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Gene : ZIC2 Homo sapiens

Name  ? Zic family member 2 Cytological Location  13q32.3
Brief Description  Zic family member 2
description  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]
  • synonyms:
  • HPE5,
  • HGNC:12873,
  • NM_007129,
  • uc001von.4,
  • Zic family member 2 (odd-paired homolog, Drosophila),
  • Zinc finger protein of the cerebellum 2,
  • AF104902,
  • OTTHUMG00000017279,
  • HPE5,
  • ZIC2,
  • Zic family member 2 (odd-paired Drosophila homolog)
  • identifiers:
  • 7546,
  • ENSG00000043355,
  • ZIC2

Genome feature

Region: gene ? Length: 4982  
Location: 13:99981784-99986765 Cyto location: 13q32.3

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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77 SN Ps

5 Cross References

18 Data Sets

14 Homologues

0 Located Features

97 Rna Seq Results