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
Gene location (Human) Chr. X chromosome (human)[1] Band Xq26.3 Start 137,566,127 bp[1] End 137,577,691 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A6|X 32.56 cM Start 57,068,060 bp[2] End 57,087,096 bp[2]
RNA expression pattern Bgee Top expressed in embryo cerebellar hemisphere cerebellum cerebellar vermis prosencephalon Achilles tendon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GO:0001948 protein binding DNA binding nucleic acid binding sequence-specific DNA binding metal ion binding GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001200, GO:0001133, GO:0001201 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
Species	Human	Mouse
Entrez	7547	22773
Ensembl	ENSG00000156925	ENSMUSG00000067860
UniProt	O60481	Q62521
RefSeq (mRNA)	NM_003413 NM_001330661	NM_009575
RefSeq (protein)	NP_001317590 NP_003404	NP_033601
Location (UCSC)	Chr X: 137.57 – 137.58 Mb	Chr X: 57.07 – 57.09 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

ZIC3 is a member of the Zinc finger of the cerebellum (ZIC) protein family.^[5][6]

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,^[7][8] 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.^[9] 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 ^[10] as well indicated a role for Zic3 in neural crest specification. ^[11] Both the left-right defects and the neural tube defects caused by loss of Zic3 have been linked to defective planar cell polarity. ^[12]

ZIC3 is also of particular interest as it has been shown to be required for maintenance of embryonic stem cell pluripotency.^[13]

Involvement in Wnt signalling[]

ZIC2, another member of the ZIC family, has recently been found to interact with TCF7L2, enabling it to act as a Wnt/β-catenin signalling inhibitor.^[14] Further experiments have indicated that human ZIC3 is also able to inhibit Wnt signalling and that the Zinc finger domains are absolutely critical for this role.^[15] Such a role is of critical importance, as not only is correct Wnt signalling critical for early development,^[16] Wnt signalling has also been found to be upregulated to several cancers. In addition Zic3 inhibition of canonical Wnt has recently been shown to have a role in specification of the neural crest in mice.^[17]

References[]

Further reading[]

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