ZIC4 Zic family member 4
Gene ID: 84107, updated on 17-Jun-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for ZIC4
- Go to Variation Viewer for ZIC4 variants
Summary
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2021-08-25) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2021-08-25) ClinGen Genome Curation Page |
Genomic context
- Location:
- 3q24
- Sequence:
- Chromosome: 3; NC_000003.12 (147386046..147406543, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZIC4 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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