FOXA2 Chromosome 20
Forkhead box A2
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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
RS150786045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS186945948
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199796119
Conflicting classifications of pathogenicity
Health Risk
RS201279073
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755036513
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2514813303
Likely pathogenic
Congenital syndromic hypopituitarism, Congenital syndromic hypopituitarism
Health Risk
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 |