rs12976445

This is a coding sequence variant variant in the SPACA6 gene.

Research that mentions this SNP (4)

Regulation of miR‐125a expression by rs12976445 single‐nucleotide polymorphism is associated with radiotherapy‐induced pneumonitis in lung carcinoma patients
AssociationN=265Xuan Huang et al.(2019)· Journal of Cellular Biochemistry

This study identified SLC24A2 as a target gene of oar-miR-377 microRNA in sheep, and discovered a novel SNP (276T>C) in the upstream flanking region of oar-miR-377 that is extremely significantly associated with wool fiber diameter variation (P<0.01) in Chinese Merino sheep. Functional studies using dual-luciferase reporter assays and Western blotting confirmed that oar-miR-377 regulates SLC24A2 expression and promotes secondary hair follicle development.

Traits studied:Coefficient of variation of wool fiber diameterWool fiber diameterWool quality traits
miR‐30a promoter variation contributes to the increased risk of colorectal cancer in an Iranian population
Meta-analysisN=5,670Hossein Sadeghi et al.(2019)· Journal of Cellular Biochemistry

A meta-analysis investigating the association of B7-H4 gene rs10754339 (A/G) and miR-125a gene rs12976445 (T/C) with cancer susceptibility across multiple cancer types. The study included original case-control data from 1,490 Chinese cancer patients (liver, lung, and gastric cancers) and 800 controls, plus meta-analysis of 8 studies for rs10754339 and 8 studies for rs12976445. Results showed rs10754339 A-allele was protective against overall cancer (OR 0.78, 95% CI 0.66-0.93) and breast cancer specifically (OR 0.73, 95% CI 0.64-0.85) in Chinese populations, while rs12976445 T-allele increased cancer risk overall (OR 1.28, 95% CI 1.13-1.45 in Chinese population).

Traits studied:Bladder cancerBreast cancerColorectal cancerGastric cancerLiver cancerLung cancerOverall cancer riskProstate cancer
Rs531564 polymorphism in microRNA‐214 regulates interleukin‐6R expression in anal fissure patients to affect the risk of anal abscess formation
AssociationN=108Jiangang Liu et al.(2019)· Journal of Cellular Biochemistry

This study examined the rs531564 SNP in microRNA-124 (miR-124) and its role in anal abscess development in anal fissure patients. Using luciferase assays and clinical samples from 108 AF patients (40 with anal abscess, 68 without), the authors found that miR-124 directly targets IL-6R mRNA and downregulates its expression. Patients carrying the TC/TT genotype of rs531564 showed reduced miR-124 expression and elevated inflammatory markers (TNF-α, IFN-γ, IL-4), with an increased incidence of anal abscess formation. The rs12976445 SNP in miR-125a showed no significant association with anal abscess risk.

Traits studied:Anal abscessAnal fissure
Haplotype‐based association of two SNPs in miR‐323b with unexplained recurrent spontaneous abortion in a Chinese Han population
AssociationN=100Xue‐Qin Wang et al.(2018)· Journal of Cellular Physiology

A case-control association study of 50 Saudi women with recurrent pregnancy loss (RPL) and 50 healthy controls examined six microRNA gene polymorphisms. Significant associations were found for miR-146a C>G (rs2910164, OR=2.29, 95% CI: 1.02-5.18, p=0.046) and miR-149 T>C (rs2292832, OR=2.67, 95% CI: 1.08-6.61, p=0.034) in heterozygous genotypes, with higher frequency in RPL patients compared to controls. Other polymorphisms (miR-10, miR-125, miR-323b, miR-499) showed no significant association with RPL.

Traits studied:Recurrent pregnancy loss (RPL)Recurrent spontaneous abortion

About SPACA6

Enables protein-macromolecule adaptor activity. Involved in sperm-egg recognition. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SPACA6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…