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FLASH GENE
Symbol MFRP contributors: mct - updated : 14-01-2011
HGNC name membrane frizzled-related protein
HGNC id 18121
Corresponding disease
MPRF posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen
NNO2 nanophthalmos 2
Location 11q23.3      Physical location : 119.209.651 - 119.217.383
Synonym name complement C1q tumor necrosis factor-related protein 5 precursor
Synonym symbol(s) FLJ30570, C1QTNF5, rd6, MGC32938, DKFZp586B0621
DNA
TYPE functioning gene
STRUCTURE 7.73 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
BCL9L 11q23.3 B-cell CLL/lymphoma 9-like UPK2 11q23 uroplakin 2 LOC283150 11q23.3 hypothetical protein LOC283150 DLNB14 11q23.3 similar to DLNB14 RPS25 11q23.3 ribosomal protein S25 TRAPPC4 11q23.3 trafficking protein particle complex 4 SLC37A4 11q23.3 solute carrier family 37 (glycerol-6-phosphate transporter), member 4 HYOU1 11q23.1-q23.3 hypoxia up-regulated 1 VPS11 11q23 vacuolar protein sorting 11 (yeast) HMBS 11q23.3 hydroxymethylbilane synthase H2AFX 11q23.3 H2A histone family, member X DPAGT1 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) KIAA0285 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) MIZF 11q23.3 MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein ABCG4 11q23.3 ATP-binding cassette, sub-family G (WHITE), member 4 NOD9 11q23.3 NOD9 protein PDZK2 11q23.3 PDZ domain containing 2 LOC387812 11 LOC387812 CBL 11q23.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence MCAM 11q23.3 melanoma cell adhesion molecule RNF26 11q23 ring finger protein 26 C1QTNF5 11q23.3 C1q and tumor necrosis factor related protein 5 MFRP 11q23 membrane frizzled-related protein USP2 11q23.3 ubiquitin specific protease 2 LOC94105 11q22.3-q23 Thy-1 co-transcribed THY1 11q23.3 Thy-1 cell surface antigen LOC387813 11 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 PVRL1 11q23-q24 poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3927 - 579 - 2008 15976030
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • CRD : frizzled type cystein rich domain, essential for WNT binding and signaling
  • two MFRP domains
  • two CUB domains
  • one C1q domain
  • one collagen-like domain
  • HOMOLOGY
    interspecies ortholog to murine Mfrp
    Homologene
    FAMILY
  • frizzled-related protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type II transmembrane protein
    basic FUNCTION
  • acting as a possible regulator of the WNT signaling pathway
  • playing a role in regulating axial length of the eye
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to WNT maybe
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NNO2 , MPRF
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS