Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83552
MIM: 606227
HGNC: 18121
Ensembl: ENSG00000235718
Variants:
dbSNP: 83552
ClinVar: 83552
TCGA: ENSG00000235718
COSMIC: MFRP
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000235718 | ENST00000360167 | Q9BY79 |
| ENSG00000235718 | ENST00000449574 | A0A0X1KG76 |
| ENSG00000235718 | ENST00000619721 | Q9BY79 |
| ENSG00000235718 | ENST00000634542 | A0A0U1RQG2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36255095 | 2024 | Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension. | 0 |
| 36255095 | 2024 | Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension. | 0 |
| 37501562 | 2023 | Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients. | 0 |
| 37501562 | 2023 | Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients. | 0 |
| 32996714 | 2021 | Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. | 11 |
| 32996714 | 2021 | Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. | 11 |
| 31992737 | 2020 | The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. | 12 |
| 32118495 | 2020 | Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. | 6 |
| 32703043 | 2020 | A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. | 3 |
| 33203948 | 2020 | Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. | 8 |
| 31992737 | 2020 | The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. | 12 |
| 32118495 | 2020 | Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. | 6 |
| 32703043 | 2020 | A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. | 3 |
| 33203948 | 2020 | Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. | 8 |
| 31264930 | 2019 | Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study. | 6 |
Citation
Dessen P
MFRP (membrane frizzled-related protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68935/mfrp-(membrane-frizzled-related-protein)
