ZIC3 Zic family member 3

Gene ID: 7547, updated on 2-Nov-2024
Gene type: protein coding
Also known as: HTX; HTX1; ZNF203; VACTERLX

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 MedGen: C1844020OMIM: 306955GeneReviews: Not available	See labs
VACTERL association, X-linked, with or without hydrocephalus MedGen: C2931228OMIM: 314390GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-12-02) ClinGen Genome Curation Page Haploinsufficency 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants
ZIC3 database

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