FOXA2 Chromosome 20

Forkhead box A2
6 variants 6 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
20p11.21
Ensembl
ENSG00000125798
Associated Conditions (2)
Inborn genetic diseases
Congenital syndromic hypopituitarism
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS150786045 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186945948 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199796119 Health Risk Conflicting classifications of pathogenicity
RS201279073 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755036513 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2514813303 Health Risk Likely pathogenic Congenital syndromic hypopituitarism, Congenital syndromic hypopituitarism
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