Gene
MFRP
membrane frizzled-related protein
- HGNC 18121↗(opens in a new tab)
- Ensembl gene ENSG00000235718↗(opens in a new tab)
- NCBI Gene 83552↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.3
- Coordinates
- Chromosome 11: 119,338,942–119,346,705 (GRCh38)
- Exons
- 15 exons across 7.8 kb
- Protein
- 579 amino acids
- Also known as
- FLJ30570, rd6, NNO2, C1QTNF5
- MANE Select transcript
- ENST00000619721.6NM_031433.4
- 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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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.
- 1 GenCC submitter rates 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 MFRP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.9 kb of the gene's 7.8 kb; 1,740 of those bases code for the protein.
How a genome test reads MFRP
54
positions in MFRP 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 7.8 kb of MFRP, introns included, not only the 3.9 kb of exons.
Genes linked to the same conditions
- ALDH1A3aldehyde dehydrogenase 1 family member A3Shares 1 condition
- FZD5frizzled class receptor 5Shares 1 condition
- PRSS56serine protease 56Shares 1 condition
- RAXretina and anterior neural fold homeoboxShares 1 condition
- RBP4retinol binding protein 4Shares 1 condition
- SHHsonic hedgehog signaling moleculeShares 1 condition
- TMEM98transmembrane protein 98Shares 1 condition
- VSX2visual system homeobox 2Shares 1 condition
Traits linked to MFRP
The Human Phenotype Ontology lists these as features of the rare conditions MFRP can cause. Each trait's page lists the other genes linked to it.
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.). MFRP gene: membrane frizzled-related protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/mfrp
Dante Labs. MFRP gene: membrane frizzled-related protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mfrp
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