Property Summary

NCBI Gene PubMed Count 30
PubMed Score 1131.03
PubTator Score 61.43

Knowledge Summary


No data available


  Differential Expression (4)

Disease log2 FC p
posterior fossa group B ependymoma 1.800 1.5e-05
medulloblastoma 2.900 1.7e-03
subependymal giant cell astrocytoma -2.857 5.3e-04
ovarian cancer 1.100 3.2e-08

Gene RIF (20)

26498524 detected the expression level of miR-564 and ZIC3 protein in tissue specimens, and found a significant negative correlation between them. Patients with low levels of miR-564 showed a poorer overall survival
26294094 Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association
24123890 ZIC3 sequencing from unrelated patients with heterotaxy and congenital heart disease identified variants in 5.2% of sporadic male cases some of which were novel. Functional analyses show aberrant cytoplasmic localization.
23872418 sumoylation targets human ZIC3 primarily on the consensus lysine residue K248, which is critical for the nuclear retention of ZIC3.
23427188 ZIC3 mutations are an important etiology in sporadic and familial heterotaxy.
22171628 Case Reports: situs inversus totalis and X-linked heterotaxy as a result of novel ZIC3 mutation.
21864452 Mutations in Zinc Finger Protein of the Cerebellum 3 were identified in 4 of the 47 patients (8.5%) with heterotaxy syndrome. Our results expand the mutation spectrum of monogenic heterotaxy syndrome with associated cardiac anomalies.
21858219 Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3.
21069353 Disruption of Gli3-Zic3 interaction in the critical period for ventral body wall formation may contribute to omphalocele phenotype in Cd chick model.
18716025 results indicate that ZIC3 is imported into the cell nucleus by the Karyopherin (Importin) system and that the impaired nuclear localization by the ZF1 mutation is not due to a direct influence on the nuclear localization signal
17764085 in vitro interactions of ZIC3 with GLI3 and the effect of ZIC3 mutations identified in patients with either heterotaxy or isolated cardiovascular malformations.
17468179 ZIC3 has a role in regulating cardiac gene expression
17295247 We studied a series of 42 cases of transposition of the great arteries; mutation in the X chromosome at the ZIC3 gene was found in two affected siblings (one male, one female) and their unaffected mother
17185387 Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
15470371 A positional effect caused by the balanced (X;21) translocation may be responsible for functional nullisomy of ZIC3
14985256 Results suggest that Zic3 plays a role in intra-retinal axon targeting, possibly through regulation of the expression of specific downstream genes involved in axon guidance.
14681828 ZIC3 mutations in three classic heterotaxy kindreds and two sporadic congenital heart defect cases
14679585 Observational study of gene-disease association. (HuGE Navigator)
12963115 we have focused on the regulation of the Zic3 gene, which codes for a zinc finger transcription factor expressed in the organizer region at the beginning of gastrulation
12522805 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (34)

PMID Year Title
26498524 2015 MiR-564 functions as a tumor suppressor in human lung cancer by targeting ZIC3.
26294094 2015 Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
24123890 2014 Genetic and functional analyses of ZIC3 variants in congenital heart disease.
23872418 2013 Sumoylation regulates nuclear localization and function of zinc finger transcription factor ZIC3.
23427188 2013 The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
22171628 Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.
21864452 2012 Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.
21858219 2011 Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21069353 2011 Disruption of GLI3-ZIC3 interaction in the cadmium-induced omphalocele chick model.
20452998 2010 Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
19266028 2009 Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment.
18716025 2008 Functional and structural basis of the nuclear localization signal in the ZIC3 zinc finger domain.
17764085 2008 Characterization of the interactions of human ZIC3 mutants with GLI3.
17468179 2007 Identification of a novel role of ZIC3 in regulating cardiac development.
17295247 2007 Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
17185387 2007 Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15470371 2005 Situs ambiguus in a female fetus with balanced (X;21) translocation--evidence for functional nullisomy of the ZIC3 gene?
14985256 2004 Disruption of gradient expression of Zic3 resulted in abnormal intra-retinal axon projection.
14681828 2004 Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
14679585 2004 Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.
12963115 2003 Identification of a phylogenetically conserved activin-responsive enhancer in the Zic3 gene.
12522805 2003 Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11238441 2001 Physical and functional interactions between Zic and Gli proteins.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10861288 2000 A deletion encompassing Zic3 in bent tail, a mouse model for X-linked neural tube defects.
9354794 1997 X-linked situs abnormalities result from mutations in ZIC3.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8298651 1993 Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1.
7747776 1995 Heterotaxia syndrome and autosomal dominant inheritance.