rs703752
This is a 3 prime utr variant variant in the NKX2-5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Molecular Basis for Dysregulated Activation of NKX2‐5 in the Vascular Remodeling of Systemic SclerosisAssociationN=5,724Athina Dritsoula et al.(2018)· Arthritis & Rheumatology
This study identified NKX2-5 as genetically associated with systemic sclerosis (SSc) and SSc-associated pulmonary hypertension through a meta-analysis of UK and Spanish cohorts. The rs3131917 SNP showed significant association with SSc (meta-analysis p=0.029, OR=0.91). Functional studies revealed NKX2-5 dysregulation through two regulatory mechanisms: an upstream promoter element containing rs3095870 (TEAD1 binding site) and a downstream enhancer containing rs3132139 and rs3131917.
About NKX2-5
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
View all NKX2-5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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