2-mTORC1 axis, identifying potential intervention targets for enhancing the dairy cow production performance. - Source: PubMed
Publication date: 2026/05/13
Sun MingyangLi QuanSun MingLi FengWang JiaxinGe YusongLiu YuhaoGuo WenjinBi JunlongLiu JuxiongYin HongbinCao YuFu Shoupeng - Ovarian cancer is a particularly lethal malignancy often diagnosed at advanced stages, highlighting the urgent need for novel therapeutic strategies. This study investigates the expression and functional role of LINC00240, miR-30c-5p, and P4HA2 in ovarian cancer pathogenesis. Using datasets GSE66957 and the GEPIA database, we assessed LINC00240 expression levels and employed quantitative real-time polymerase chain reaction (qRT-PCR) to evaluate the expression of LINC00240, miR-30c-5p, and P4HA2 in ovarian cancer samples. Bioinformatics analysis via TargetScan software predicted interactions between these molecules, which were validated through dual-luciferase reporter assays. Functional assays, including colony formation and Transwell assays, assessed the impact of LINC00240 and miR-30c-5p on cell proliferation, migration, and invasion. Our results indicate that LINC00240 and P4HA2 are significantly overexpressed, while miR-30c-5p is downregulated in ovarian cancer. Furthermore, LINC00240 modulates ovarian cancer malignancy by regulating P4HA2 expression through binding with miR-30c-5p. These findings elucidate the role of the LINC00240/miR-30c-5p/P4HA2 axis in ovarian cancer and suggest new avenues for targeted therapeutic interventions. - Source: PubMed
Tian YunjieWu JianleiZhang HaiBo - : Early-onset high myopia (eoHM), defined as high myopia manifesting before 10 years of age, is largely attributed to genetic defects. This study aimed to investigate the genetic underpinnings of eoHM in a cohort of Chinese patients. : We recruited 64 Chinese patients with eoHM. Comprehensive clinical evaluations were performed, and whole exome sequencing (WES) was conducted to identify potential pathogenic variants. The genetic findings were analyzed and correlated with the clinical phenotypes. : A total of 64 unrelated Chinese patients with suspected early-onset high myopia were initially recruited. Following whole exome sequencing (WES) and variant annotation, final 37 patients with variants in known myopia-associated genes were included in the analytical cohort. The mean age of onset for the cohort was 5 years (IQR, 4-7), with a mean spherical equivalent refraction of -7 D (IQR, (-8)-(-6)). Genetic analysis revealed variants in 28 known myopia-associated genes. We identified pathogenic or likely pathogenic variants in 11 of the 37 patients (29.7%, 95%CI: 0.1737-0.4590), while the overall diagnostic yield was 17.2% (11/64, 95%CI: 0.0970-0.2839) in initial 64 recruited patients. These genes included seven well-established eoHM-related genes, such as ARR3, CACNA1F, P4HA2, TRPM1, COL11A1, COL2A1, and PAX6. Additionally, variants of uncertain significance (VUS) in seven other candidate genes were detected in patients with eoHM. : Our findings expand the genetic spectrum of eoHM and reinforce the critical role of genetic testing in its etiological diagnosis and clinical management. Observed patterns of genotype-phenotype associations are descriptive and should be considered hypothesis-generating, requiring validation in larger cohorts. Additionally, we identify several candidate genes that may serve as prospective biomarkers, though these findings require validation in larger cohorts and functional studies. - Source: PubMed
Publication date: 2026/03/29
Liu XueChu HuihuiSun YaruZhao HaixiaYu Jifeng - 4-Hydroxyproline (4Hyp) is crucially important for the collagen triple helix formation and its thermal stability. It is catalyzed by collagen prolyl 4-hydroxylases that are αβ tetramers of two identical catalytic α-subunits (encoded by P4HA1, P4HA2 and P4HA3) and two β-subunits that are protein disulfide isomerases. The functions of isoenzymes I and II (P4HA1 and P4HA2) are widely studied but very little is currently known about P4HA3. Here we show that P4ha1 is generally the most abundant isoform in mouse, whereas P4ha3 expression is tissue and developmental stage specific. P4ha3 expression is highest in the developing skeletal system and peaks at E12.5 together with the other isoforms. Postnatal P4ha3 expression is low and mainly present in calvaria, lung, heart and muscle. The P4ha3 expression virtually disappears at or after 1 week of age in all tissues studied. To evaluate the P4HA3 function in collagen synthesis, we produced cells that lack P4HA3 (P4ha3) and cells that have P4HA3 as the only isoform (P4ha1;P4ha2) by CRISPR/Cas9. C-P4H activity assays indicated no 4Hyp formation in type I collagen by the P4ha1;P4ha2 cells, suggesting that the remaining isoform P4HA3 does not participate in type I collagen synthesis. The P4ha3 cells secreted intact pepsin-resistant collagen that had similar 4Hyp content and melting temperature as WT collagen. Secreted collagen also assembled into supramolecular collagen fibrils. In conclusion, our results provide new insights into collagen biosynthesis and suggest that prolyl 4-hydroxylation of type I collagen is mediated by P4HA1 and P4HA2 but not by P4HA3. - Source: PubMed
Publication date: 2026/04/16
Karjalainen EmmaRappu PekkaIzzi ValerioMiinalainen IlkkaHeino JyrkiMyllyharju JohannaSalo Antti M - Enteric methane emissions from ruminants represent a significant contributor to agricultural greenhouse gases, necessitating precise genetic tools to guide mitigation strategies. This study aimed to identify genomic regions and estimate heritability parameters associated with methane-related traits in cattle through an integrated meta-analytical framework. The meta-analysis of the genome-wide association studies (meta-GWAS) was carried out with the METAL software, combining SNP level data extracted from published studies. Simultaneously, a distinct random effects meta-analysis of genomic and pedigree-based heritability estimates was performed using Comprehensive Meta-Analysis software. Functional analysis of the post-GWAS, including: Gene Ontology, KEGG, and network-based enrichment analysis, was also performed to describe the biological context of significant genes. The meta-GWAS identified 74 significant SNPs that were significant for the traits of methane, which are related to 113 candidate genes. Functional enrichment analyses revealed pathways related to metabolism, immune response, ion transport, and host-microbiome interactions. The KEGG metabolic pathway emerged as a highly enriched term, encompassing key genes such as: ALDH7A1, CYP51A1, P4HA2, and SHPK, which are involved in amino acid catabolism, lipid processing, and redox regulation functions critical to energy balance and digestive efficiency. Network analysis with Cytoscape has revealed TRPV3, TRPV1, ANK3, PKD2 and SHPK as network hub genes. Heritability meta-analysis indicated that methane production exhibited the moderate genomic (h2 = 0.296) and pedigree-based (h2 = 0.299) heritability estimations, and methane yield was also found to have moderate and high heritability. The findings highlight the potential for methane-related traits as viable targets for genetic selection. This research demonstrates the value of integrating functional genomics and quantitative genetic approaches to enhance understanding of the biological and heritable components of methane emissions, providing a robust foundation for an environmentally sustainable livestock breeding program. - Source: PubMed
Publication date: 2026/04/10
Golpasand SareGhavi Hossein-Zadeh NavidGhovvati Shahrokh