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Aliases for MFRP Gene

Aliases for MFRP Gene

  • Membrane Frizzled-Related Protein 2 3 5
  • Membrane-Type Frizzled-Related Protein 2 3 4
  • C1q And TNF Related 5 2 3
  • MCOP5 3
  • NNO2 3
  • RD6 3

External Ids for MFRP Gene

Previous GeneCards Identifiers for MFRP Gene

  • GC11M121209
  • GC11M120722
  • GC11M119244
  • GC11M118749
  • GC11M118714
  • GC11M115150
  • GC11M119218

Summaries for MFRP Gene

Entrez Gene Summary for MFRP Gene

  • This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]

GeneCards Summary for MFRP Gene

MFRP (Membrane Frizzled-Related Protein) is a Protein Coding gene. Diseases associated with MFRP include Microphthalmia, Isolated 5 and Nanophthalmos 2. Among its related pathways are MAPK Signaling: Mitogen Stimulation Pathway. An important paralog of this gene is CUBN.

UniProtKB/Swiss-Prot for MFRP Gene

  • May play a role in eye development.

Gene Wiki entry for MFRP Gene

Additional gene information for MFRP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFRP Gene

Genomics for MFRP Gene

Regulatory Elements for MFRP Gene

Enhancers for MFRP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H119366 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -22.9 -22897 6.4 HDGF PKNOX1 FOXA2 ARID4B DMAP1 YY1 FOS SP5 MXD4 REST THY1 C1QTNF5 ABCG4 MFRP USP2 NLRX1 H2AFX GC11M119369
GH11H119374 1.5 Ensembl ENCODE dbSUPER 11.8 -30.3 -30341 5.5 PKNOX1 FOXA2 ATF1 MLX ARNT ARID4B DMAP1 TCF12 GATA2 ZNF143 THY1 MFRP C1QTNF5 USP2 ENSG00000254740
GH11H119469 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -124.1 -124092 2 JUND POLR2A FOS THY1 USP2 USP2-AS1 ENSG00000254740 MFRP C1QTNF5 LOC105369520 GC11P119452 GC11P119503
GH11H119481 1.3 Ensembl ENCODE 11.2 -134.9 -134874 1.1 FOXA2 MLX ARID4B SLC30A9 ZNF143 ZNF207 FOS RUNX3 SP5 YY2 MFRP C1QTNF5 THY1 GC11P119503 GC11P119452
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MFRP on UCSC Golden Path with GeneCards custom track

Genomic Locations for MFRP Gene

Genomic Locations for MFRP Gene
7,740 bases
Minus strand

Genomic View for MFRP Gene

Genes around MFRP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFRP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFRP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFRP Gene

Proteins for MFRP Gene

  • Protein details for MFRP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Membrane frizzled-related protein
    Protein Accession:
    Secondary Accessions:
    • B0YJ36
    • B0YJ37
    • B4DHN8
    • Q335M3
    • Q96DQ9

    Protein attributes for MFRP Gene

    579 amino acids
    Molecular mass:
    62212 Da
    Quaternary structure:
    • Interacts with C1QTNF5.
    • This protein is produced by a bicistronic gene which also produces the C1QTNF5 protein from a non-overlapping reading frame.

    Alternative splice isoforms for MFRP Gene


neXtProt entry for MFRP Gene

Post-translational modifications for MFRP Gene

  • Glycosylation at posLast=227227 and posLast=415415
  • Modification sites at PhosphoSitePlus

Other Protein References for MFRP Gene

No data available for DME Specific Peptides for MFRP Gene

Domains & Families for MFRP Gene

Gene Families for MFRP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MFRP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MFRP: view

No data available for UniProtKB/Swiss-Prot for MFRP Gene

Function for MFRP Gene

Molecular function for MFRP Gene

UniProtKB/Swiss-Prot Function:
May play a role in eye development.

