ZIC2 Chromosome 13

Zic family zinc finger 2
50 variants 50 Health Risk

Upload your DNA to see your personal genotypes for variants in ZIC2.

What This Gene Does
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Zinc fingers C2H2-type|ZIC family zinc fingers"
Locus Type
gene with protein product
Location
13q32.3
Ensembl
ENSG00000043355
Associated Conditions (6)
Holoprosencephaly 5
ZIC2-related disorder
Inborn genetic diseases
Holoprosencephaly sequence
Microcephaly
Abnormality of the nervous system
Key Variants
RS2501544777
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS2501545142
Conflicting classifications of pathogenicity
Holoprosencephaly 5, ZIC2-related disorder, Holoprosencephaly 5
Health Risk
RS398124241
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS748109787
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS753250735
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Inborn genetic diseases, Holoprosencephaly 5
Health Risk
RS755522720
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS761822481
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Inborn genetic diseases, Holoprosencephaly 5
Health Risk
RS762700653
Conflicting classifications of pathogenicity
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS1456001894
Likely pathogenic
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS1566405714
Likely pathogenic
Holoprosencephaly 5, Holoprosencephaly 5
Health Risk
RS1594290376
Likely pathogenic
Health Risk
RS1594291868
Likely pathogenic
Holoprosencephaly sequence, Microcephaly, Holoprosencephaly sequence
Health Risk
All Variants (50)
RSID Category Clinical Significance Conditions
RS2501544777 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS2501545142 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, ZIC2-related disorder, Holoprosencephaly 5
RS398124241 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS748109787 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS753250735 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Inborn genetic diseases, Holoprosencephaly 5
RS755522720 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS761822481 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Inborn genetic diseases, Holoprosencephaly 5
RS762700653 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS1456001894 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1566405714 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594290376 Health Risk Likely pathogenic —
RS1594291868 Health Risk Likely pathogenic Holoprosencephaly sequence, Microcephaly, Holoprosencephaly sequence
RS2053256914 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2152162755 Health Risk Likely pathogenic —
RS2152162756 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2152163697 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501545204 Health Risk Likely pathogenic ZIC2-related disorder, ZIC2-related disorder
RS2501545280 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501549421 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501550235 Health Risk Likely pathogenic —
RS2501551086 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501551952 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS794729641 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1060499562 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1060499563 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1060499564 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1064794138 Health Risk Pathogenic —
RS1555332212 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1555332225 Health Risk Pathogenic —
RS1555332361 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1555332362 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594290658 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594291863 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1594292057 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2053238266 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2152162709 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2152163567 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2152163576 Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2501541341 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2501544556 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501544720 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501545060 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS2501549380 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515364 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515365 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515499 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS397515500 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS753776168 Health Risk Pathogenic —
RS756225250 Health Risk Pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS886041583 Health Risk Pathogenic —
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