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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

GeneHancer (GH) Regulatory Elements for MFRP Gene

Promoters and enhancers for MFRP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I119346 Enhancer 0.5 ENCODE 550.8 -0.8 -764 1.1 NFIL3 HLF IKZF1 ZFP36 ZMYM3 EZH2 ZKSCAN1 C1QTNF5 MFRP RNF26 USP2 GC11M119369
GH11I119347 Promoter 0.5 EPDnew 550.8 +0.0 36 0.1 C1QTNF5 MFRP ENSG00000245385
GH11I119374 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.8 -30.3 -30341 5.5 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF143 SP5 NFYC USP2 THY1 MFRP C1QTNF5 ENSG00000254740
GH11I119366 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -22.9 -22896 6.4 HDGF PKNOX1 SMAD1 FOXA2 ARID4B DMAP1 YY1 FOS SP5 MXD4 THY1 C1QTNF5 ABCG4 MFRP USP2 NLRX1 H2AFX GC11M119369 ENSG00000254740
GH11I119481 Enhancer 1.2 Ensembl ENCODE 11.2 -134.9 -134874 1.1 CLOCK FOXA2 MLX ARID4B SIN3A ZNF48 SLC30A9 ARID2 ZNF207 ZNF143 C1QTNF5 MFRP THY1 GC11P119503 GC11P119452 USP2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFRP on UCSC Golden Path with GeneCards custom track

Genomic Locations for MFRP Gene

Genomic Locations for MFRP Gene
chr11:119,338,934-119,346,673
(GRCh38/hg38)
Size:
7,740 bases
Orientation:
Minus strand
chr11:119,209,652-119,217,383
(GRCh37/hg19)

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

Post-translational modifications for MFRP Gene

  • Glycosylation at posLast=227227 and posLast=415415

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

COMPARTMENTS
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
MFRP
ECgene alternative splicing isoforms for
MFRP

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:

MFRP

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.

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
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia MFRP 33
  • 99.54 (n)
-- 34
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MFRP 33 34
  • 87.09 (n)
dog
(Canis familiaris)
Mammalia MFRP 33
  • 86.87 (n)
mouse
(Mus musculus)
Mammalia Mfrp 33 16 34
  • 77.85 (n)
rat
(Rattus norvegicus)
Mammalia Mfrp 33
  • 77.39 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 49 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 46 (a)
ManyToMany
-- 34
  • 5 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MFRP 33
  • 62.15 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 53 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC101885305 33
  • 56.37 (n)
MFRP 34
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32702 34
  • 3 (a)
ManyToMany
CG42255 34
  • 3 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZC116.3 34
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 10 (a)
ManyToMany
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

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 Variation AA Info Type
rs1032711467 uncertain-significance, Retinal degeneration 119,341,370(-) G/A 3_prime_UTR_variant
rs111033578 conflicting-interpretations-of-pathogenicity, Late-onset retinal degeneration 119,339,574(-) G/C 3_prime_UTR_variant
rs11217241 benign, likely-benign, not specified, Retinal degeneration, Microphthalmia, isolated 6 119,342,593(-) C/A/T intron_variant
rs121908189 pathogenic, Nanophthalmos 2, Microphthalmia, isolated 5 119,345,538(-) G/A coding_sequence_variant, stop_gained
rs121908190 pathogenic, Nanophthalmos 2, Nanophthalmos 2 (NNO2) [MIM:609549] 119,345,516(-) A/G coding_sequence_variant, missense_variant

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)

Additional Variant Information for MFRP Gene

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

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

Disorders for MFRP Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
microphthalmia, isolated 5
  • mcop5
nanophthalmos 2
  • nno2
microphthalmia
  • microphthalmos
optic disk drusen
  • drusen of optic disc
primary angle-closure glaucoma
  • primary angle closure glaucoma
- 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.

Additional Disease Information for MFRP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 58
  2. Evaluation of MFRP as a candidate gene for high hyperopia. (PMID: 19169412) Wang P … Zhang Q (Molecular vision 2009) 3 22 44 58
  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 44 58
  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 44 58
  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 58

Products for MFRP Gene

Sources for MFRP Gene

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