ZIC3 Zic family member 3
Gene ID: 7547, updated on 2-Nov-2024Gene type: protein coding
Also known as: HTX; HTX1; ZNF203; VACTERLX
- See all available tests in GTR for this gene
- Go to complete Gene record for ZIC3
- Go to Variation Viewer for ZIC3 variants
Summary
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Heterotaxy, visceral, 1, X-linked | not available |
| VACTERL association, X-linked, with or without hydrocephalus | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-02) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq26.3
- Sequence:
- Chromosome: X; NC_000023.11 (137566127..137577691)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZIC3 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
- ZIC3 database
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