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MFRP Gene

protein-coding   GIFtS: 46
GCID: GC11M119218

Membrane Frizzled-Related Protein

  See MFRP-related diseases
at
MalaCards
 

Aliases
for MFRP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane Frizzled-Related Protein1 2
Membrane-Type Frizzled-Related Protein1 2 3
MCOP52 5
NNO22 5
Complement C1q Tumor Necrosis Factor-Related Protein 5 Precursor Variant 11
RD62

External Ids:    HGNC: 181211   Entrez Gene: 835522   Ensembl: ENSG000002357187   OMIM: 6062275   UniProtKB: Q9BY793   

Export aliases for MFRP gene to outside databases

Previous GC identifers: GC11M121209 GC11M120722 GC11M119244 GC11M118749 GC11M118714 GC11M115150


Summaries
for MFRP gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 optic disk drusen. An important paralog of this gene is TLL2.

UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79
Function: May play a role in eye development

Gene Wiki entry for MFRP Gene


Genomic Views
for MFRP gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus		 Regulatory elements:
   Search for regulatory transcription factor binding sites for MFRP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MFRP promoter sequence
   Search Chromatin IP Primers for MFRP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MFRP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

MFRP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFRP gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M119218:  view genomic region     (about GC identifiers)

Start:
 119,209,652 bp from pter      End:
 119,217,383 bp from pter
Size:
 7,732 bases      Orientation:
 minus strand

1 alternative location:
Chr11- 119,209,652-119,217,368     

Proteins
for MFRP gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79 (See protein sequence)
Recommended Name: Membrane frizzled-related protein  
Size: 579 amino acids; 62212 Da
Developmental stage: Expressed in fetal brain
Miscellaneous: This protein is produced by a bicistronic gene which also produces the C1QTNF5 protein from a
non-overlapping reading frame
Secondary accessions: B0YJ36 B0YJ37 Q335M3 Q96DQ9
Alternative splicing: 2 isoforms:  Q9BY79-1   Q9BY79-2   

Explore the universe of human proteins at neXtProt for MFRP: NX_Q9BY79

Explore proteomics data for MFRP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn227, Asn415

    • See MFRP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_113621.1  
    ENSEMBL proteins: 
     ENSP00000391664   ENSP00000353291   ENSP00000450509  

    MFRP Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MFRP
    OriGene Custom MassSpec
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    Novus Biologicals MFRP Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MFRP

         		 Search eBioscience for Proteins for MFRP 

         		antibodies-online proteins for MFRP (2 products) 

         		antibodies-online peptides for MFRP

    MFRP Antibody Products:

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    Abcam antibodies for MFRP
    Cloud-Clone Corp. Antibodies for MFRP
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    antibodies-online antibodies for MFRP (14 products) 

    MFRP Assay Products:

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    Cloud-Clone Corp. ELISAs for MFRP
    Cloud-Clone Corp. CLIAs for MFRP
    Search eBioscience for ELISAs for MFRP 
    antibodies-online kits for MFRP (4 products) 

    Domains /
    Families
    for MFRP gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 4 InterPro protein domains:
     IPR023415 LDLR_class-A_CS
     IPR020067 Frizzled_dom
     IPR000859 CUB_dom
     IPR002172 LDrepeatLR_classA_rpt

    Graphical View of Domain Structure for InterPro Entry Q9BY79

    ProtoNet protein and cluster: Q9BY79

    2 Blocks protein domains:
    IPB000859 CUB domain
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 FZ (frizzled) domain
    Similarity: Contains 2 LDL-receptor class A domains


    Find genes that share domains with MFRP           About GenesLikeMe


    Function
    for MFRP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MFRP_HUMAN, Q9BY79
    Function: May play a role in eye development

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with MFRP           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Mfrp):
     nervous system  pigmentation  vision/eye 

    Find genes that share phenotypes with MFRP           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MFRP

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat MFRP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MFRP (see all 10):
    hsa-miR-3194-5p hsa-miR-4251 hsa-miR-4306 hsa-miR-4290 hsa-miR-3921 hsa-miR-3125 hsa-miR-3916 hsa-miR-185
    SwitchGear 3'UTR luciferase reporter plasmid: MFRP 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for MFRP
    Predesigned siRNA for gene silencing in human, mouse, rat MFRP

