ZIC3 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ZIC3 |
| Official Name | Zic family member 3 [Source:HGNC Symbol;Acc:HGNC:12874] |
| Ensembl ID | ENSG00000156925 |
| Bio databases IDs | |
| Aliases | Zic family member 3 |
| Synonyms | Bn, HTX, HTX1, Ka, RGD1561261, VACTERLX, Zic family member 3, zinc finger protein of the cerebellum 3, ZNF203 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ZIC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Zinc finger, C2H2 type
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- transcription co-activator
- nucleic acid binding
- protein binding
- sequence-specific DNA binding
- C2H2-type zinc ribbon
- zinc finger
- double-stranded DNA binding
- Zinc-finger double domain
- zinc finger domain
- Zic proteins zinc finger domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the ZIC3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked visceral heterotaxy 1
- hypoplasia
- scoliosis
- growth failure
- hereditary disorder
- kyphosis
- vacterl with hydrocephalus, X-linked
- X-linked VACTERL association with or without hydrocephalus
- malocclusion
- X-linked multiple types congenital heart defects type 1
role in cell
- activation in
- differentiation
- expression in
- transactivation in
- cell cycle progression
- pluripotency
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ZIC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system segmentation
- paraxial mesoderm development
- outer ear morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- olfactory bulb development
- face development
- axial mesoderm development
- neural plate development
- atrial cardiac muscle tissue development
- skeletal system development
- stem cell differentiation
- positive regulation of transcription, DNA-dependent
- heart looping
- determination of liver left/right asymmetry
- left/right axis specification
- lung development
- mRNA transcription from RNA polymerase II promoter
- neuron differentiation
- embryonic pattern specification
- determination of digestive tract left/right asymmetry
- smoothened signaling pathway
- hippocampus development
- determination of left/right symmetry
- central nervous system development
- germ-line stem cell maintenance
- limb morphogenesis
- primitive streak formation
- determination of left/right asymmetry in nervous system
- determination of pancreatic left/right asymmetry
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- transcription coactivator activity
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity