Property Summary

NCBI Gene PubMed Count 40
PubMed Score 74.24
PubTator Score 68.81

Knowledge Summary


No data available


  Differential Expression (11)

Disease log2 FC p
posterior fossa group B ependymoma 2.400 4.1e-07
atypical teratoid/rhabdoid tumor 1.900 4.1e-03
glioblastoma -1.400 3.6e-02
adrenocortical carcinoma 1.012 4.9e-02
non-small cell lung cancer 1.907 1.3e-11
group 4 medulloblastoma -2.400 8.7e-03
pilocytic astrocytoma -1.600 2.5e-02
subependymal giant cell astrocytoma -5.742 2.7e-03
nasopharyngeal carcinoma 2.300 2.5e-06
Breast cancer 1.400 2.8e-03
psoriasis 1.100 1.1e-17

 GWAS Trait (1)

Gene RIF (29)

26426078 ZIC2 acts upstream of OCT4 and recruits the nuclear remodeling factor complex to the OCT4 promoter, initiating OCT4 activation. ZIC2 levels positively correlated to the clinicopathological stages of HCC patients.
26318045 Data show that Zinc finger protein ZIC 2 (ZIC2) is indispensable in the regulation of pancreatic ductal adenocarcinoma (PDAC) cell apoptosis.
24677696 Mutational screening for HPE genes revealed the occurrence of a frameshift mutation in the ZIC2 gene.
24150758 ZIC2 and RASGRF1 are susceptibility genes, not only for common myopia, but also for high myopia.
22859937 A high level of sequence variation in the 3'UTR of ZIC2 may be associated with holoprosencephaly.
22847929 The c.1401_1406dup (p.Ala469_470dup) or alanine tract expansion to 17 residues) in the ZIC2 gene are likely to be medically significant for holoprosencephaly in a Brazilian cohort.
22733541 ZIC2, a transcription factor related to the sonic hedgehog pathway, is a strong discriminant between MAL and LMP tumors: it may be a major determinant of outcome of EOTs.
22310223 Mutations in ZIC2 is associated with holoprosencephaly.
21940735 Brain malformations, including neuronal migration defects, predominated in individuals with ZIC2 mutations.
21908606 role for ZIC2 as a transcriptional regulator of the beta-catenin.TCF4 complex.
21661123 Our findings suggest that Zic2 is a positive modulator increasing Gli1 transcriptional and oncogenic activity by retaining Gli1 in the nucleus of cervical cancer cells.
21638761 mutation of ZIC2 is a rare cause of, or contributor to, RES associated with HPE.
20683983 the smallest 13q deletion associated to DWM allows further narrowing of the previously established critical region for this brain malformation to 13q32.2-32.3. Among the few genes of the deleted region, ZIC2 and ZIC5 seem the most plausible candidates.
20531442 screened four known HPE genes in a Dutch cohort of 86 non-syndromic HPE index cases, including 53 family members. We detected 21 mutations (24.4%), 3 in SHH, 9 in ZIC2 and 9 in SIX3
20199689 ZIC1, ZIC2, and ZIC5 may have roles in meningiomas
19955556 Holoprosencephaly due to ZIC2 mutations is distinct from that due to mutations in other genes.
19784848 ZIC2 expression was associated with the histopathologic types of oral squamous cell carcinoma
19177455 Loss-of-function as the likely pathogenetic mechanism common to most, if not all, of ZIC2 mutations in holoprosencephaly.
19022413 ZIC2, SPRY2, and GPC5 genes are candidate genes suspected to explain the malformations associated with cerebral anomalies in the hypothesis of a contiguous gene syndrome in 13q deletion syndrome
18417618 This transcription factor regulates the expression of EphB1 in RGCs and also suggest the existence of an additional EphB1-independent pathway controlled by Zic2 that contributes to retinal axon divergence at the midline.
17251188 Forms two different complexes with DNA-dependent protein kinase, poly(ADP-ribose) polymerase, and RNA helicase A; all the components interacted directly with Zic2 protein
15590697 The C-terminal alanine-tract of ZIC2 influences the strength of DNA binding and alters transcriptional activity in a promoter-specific manner
15221788 Four novel ZIC2 mutations found in a cohort of Holoprosencephaly patinets.
14679585 Observational study of gene-disease association. (HuGE Navigator)
13678579 Zic2 is an evolutionarily conserved determinant of retinal ganglion cells that project ipsilaterally
12522805 Observational study of gene-disease association. (HuGE Navigator)
11910512 Holoprosencephaly in monosomy 13q may be related to ZIC2 gene loss of function.
11857562 Observational study of genotype prevalence. (HuGE Navigator)
11857562 Sample was too small to reach definitive conclusions, but the evidence is sufficiently intriguing to encourage further research.

AA Sequence


Text Mined References (40)

PMID Year Title
26426078 2015 ZIC2-dependent OCT4 activation drives self-renewal of human liver cancer stem cells.
26318045 2015 Addiction of pancreatic cancer cells to zinc-finger transcription factor ZIC2.
25233373 2014 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
24677696 2014 Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.
24150758 2013 Association between ZIC2, RASGRF1, and SHISA6 genes and high myopia in Japanese subjects.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
22859937 2012 Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
22847929 2012 Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
22733541 2012 The zinc finger gene ZIC2 has features of an oncogene and its overexpression correlates strongly with the clinical course of epithelial ovarian cancer.
22310223 2012 Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
21940735 2011 New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
21908606 2011 Transcription factor Zic2 inhibits Wnt/?-catenin protein signaling.
21661123 2011 Zic2 synergistically enhances Hedgehog signalling through nuclear retention of Gli1 in cervical cancer cells.
21638761 2011 Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20683983 2010 Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32).
20531442 2010 The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
20199689 2010 Expression of ZIC family genes in meningiomas and other brain tumors.
19955556 2010 Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
19784848 2010 Expression status of Zic family member 2 as a prognostic marker for oral squamous cell carcinoma.
19177455 2009 The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
19022413 Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
18417618 2008 Zic2 promotes axonal divergence at the optic chiasm midline by EphB1-dependent and -independent mechanisms.
17251188 2007 ZIC2-dependent transcriptional regulation is mediated by DNA-dependent protein kinase, poly(ADP-ribose) polymerase, and RNA helicase A.
15590697 2005 In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.
15221788 2004 Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14679585 2004 Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.
13678579 2003 Zic2 patterns binocular vision by specifying the uncrossed retinal projection.
12666207 2003 Expression of ZIC genes in the development of the chick inner ear and nervous system.
12522805 2003 Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.
11991713 2002 An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia.
11857562 2002 Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene.
11285244 2001 Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
11238441 2001 Physical and functional interactions between Zic and Gli proteins.
11038359 2001 Transcription factors Zic1 and Zic2 bind and transactivate the apolipoprotein E gene promoter.
10984499 2000 ZIC2 and Sp3 repress Sp1-induced activation of the human D1A dopamine receptor gene.
9771712 1998 Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
8557628 1996 The mouse zic gene family. Homologues of the Drosophila pair-rule gene odd-paired.