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for MFRP
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    GenScript: all cDNA clones in your preferred vector: MFRP (NM_031433)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MFRP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFRP

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MFRP 
    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP


    Localization
    for MFRP gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    MFRP_HUMAN, Q9BY79: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane3
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane TAS11263980

    Find genes that share ontologies with MFRP           About GenesLikeMe


    Pathways & Interactions
    for MFRP gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MFRP
    Interactions:

        Search GeneGlobe Interaction Network for MFRP

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for MFRP (Q9BY793 ENSP000003916644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    SLC2A4P146723I2D: score=1 
    C1QTNF5ENSP000004023894STRING: ENSP00000402389
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009790embryo development NAS11263980

    Find genes that share ontologies with MFRP           About GenesLikeMe



    Drugs & Compounds
    for MFRP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MFRP



    Transcripts
    for MFRP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MFRP gene: 
    NM_031433.3  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449574(uc010rzg.1) ENST00000360167 ENST00000529147 ENST00000526059
    ENST00000555262(uc001pwj.2)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat MFRP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MFRP (see all 10):
    hsa-miR-3194-5p hsa-miR-4251 hsa-miR-4306 hsa-miR-4290 hsa-miR-3921 hsa-miR-3125 hsa-miR-3916 hsa-miR-185
    SwitchGear 3'UTR luciferase reporter plasmid: MFRP 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MFRP
    Clone
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    OriGene ORF clones in mouse, rat for MFRP
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    GenScript: all cDNA clones in your preferred vector: MFRP (NM_031433)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFRP
    Primer
    Products:            		OriGene qSTAR qPCR primer pairs in human, mouse for MFRP
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MFRP
      QuantiTect SYBR Green Assays in human, mouse, rat MFRP
      QuantiFast Probe-based Assays in human, mouse, rat MFRP

    Selected AceView cDNA sequences (see all 96):

    BM966954 AI783751 AI619600 BM722889 BM893691 BM021381 BM924569 AB055505 
    BM893587 CA397875 CK904254 BM052913 AI805087 AL110261 AF086482 BM544255 
    BM684116 BM966810 BM929480 CA390714 NM_015645 BU742804 CF994392 BM673416 

    GeneLoc Exon Structure


    Expression
    for MFRP gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MFRP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MFRP Expression
    About this image

    MFRP Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    MFRP Protein Expression

    UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79
    Tissue specificity: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent
    in hippocampus and corpus callosum. Expressed in keratinocytes

        Custom PCR Arrays for MFRP
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP

    Orthologs
    for MFRP gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MFRP gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Mfrp1 , 5 membrane-type frizzled-related protein1, 5 77.85(n)1
    69.72(a)1    		   9 (24.60 cM)5
    2591721  NM_147126.31  NP_667337.11 
     441017385 
    chicken
    (Gallus gallus)    		 Aves MFRP1 membrane frizzled-related protein 62.15(n)
    52.78(a)    		   100859299  XM_003642601.2  XP_003642649.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 Uncharacterized protein
    		 53(a)
    		 1 → many
    		 GL343797.1(1526-16473)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1018853051 membrane frizzled-related protein-like 56.37(n)
    48.44(a)    		   101885305  XM_005173345.1  XP_005173402.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG422556
    CG327026
    		 --
    		 3(a)
    3(a)
    		 many ↔ many
    many ↔ many
    		 3L(11795051-11807855)
    X(9452698-9465341)
    worm
    (Caenorhabditis elegans)    		 Secernentea ZC116.36
    		 Protein ZC116.3 (ZC116.3) mRNA, complete cds
    		 3(a)
    		 1 → many
    		 V(12611329-12628738) WBGene00013855


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

    Paralogs
    for MFRP gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MFRP gene
    TLL22  CUBN2  CDCP22  PCOLCE2  BMP12  PCOLCE22  NETO22  NETO12  
    TLL12  
    1 SIMAP similar gene for MFRP using alignment to 2 protein entries:     MFRP_HUMAN (see all proteins):
    CUBN