Phenotypes From GWAS Catalog for MFRP Gene

Gene Ontology (GO) - Molecular Function for MFRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with MFRP: view
genes like me logo Genes that share phenotypes with MFRP: view

Human Phenotype Ontology for MFRP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MFRP Gene

Localization for MFRP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFRP Gene

Apical cell membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFRP gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for MFRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 11263980
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with MFRP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFRP Gene

Pathways & Interactions for MFRP Gene

genes like me logo Genes that share pathways with MFRP: view

Pathways by source for MFRP Gene

1 R&D Systems pathway for MFRP Gene

Gene Ontology (GO) - Biological Process for MFRP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0009790 embryo development NAS 11263980
GO:0042462 eye photoreceptor cell development IEA --
GO:0060041 retina development in camera-type eye IEA --
genes like me logo Genes that share ontologies with MFRP: view

No data available for SIGNOR curated interactions for MFRP Gene

Drugs & Compounds for MFRP Gene

No Compound Related Data Available

Transcripts for MFRP Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFRP Gene

No ASD Table

Relevant External Links for MFRP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MFRP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFRP Gene

NURSA nuclear receptor signaling pathways regulating expression of MFRP Gene:


mRNA Expression by UniProt/SwissProt for MFRP Gene:

Tissue specificity: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.

Evidence on tissue expression from TISSUES for MFRP Gene

  • Nervous system(4.4)
  • Eye(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MFRP Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with MFRP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MFRP Gene

Orthologs for MFRP Gene

This gene was present in the common ancestor of animals.

Orthologs for MFRP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MFRP 33
  • 99.54 (n)
-- 34
  • 99 (a)
(Bos Taurus)
Mammalia MFRP 33 34
  • 87.09 (n)
(Canis familiaris)
Mammalia MFRP 33
  • 86.87 (n)
(Mus musculus)
Mammalia Mfrp 33 16 34
  • 77.85 (n)
(Rattus norvegicus)
Mammalia Mfrp 33
  • 77.39 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 49 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 46 (a)
-- 34
  • 5 (a)
(Gallus gallus)
Aves MFRP 33
  • 62.15 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
(Danio rerio)
Actinopterygii LOC101885305 33
  • 56.37 (n)
  • 49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32702 34
  • 3 (a)
CG42255 34
  • 3 (a)
(Caenorhabditis elegans)
Secernentea ZC116.3 34
  • 3 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 10 (a)
Species where no ortholog for MFRP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MFRP Gene

Gene Tree for MFRP (if available)
Gene Tree for MFRP (if available)

Paralogs for MFRP Gene

Paralogs for MFRP Gene

(1) SIMAP similar genes for MFRP Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MFRP: view

Variants for MFRP Gene

Sequence variations from dbSNP and Humsavar for MFRP Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121908190 Pathogenic, Nanophthalmos 2 (NNO2) [MIM:609549] 119,345,516(-) TGCAA(C/T)ACAGC reference, missense, utr-variant-5-prime
rs121908189 Pathogenic 119,345,538(-) ATATC(C/T)AGGTG reference, stop-gained, utr-variant-5-prime
rs150232843 Pathogenic 119,346,116(+) CAGAG(C/T)CAGGA reference, stop-gained, utr-variant-5-prime
rs587776595 Pathogenic 119,342,978(+) AGGTG(-/G)GGGGG reference, frameshift-variant, utr-variant-5-prime
rs587776596 Pathogenic 119,345,563(+) GTGTT(-/G)GGGGG reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MFRP Gene

Variant ID Type Subtype PubMed ID
nsv826103 CNV gain 20364138

Variation tolerance for MFRP Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.22; 76.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFRP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFRP Gene

Disorders for MFRP Gene

MalaCards: The human disease database

(37) MalaCards diseases for MFRP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 5
  • isolated microphthalmia 5
nanophthalmos 2
  • nno2
  • microphthalmos
isolated microphthalmia
  • microphthalmia, isolated 6
optic disk drusen
  • drusen of optic disc
- elite association - COSMIC cancer census association via MalaCards
Search MFRP in MalaCards View complete list of genes associated with diseases


  • Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:17167404}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. {ECO:0000269 PubMed:15976030}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MFRP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MFRP: view

No data available for Genatlas for MFRP Gene

Publications for MFRP Gene

  1. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein. (PMID: 11263980) Katoh M (Biochemical and biophysical research communications 2001) 2 3 4 22 60
  2. Evaluation of MFRP as a candidate gene for high hyperopia. (PMID: 19169412) Wang P … Zhang Q (Molecular vision 2009) 3 22 45 60
  3. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PMID: 18334955) Metlapally R … Young TL (Molecular vision 2008) 3 22 45 60
  4. Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PMID: 18648522) Aung T … Vithana EN (Molecular vision 2008) 3 22 45 60
  5. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (PMID: 17167404) Ayala-Ramirez R … Zenteno JC (Molecular vision 2006) 3 4 22 60

Products for MFRP Gene

Sources for MFRP Gene

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