Gene
FZD4
frizzled class receptor 4
- HGNC 4042↗(opens in a new tab)
- Ensembl gene ENSG00000174804↗(opens in a new tab)
- NCBI Gene 8322↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q14.2
- Coordinates
- Chromosome 11: 86,945,679–86,955,395 (GRCh38)
- Exons
- 2 exons across 9.7 kb
- Protein
- 537 amino acids
- Also known as
- CD344
- Previous symbols
- EVR1
- MANE Select transcript
- ENST00000531380.2NM_012193.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Vitreoretinopathy
- Vitreoretinal Degeneration
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How FZD4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 7.4 kb of the gene's 9.7 kb; 1,614 of those bases code for the protein.
How a genome test reads FZD4
13
positions in FZD4 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 9.7 kb of FZD4, introns included, not only the 7.4 kb of exons.
Genes linked to the same conditions
- BEST1bestrophin 1Shares 1 condition
- CAPN5calpain 5Shares 1 condition
- COL11A1collagen type XI alpha 1 chainShares 1 condition
- COL18A1collagen type XVIII alpha 1 chainShares 1 condition
- COL2A1collagen type II alpha 1 chainShares 1 condition
- COL9A1collagen type IX alpha 1 chainShares 1 condition
- COL9A2collagen type IX alpha 2 chainShares 1 condition
- COL9A3collagen type IX alpha 3 chainShares 1 condition
- CTNNB1catenin beta 1Shares 1 condition
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 1 condition
- KCNJ13potassium inwardly rectifying channel subfamily J member 13Shares 1 condition
- LRP5LDL receptor related protein 5Shares 1 condition
Traits linked to FZD4
The Human Phenotype Ontology lists these as features of the rare conditions FZD4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Remnants of the hyaloid vascular system
- Vitreoretinopathy
- Abnormally small eyeball
- Clouding of the lens of the eye
- Corneal opacity
- Decreased clarity of vision
- Leukocoria
- Retinopathy of prematurity
Show 36 more traits
- Abnormal optic disc morphology
- Angle closure glaucoma
- Clouding of the lens of the eye at birth
- Ectopic fovea
- Exudative vitreoretinopathy
- Eye floaters
- Falciform retinal fold
- Glial remnants anterior to the optic disc
- Hyaloid vascular remnant and retrolental mass
- Inward turning cross eyed
- Persistent pupillary membrane
- Retinal detachment
- Subretinal fluid
- Tractional retinal detachment
- Abnormal macular morphology
- Blindness
- Chorioretinal atrophy
- Close sighted
- Cornea of eye less than 10mm in diameter
- Cross-eyed
- Enlarged eyeball
- Epiretinal membrane
- Glaucoma
- Increased tears
- Lazy eye
- Macular edema
- Macular hypoplasia
- Marked vision impairment
- Phthisis bulbi
- Retinal exudate
- Retinal fold
- Retinal hole
- Rhegmatogenous retinal detachment
- Shallow anterior chamber
- Posterior vitreous detachment
- Subcapsular cataract
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). FZD4 gene: frizzled class receptor 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/fzd4
Dante Labs. FZD4 gene: frizzled class receptor 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fzd4
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