    Find genes that share paralogs with MFRP           About GenesLikeMe



    Genomic Variants
    for MFRP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    6 SNPs for MFRP    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0256944
    		Nanophthalmos 2 (NNO2)4--see VAR_0256942 I T mis40--------
    VAR_0256954
    		----see VAR_0256952 G S mis40--------
    rs38147621,2,4
    		----see VAR_0256932 mis40--------
    rs46399501,2,4
    		----see VAR_0256922 mis40--------
    VAR_0256964
    		----see VAR_0256962 Q H mis40--------
    rs1394363961,2,4
    		----see VAR_0256912 mis40--------

    HapMap Linkage Disequilibrium report for MFRP (119209652 - 119217383 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MFRP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898417CNV Loss21882294
    nsv898418CNV Loss21882294
    nsv826103CNV Gain20364138

    Human Gene Mutation Database (HGMD): MFRP
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MFRP
    DNA2.0 Custom Variant and Variant Library Synthesis for MFRP

    Disorders / Diseases
    for MFRP gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 606227   
    OMIM disorders: 611040  609549  
    UniProtKB/Swiss-Prot: MFRP_HUMAN, Q9BY79
  • Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized
    by extreme hyperopia and small functional eyes. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

    • 9 diseases for MFRP:    
    About MalaCards
    nanophthalmos 2    optic disk drusen    isolated microphthalmia 5    late-onset retinal degeneration
    isolated microphthalmia    pigmentary retinopathy    retinitis pigmentosa    microphthalmia
    hyperopia

    4 inferred disease relationships from the University of Copenhagen DISEASES database for MFRP:
    Optic disk drusen     Microphthalmia     Hyperopia     Retinal degeneration

    Find genes that share disorders with MFRP           About GenesLikeMe

    3 Novoseek inferred disease relationships for MFRP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinal degeneration 70.6 7 17122143 (2), 12140190 (1), 16352475 (1), 17167404 (1)
    retinitis pigmentosa 68.3 1 17167404 (1)
    tumors 0 2 11263980 (1), 17122143 (1)

    Genetic Association Database (GAD): MFRP
    Human Genome Epidemiology (HuGE) Navigator: MFRP (3 documents)

    Export disorders for MFRP gene to outside databases

    Publications
    for MFRP gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MFRP gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with MFRP)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type frizzled-related protein. (PubMed id 11263980)1, 2, 3, 9 Katoh M. (Biochem. Biophys. Res. Commun. 2001)
    2. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PubMed id 18334955)1, 4, 9 Metlapally R....Young T.L. (Mol. Vis. 2008)
    3. Evaluation of MFRP as a candidate gene for high hyperopia. (PubMed id 19169412)1, 4, 9 Wang P....Zhang Q. (Mol. Vis. 2009)
    4. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (PubMed id 17167404)1, 2, 9 Ayala-Ramirez R.... Zenteno J.C. (Mol. Vis. 2006)
    5. Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PubMed id 18648522)1, 4, 9 Aung T....Vithana E.N. (Mol. Vis. 2008)
    6. Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations. (PubMed id 16352475)1, 2, 9 Pauer G.J.T.... Hagstrom S.A. (Ophthalmic Genet. 2005)
    7. Bone morphogenetic protein-2 modulates Wnt and frizzled expression and enhances the canonical pathway of Wnt signaling in normal keratinocytes. (PubMed id 16442268)1, 2 Yang L.... Hashimoto K. (J. Dermatol. Sci. 2006)
    8. Extreme hyperopia is the result of null mutations in MFRP, which encodes a frizzled-related protein. (PubMed id 15976030)1, 2 Sundin O.H.... Weinberg E.M. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    9. Sequencing arrays for screening multiple genes associated with early- onset human retinal degenerations on a high-throughput platform. (PubMed id 16123440)1, 2 Mandal M.N.A.... Ayyagari R. (Invest. Ophthalmol. Vis. Sci. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    External Searches for MFRP gene

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    Genome Databases showing MFRP gene

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    Entrez Gene: 83552 HGNC: 18121 AceView: C1QTNF5andMFRP Ensembl:ENSG00000235718 euGenes: HUgn83552
    ECgene: MFRP H-InvDB: MFRP

    Other Databases showing MFRP gene

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    Specialized Databases showing MFRP gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    PharmGKB entry for MFRP Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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