rs4660293

This variant is located in the PABPC4 gene.

▶

GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

sex hormone-binding globulin measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele G
OR 0.67
p 5.0e-13
N 148,248
Major Consortium StudyLarge GWAS
European

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele G
OR 0.11
p 2.0e-10
N 1,028,980
Large GWAS
multi-ancestry

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 9.0e-10
N 128,922
Large GWAS
European

valine measurement

Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele A
OR 0.03
p 2.0e-8
N 117,944
Large GWAS
European

high density lipoprotein cholesterol measurement

Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 0.48
p 4.0e-10
N 99,900
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.035
p 1.0e-15
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.035
p 3.0e-18
N 94,595
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
AssociationN=76,071Albrechtsen A. et al.(2013)· Diabetologia

Three-stage exome sequencing and replication study identified three amino-acid polymorphisms associated with metabolic traits: CD300LG R82C associated with fasting HDL-cholesterol (p=7.2×10⁻⁸), and COBLL1 N939D (rs7607980, p=1.2×10⁻¹¹) and MACF1 M2290V (rs2296172, p=8.2×10⁻¹⁰) both associated with type 2 diabetes. The study involved exome sequencing of 1,974 Danish individuals with replication in 15,989 Danes and 63,896 Europeans.

Traits studied:BMIFasting glucoseHDL-cholesterolHypertensionObesityTriacylglycerolType 2 diabetesWaist circumference
PubMedDOIMetascience Observatory

About PABPC4

Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This protein has also been found to interact with coronavirus nucleocapsid proteins and is thought to inhibit coronavirus replication. [provided by RefSeq, Nov 2021]

View all PABPC4 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…