rs200459003
This variant is located in the FOXA2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Heterozygous Deletion ofFOXA2Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary AtresiaCase reportN=146Ellen A. Tsai et al.(2015)· Human Mutation
A de novo 277kb heterozygous deletion of FOXA2 on chromosome 20p11.21 segregates with heterotaxy and biliary atresia in a family. The proband additionally carries rs1904589 (p.His165Arg) in NODAL, a functional polymorphism that decreases NODAL expression. Haploinsufficiency of FOXA2 combined with reduced NODAL expression is proposed to cause syndromic biliary atresia. Screening of 46 syndromic and 100 isolated BA patients identified rare FOXA2 missense variants in 7 patients, most also carrying the rs1904589 NODAL variant.
About FOXA2
This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
View all FOXA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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