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Gene

FZD5

frizzled class receptor 5

Summary

Cytogenetic location
2q33.3
Coordinates
Chromosome 2: 207,762,598–207,769,906 (GRCh38)
Exons
2 exons across 7.3 kb
Protein
585 amino acids
Also known as
HFZ5, DKFZP434E2135
Previous symbols
C2orf31
MANE Select transcript
ENST00000295417.4NM_003468.4
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

  • Microphthalmia, Anophthalmia & Coloboma

    • Isolated Anophthalmia, Microphthalmia & Coloboma

      Eye malformations without other features, including nanophthalmos, caused by changes in genes such as VSX2, RAX, MFRP, PRSS56 and others.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      People with nanophthalmos (often MFRP or PRSS56) have a raised risk of angle-closure glaucoma and need regular eye checks; a genetic diagnosis also informs recurrence risk.

How FZD5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where FZD5 sits. FZD5 and 11 genes near it on chromosome 2, from 207,266,252 to 208,266,251.Chromosome 22q33.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3207.4 Mb207.6 Mb207.8 Mb208 Mb208.2 MbCREB1: 207,529,697–207,605,988, forward strandCREB1METTL21A: 207,579,518–207,626,297, reverse strandMETTL21ACCNYL1: 207,711,515–207,761,839, forward strandCCNYL1FZD5: 207,762,598–207,769,906, reverse strandFZD5PLEKHM3: 207,821,288–208,025,846, reverse strandPLEKHM3CRYGD: 208,121,607–208,124,595, reverse strandCRYGDCRYGC: 208,128,137–208,129,828, reverse strandCRYGCCRYGB: 208,142,573–208,146,163, reverse strandCRYGBCRYGA: 208,160,740–208,163,589, reverse strandCRYGAC2orf80: 208,165,343–208,190,245, reverse strandIDH1: 208,236,224–208,266,095, reverse strandIDH1PIKFYVE: 208,266,229–208,358,755, forward strandPIKFYVEDiagram of FZD5: 2 exons on the reverse strand of chromosome 2Exon 2: 5 known disease-causing sitesExon 2: 207,762,598–207,768,994, 6,397 basesExon 1: 207,769,265–207,769,906, 642 bases215′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 7 kb of the gene's 7.3 kb; 1,758 of those bases code for the protein.

How a genome test reads FZD5

5

positions in FZD5 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 7.3 kb of FZD5, introns included, not only the 7 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.). FZD5 gene: frizzled class receptor 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/fzd5

Vancouver

Dante Labs. FZD5 gene: frizzled class receptor 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fzd5

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