ZFHX3 zinc finger homeobox 3
Gene ID: 463, updated on 31-Mar-2024Gene type: protein coding
Also known as: ATBT; SCA4; ATBF1; ATFB8; ZFH-3; ZNF927; C16orf47
- See all available tests in GTR for this gene
- Go to complete Gene record for ZFHX3
- Go to Variation Viewer for ZFHX3 variants
Summary
This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. GeneReviews: Not available | |
| A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. GeneReviews: Not available | |
| Atrial fibrillation, familial, 8 | See labs |
| Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available | |
| Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. GeneReviews: Not available | |
| Malignant tumor of prostate | See labs |
| Meta-analysis identifies six new susceptibility loci for atrial fibrillation. GeneReviews: Not available | |
| Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available | |
| Spinocerebellar ataxia type 4 | See labs |
| Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. GeneReviews: Not available |
Genomic context
- Location:
- 16q22.2-q22.3
- Sequence:
- Chromosome: 16; NC_000016.10 (72782885..73891930, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZFHX3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- ZFHX3 database
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