ZIC3

ZIC3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2EJ4, 2RPC
Identifiers
Aliases	ZIC3, HTX, HTX1, VACTERLX, ZNF203, Zic family member 3
External IDs	OMIM: 300265; MGI: 106676; HomoloGene: 55742; GeneCards: ZIC3; OMA:ZIC3 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	137,577,691 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	57,087,096 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; testicle; ; paraflocculus of cerebellum; ; ventricular zone; ; cerebellar vermis; ; embryo; ; ganglionic eminence; ; optic nerve; ; C1 segment; ; Hypothalamus;
	Top expressed in
	primitive streak; ; Epithelium of choroid plexus; ; ciliary body; ; epiblast; ; iris; ; tail of embryo; ; choroid plexus of fourth ventricle; ; lumbar subsegment of spinal cord; ; Rostral migratory stream; ; lateral septal nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; DNA binding; nucleic acid binding; sequence-specific DNA binding; metal ion binding; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; nucleus; nucleoplasm;
Biological process	determination of left/right symmetry; somatic stem cell population maintenance; determination of pancreatic left/right asymmetry; nervous system development; determination of digestive tract left/right asymmetry; multicellular organism development; heart looping; cell differentiation; regulation of transcription, DNA-templated; anterior/posterior pattern specification; determination of liver left/right asymmetry; pattern specification process; transcription, DNA-templated; lung development; determination of left/right asymmetry in nervous system; positive regulation of transcription, DNA-templated; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; central nervous system development;
	Sources:Amigo / QuickGO
Orthologs
	7547
	22773
	ENSG00000156925
	ENSMUSG00000067860
	O60481
	Q62521
	NM_003413; NM_001330661
	NM_009575
	NP_001317590; NP_003404
	NP_033601
	Wikidata
View/Edit Human	View/Edit Mouse

ZIC3 is a member of the Zinc finger of the cerebellum (ZIC) protein family.

ZIC3 is classified as a ZIC protein due to conservation of the five C2H2 zinc fingers, which enables the protein to interact with DNA and proteins. Correct function of this protein family in critical for early development, and as such mutations of the genes encoding these proteins is known to result in various congenital defects. For example, mutation of ZIC3 is associated with heterotaxy, that is thought to occur due to the role of ZIC3 in initial left-right symmetry formation, which involves the maintaining redistributed Nodal after the asymmetry of the embryo is initially broken. Mutation of ZIC3 is also associated with various heart defects, such as heart looping, however these are thought to represent a mild form of heterotaxy. Mouse based studies have linked defective ZIC3 with neural tube defects (spina bifida and exencephaly) and skeletal defects as well indicated a role for Zic3 in neural crest specification. Both the left-right defects and the neural tube defects caused by loss of Zic3 have been linked to defective planar cell polarity.

ZIC3 is also of particular interest as it has been shown to be required for maintenance of embryonic stem cell pluripotency.