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Gene

ZIC2

Zic family zinc finger 2

Summary

Cytogenetic location
13q32.3
Coordinates
Chromosome 13: 99,981,784–99,986,765 (GRCh38)
Exons
3 exons across 5 kb
Protein
532 amino acids
Also known as
HPE5
MANE Select transcript
ENST00000376335.8NM_007129.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Non-Acquired Combined Pituitary Hormone Deficiency

    • Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.

      • 5 GenCC submitters rate it definitive or strong

How ZIC2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 13, with a bracket where ZIC2 sits. ZIC2 and 4 genes near it on chromosome 13, from 99,484,275 to 100,484,274.Chromosome 1313q32.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3499.6 Mb99.8 Mb100 Mb100.2 Mb100.4 MbTM9SF2: 99,446,311–99,564,048, forward strandTM9SF2CLYBL: 99,606,631–99,909,459, forward strandCLYBLZIC5: 99,962,964–99,971,767, reverse strandZIC5ZIC2: 99,981,784–99,986,765, forward strandZIC2PCCA: 100,089,015–100,530,437, forward strandPCCADiagram of ZIC2: 3 exons on the forward strand of chromosome 13Exon 1: 14 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 1: 99,981,784–99,983,139, 1,356 basesExon 2: 99,984,946–99,985,109, 164 basesExon 3: 99,985,323–99,986,765, 1,443 bases1235′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3 kb of the gene's 5 kb; 1,599 of those bases code for the protein.

How a genome test reads ZIC2

30

positions in ZIC2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 5 kb of ZIC2, introns included, not only the 3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ZIC2 gene: Zic family zinc finger 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/zic2

Vancouver

Dante Labs. ZIC2 gene: Zic family zinc finger 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/zic2

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