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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ZIC2
Zic family zinc finger 2
Chromosome 13 Β· 13q32.3
NCBI Gene: 7546Ensembl: ENSG00000043355.12HGNC: HGNC:12873UniProt: O95409
82PubMed Papers
21Diseases
0Drugs
53Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnuclear bodyDNA-binding transcription factor activity, RNA polymerase II-specificDNA bindingholoprosencephaly 5holoprosencephalyneurodegenerative diseasegenetic disorder
✦AI Summary

ZIC2 is a zinc finger transcription factor that acts as both a transcriptional activator and repressor with critical roles in early CNS organogenesis 1. It regulates neural tube closure through molecular control mechanisms 1 and promotes progression toward human primed pluripotency by recruiting SWI/SNF chr13 remodeling complexes to primed-specific enhancers 2. ZIC2 drives ipsilateral retinal ganglion cell projection formation by activating SERT and EPHB1 expression, refining visual system connectivity. The gene is differentially regulated across pluripotent states: it is repressed by KLF17 during naive pluripotency maintenance 3 but essential for primed state maintenance 2. Pathogenic ZIC2 mutations cause Holoprosencephaly type 5 (HPE5), one of the most common genetic causes of this severe forebrain malformation 4. ZIC2-associated HPE results from defective ventral and dorsal forebrain patterning and characteristically produces non-craniofacial phenotypes distinct from other HPE subtypes 4. Mouse models of ZIC2 mutations have elucidated the cellular and molecular mechanisms underlying both classic and middle interhemispheric variant HPE 4. Beyond developmental contexts, elevated ZIC2 expression correlates with poor prognosis in clear cell renal carcinoma through FOXM1-mediated upregulation and subsequent activation of UBE2C/mTOR signaling 5.

Sources cited
1
ZIC2 is a transcription factor involved in neural tube closure through molecular control mechanisms
PMID: 28196803
2
ZIC2 and ZIC3 recruit SWI/SNF to primed-specific enhancers and are essential for maintaining primed pluripotency
PMID: 39358345
3
KLF17 represses ZIC2 expression to promote naive pluripotency maintenance
PMID: 35391627
4
ZIC2 mutations are one of the most common genetic causes of Holoprosencephaly and produce non-craniofacial phenotypes
PMID: 29442327
5
FOXM1-regulated ZIC2 upregulation activates UBE2C/mTOR signaling in clear cell renal carcinoma
PMID: 37496990
Disease Associationsβ“˜21
holoprosencephaly 5Open Targets
0.82Strong
holoprosencephalyOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.45Moderate
midline interhemispheric variant of holoprosencephalyOpen Targets
0.37Weak
alobar holoprosencephalyOpen Targets
0.37Weak
lobar holoprosencephalyOpen Targets
0.37Weak
microform holoprosencephalyOpen Targets
0.37Weak
semilobar holoprosencephalyOpen Targets
0.37Weak
septopreoptic holoprosencephalyOpen Targets
0.37Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
myopiaOpen Targets
0.29Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
microcephalyOpen Targets
0.27Weak
HypermetropiaOpen Targets
0.24Weak
Progressive visual lossOpen Targets
0.21Weak
Abnormality of refractionOpen Targets
0.20Weak
eye diseaseOpen Targets
0.18Weak
smoking initiationOpen Targets
0.17Weak
spinal cord diseaseOpen Targets
0.15Weak
Holoprosencephaly 5UniProt
Pathogenic Variants53
NM_007129.5(ZIC2):c.1377_1406dup (p.Ala461_Ala470dup)Pathogenic
Holoprosencephaly 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 461
NM_007129.5(ZIC2):c.1317del (p.Leu440fs)Pathogenic
Holoprosencephaly 5
β˜…β˜…β˜†β˜†2023β†’ Residue 440
NM_007129.5(ZIC2):c.1213_1216delinsGCATGT (p.Pro405fs)Likely pathogenic
Holoprosencephaly 5
β˜…β˜…β˜†β˜†2022β†’ Residue 405
NM_007129.5(ZIC2):c.1095_1096del (p.Cys365_Glu366delinsTer)Pathogenic
Holoprosencephaly 5
β˜…β˜…β˜†β˜†2021β†’ Residue 365
NM_007129.5(ZIC2):c.494_495insTGCT (p.Gln165fs)Likely pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2025β†’ Residue 165
NM_007129.5(ZIC2):c.1021_1028del (p.Gly341fs)Likely pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2025β†’ Residue 341
NM_007129.5(ZIC2):c.1226G>C (p.Arg409Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 409
NM_007129.5(ZIC2):c.1071C>G (p.His357Gln)Likely pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2025β†’ Residue 357
NM_007129.5(ZIC2):c.106C>T (p.Gln36Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 36
NM_007129.5(ZIC2):c.1199_1207del (p.Lys400_Tyr402del)Pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2024β†’ Residue 400
NM_007129.5(ZIC2):c.452C>A (p.Ser151Ter)Pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2024β†’ Residue 151
NM_007129.5(ZIC2):c.1053del (p.Ile352fs)Likely pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2024β†’ Residue 352
NM_007129.5(ZIC2):c.773G>A (p.Cys258Tyr)Pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2023β†’ Residue 258
NM_007129.5(ZIC2):c.1497_1507dup (p.Gly503fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 503
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)Likely pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2023β†’ Residue 335
NM_007129.5(ZIC2):c.974G>A (p.Arg325His)Likely pathogenic
ZIC2-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 325
NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)Likely pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2022β†’ Residue 470
NM_007129.5(ZIC2):c.722del (p.Gly241fs)Pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2022β†’ Residue 241
NM_007129.5(ZIC2):c.1156del (p.Val386fs)Pathogenic
Holoprosencephaly 5
β˜…β˜†β˜†β˜†2022β†’ Residue 386
NM_007129.5(ZIC2):c.1240-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
FOXA2Protein interaction94%SHHProtein interaction94%DISP1Protein interaction91%GAS1Protein interaction86%SIX3Protein interaction75%EPHB1Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Liver
0%
Lung
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ZIC2FOXA2SHHDISP1GAS1SIX3EPHB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95409
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.96Intolerant
Observed/Expected LoF0.26 [0.14–0.52]
RankingsWhere ZIC2 stands among ~20K protein-coding genes
  • #5,838of 20,598
    Most Researched82
  • #1,278of 5,498
    Most Pathogenic Variants53 Β· top quartile
  • #3,210of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedZIC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neural tube closure: cellular, molecular and biomechanical mechanisms.
PMID: 28196803
Development Β· 2017
1.00
2
ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression towards human primed pluripotency.
PMID: 39358345
Nat Commun Β· 2024
0.90
3
FOXM1-regulated ZIC2 promotes the malignant phenotype of renal clear cell carcinoma by activating UBE2C/mTOR signaling pathway.
PMID: 37496990
Int J Biol Sci Β· 2023
0.80
4
ZIC2 in Holoprosencephaly.
PMID: 29442327
Adv Exp Med Biol Β· 2018
0.70
5
Retraction.
PMID: 33253503
J Cell Biochem Β· 2021
0.60