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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
  • Complement C1q Tumor Necrosis Factor-Related Protein 5 Precursor Variant 1 2
  • 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 Nanophthalmos 2 and Microphthalmia, Isolated 5. Among its related pathways are Akt Signaling Pathway. An important paralog of this gene is TLL1.

UniProtKB/Swiss-Prot for MFRP Gene

  • May play a role in eye development.

Gene Wiki entry for MFRP Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MFRP on UCSC Golden Path with GeneCards custom track

Genomic Location for MFRP Gene

Chromosome:
11
Start:
119,338,934 bp from pter
End:
119,346,673 bp from pter
Size:
7,740 bases
Orientation:
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:
    Q9BY79-MFRP_HUMAN
    Recommended name:
    Membrane frizzled-related protein
    Protein Accession:
    Q9BY79
    Secondary Accessions:
    • B0YJ36
    • B0YJ37
    • B4DHN8
    • Q335M3
    • Q96DQ9

    Protein attributes for MFRP Gene

    Size:
    579 amino acids
    Molecular mass:
    62212 Da
    Quaternary structure:
    • Interacts with C1QTNF5.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for MFRP Gene

Proteomics data for MFRP Gene at MOPED

Post-translational modifications for MFRP Gene

  • Glycosylation at Asn 227 and Asn 415
  • 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

Suggested Antigen Peptide Sequences for MFRP Gene

Graphical View of Domain Structure for InterPro Entry

Q9BY79

UniProtKB/Swiss-Prot:

MFRP_HUMAN :
  • Contains 2 CUB domains.
Domain:
  • Contains 2 CUB domains.
  • Contains 1 FZ (frizzled) domain.
  • Contains 2 LDL-receptor class A domains.
genes like me logo Genes that share domains with MFRP: view

No data available for Gene Families for MFRP Gene

Function for MFRP Gene

Molecular function for MFRP Gene

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for MFRP

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

COMPARTMENTS
Jensen Localization Image for MFRP Gene 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:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with MFRP: view

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
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

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

No ASD Table

Relevant External Links for MFRP Gene

GeneLoc Exon Structure for
MFRP
ECgene alternative splicing isoforms for
MFRP

Expression for MFRP Gene

mRNA expression in normal human tissues for MFRP Gene

mRNA Expression by UniProt/SwissProt for MFRP Gene

Q9BY79-MFRP_HUMAN
Tissue specificity: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
genes like me logo Genes that share expression patterns with MFRP: view

Primer Products

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
cow
(Bos Taurus)
Mammalia MFRP 35
  • 87.09 (n)
  • 83.51 (a)
MFRP 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MFRP 35
  • 86.87 (n)
  • 83.77 (a)
mouse
(Mus musculus)
Mammalia Mfrp 35
  • 77.85 (n)
  • 69.72 (a)
Mfrp 16
Mfrp 36
  • 69 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia MFRP 35
  • 99.54 (n)
  • 98.96 (a)
-- 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mfrp 35
  • 77.39 (n)
  • 67.99 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 49 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 5 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MFRP 35
  • 62.15 (n)
  • 52.78 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC101885305 35
  • 56.37 (n)
  • 48.44 (a)
MFRP 36
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32702 36
  • 3 (a)
ManyToMany
CG42255 36
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 36
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 10 (a)
ManyToMany
Species with no ortholog for MFRP:
  • 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

ENSEMBL:
Gene Tree for MFRP (if available)
TreeFam:
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
VAR_025691 -
VAR_025692 -
VAR_025693 -
VAR_025694 Nanophthalmos 2 (NNO2)
VAR_025695 -

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

Variant ID Type Subtype PubMed ID
nsv898417 CNV Loss 21882294
nsv898418 CNV Loss 21882294
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)
MFRP

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

Disorders for MFRP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nanophthalmos 2
  • nanophthalmia 2
microphthalmia, isolated 5
  • isolated microphthalmia 5
microphthalmia
  • 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

UniProtKB/Swiss-Prot

MFRP_HUMAN
  • 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)
MFRP
Human Genome Epidemiology (HuGE) Navigator
MFRP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFRP
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. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 23 67
  2. A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. (PMID: 20361016) Mukhopadhyay R. … Webster A.R. (Mol. Vis. 2010) 3 23
  3. Evaluation of MFRP as a candidate gene for high hyperopia. (PMID: 19169412) Wang P. … Zhang Q. (Mol. Vis. 2009) 3 23
  4. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. (PMID: 19753314) Zenteno J.C. … Quiroz-Reyes M.A. (Mol. Vis. 2009) 3 23
  5. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PMID: 18334955) Metlapally R. … Young T.L. (Mol. Vis. 2008) 3 23

Products for MFRP Gene

Sources for MFRP Gene

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