FOXA2 forkhead box A2
Gene ID: 3170, updated on 29-Jul-2024Gene type: protein coding
Also known as: HNF3B; TCF3B; HNF-3-beta
- See all available tests in GTR for this gene
- Go to complete Gene record for FOXA2
- Go to Variation Viewer for FOXA2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available | |
| A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. GeneReviews: Not available | |
| Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. GeneReviews: Not available | |
| Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. GeneReviews: Not available |
Genomic context
- Location:
- 20p11.21
- Sequence:
- Chromosome: 20; NC_000020.11 (22580998..22585490, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FOXA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.