Ask about this productRelated genes to: RPESP antibody
- Gene:
- SBSPON NIH gene
- Name:
- somatomedin B and thrombospondin type 1 domain containing
- Previous symbol:
- C8orf84
- Synonyms:
- RPESP
- Chromosome:
- 8q21.11
- Locus Type:
- gene with protein product
- Date approved:
- 2009-01-09
- Date modifiied:
- 2015-11-09
Related products to: RPESP antibody
Related articles to: RPESP antibody
- The development of musical abilities, including absolute pitch, musical memory, rhythm sense, and musicality, at a high degree is determined by a hereditary component (up to 68 %). The studies implementing a genome-wide linkage and association approach to musical aptitude have revealed more than 100 genetic loci. This spectrum is comprised of the genes encoding for transcription factors and those responsible for neurogenesis and synaptic plasticity, genes fixed as a result of positive selection of musicality, and those related to inner ear formation. Since no studies linking musical aptitude with genes have been previously conducted in Russia, the present study aimed at replicating the association of 17 previously identified genetic variants with developing musical abilities in Russians. Genotyping of SNPs in the GATA2, PCDH7, UNC5C, ASAP1, SBSPON, DCBLD2, KALRN, VLDLR, OTOF, GRIN2B, FoxP1, FoxP2, BDNF, EGR1, and SNCA genes was performed using competitive allele-specific PCR in a sample of students who underwent rigorous contest selection at admission to the conservatory and in the corresponding control group. A series of logistic regression analyses were used both to evaluate the main effect of SNP and to identify the best prognostic model based on various loci. The mathematical model obtained by including only statistically significant SNPs consisted of GATA2 rs9854612, SNCA rs356168, rs3910105, ASAP1 rs3057, and VLDLR rs1454626 (р = 0.0018, pseudo r2 = 0.188, AUC = 0.791). The addition of all examined SNPs as predictors enabled the construction of a statistically significant model with a higher predictive ability (р = 0.012, pseudo r2 = 0.380, AUC = 0.889). The results revealed indicate a potential cumulative gene effect, confirming the involvement of dopaminergic and GABAergic neurotransmission, the reelin pathway and the role of alpha-synuclein in musicality formation. - Source: PubMed
Kazantseva A VToropova A VKhusnutdinova E KMalykh S B - The study for the first time evaluates the association of the Somatomedin B and Thrombospondin Type 1 Domain Containing () gene with Type 2 Diabetes Mellitus (T2DM) in the Northwest Indian population. The present study investigates the expression profile of the gene, the association of variant rs2291219 with T2DM and its potential functional impact and relationship with leukocyte telomere length. - Source: PubMed
Publication date: 2026/04/16
Sethi IttyBhat Gh RasoolRai EktaSharma SwarkarKotwal SumanMahajan AnkitKumar ParvinderDhar Manoj K - Diabetic kidney disease (DKD) is a severe global complication of diabetes, yet its molecular mechanisms remain incompletely understood. This study aimed to investigate the role of protein glycosylation in DKD pathogenesis and its association with gene expression changes, with the goal of identifying diagnostic biomarkers and personalized therapeutic targets. - Source: PubMed
Publication date: 2025/08/18
Liu ZiyangQin ZengyuanBai WenxinWang ShashaHuang ChunlingLi NaYan LeiGu YueShao Fengmin - Bladder cancer poses severe threats to human health due to its aggressive nature and resistance to drug treatment; however, the underlying mechanisms have not been fully investigated. In the present study, we identify SBSPON (Somatomedin B and Thrombospondin Type 1 Domain Containing) as a novel tumor suppressor. The expression of SBSPON was downregulated in bladder cancer and correlated with poor overall survival. SBSPON suppressed the proliferation and migration ability of bladder cancer cells , and inhibited tumor growth of bladder cancer cells . Genetic ablation of in mice significantly accelerated the progression of N-butyl-N-(4-hydroxybutyl)-nitrosamine (BBN) induced bladder cancer. Mechanistically, SBSPON is a novel HSPA5 binding glycoprotein. SBSPON functioned through binding to HSPA5 and inhibiting its membrane translocation, resulting in an inactivated AKT signaling pathway. More importantly, SBSPON inhibited the cisplatin resistance of bladder cancer cells by reducing the inhibitory effect of HSPA5 on apoptosis. In summary, the novel glycoprotein SBSPON functions as a tumor suppressor and inhibits resistance to cisplatin in bladder cancer. This may provide novel therapeutic strategies for bladder cancer treatment. - Source: PubMed
Publication date: 2025/07/11
Ni BeibeiLi ShiZhao LanGao LinLuo LiyaZhang JunwenXie XinaZhu YuqiYang WeiMin ShashaWang YanLi XianxinCai ZhimingSpeakman John RLi Zesong - Peripartum cardiomyopathy (PPCM) is a form of heart failure that develops in the late stages of pregnancy or early postpartum. It accounts for 60% of deaths due to pregnancy-related cardiogenic shock, making it a significant cause of maternal mortality. Known risk factors include advanced maternal age, multiple gestation, African descent, preeclampsia, low socioeconomic status, and diabetes. Genetic factors, including truncating mutations in the TTN gene, have also been implicated in increasing susceptibility to PPCM. This narrative review synthesizes the literature from 2005 to 2025, examining both clinical and preclinical studies on genetic risk factors for PPCM. This review of 17 studies (13 clinical and 4 preclinical) reveals that genetic mutations, particularly in the TTN gene, play a significant role in PPCM risk. Additionally, alterations in genes related to sarcomere stability (filamin C), myosin function (MYH6, MYH7), heat shock proteins (BAG3, Hsp20, Hspb16), desmosome proteins, oxidative stress (signal transducer and activator of transcription 3, PGC-1α), immunity, and metabolism (CRTAM, SH2D1B, SBSPON, TNS3, PLN, SERCA) also contribute to an increased risk for PPCM. Many of these genes have been previously noted in dilated cardiomyopathy, suggesting that PPCM may be a form of dilated cardiomyopathy. This work expands on previous reviews by integrating both clinical and preclinical studies, while also addressing a gap in the literature with an updated synthesis of current findings on this topic. This work begins to lay the foundation for the potential implementation of genetic screening for PPCM, offering insights that could enable more proactive and personalized clinical care for at-risk individuals. - Source: PubMed
Publication date: 2025/06/18
Seidman LaurenSathi NicholasFrishman William H