AlphaFold predicted structure
ZIC2 · O95409
Mean pLDDT
50.2/ 100
Low
532 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)20%
- Low(50–70)14%
- Very low(< 50)66%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ZIC2
Chr 13q32.3Zic family zinc finger 2
- Aliases:
- HPE5
- MANE:
- ENST00000376335.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHoloprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
holoprosencephaly 5
0.82holoprosencephaly
0.71neurodegenerative disease
0.51hereditary disease
0.45alobar holoprosencephaly
0.38septopreoptic holoprosencephaly
0.38microform holoprosencephaly
0.38midline interhemispheric variant of holoprosencephaly
0.37lobar holoprosencephaly
0.37semilobar holoprosencephaly
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Zinc finger protein ZIC 2
Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally projecting growth cones. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3'. Associates to the basal SERT promoter region from ventrotemporal retinal segments of retinal embryos
Diseases associated with ZIC2
Curated MONDO disease pages that list ZIC2 among their top associated genes.