ZNF423 zinc finger protein 423
Gene ID: 23090, updated on 3-Nov-2024Gene type: protein coding
Also known as: OAZ; Roaz; hOAZ; Ebfaz; JBTS19; NPHP14; ZFP423; Zfp104
- See all available tests in GTR for this gene
- Go to complete Gene record for ZNF423
- Go to Variation Viewer for ZNF423 variants
Summary
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Nephronophthisis 14 | See labs |
Genomic context
- Location:
- 16q12.1
- Sequence:
- Chromosome: 16; NC_000016.10 (49487524..49859279, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZNF423 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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