ZNF408 zinc finger protein 408
Gene ID: 79797, updated on 19-Sep-2024Gene type: protein coding
Also known as: EVR6; RP72
- See all available tests in GTR for this gene
- Go to complete Gene record for ZNF408
- Go to Variation Viewer for ZNF408 variants
Summary
The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Exudative vitreoretinopathy 6 | See labs |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Retinitis pigmentosa 72 | See labs |
| Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 11p11.2
- Sequence:
- Chromosome: 11; NC_000011.10 (46701031..46705912)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZNF408 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
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