Human Gene MFRP (ENST00000360167.4) Description and Page Index
  Description: May play a role in eye development. (from UniProt Q9BY79)
RefSeq Summary (NM_015645): This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013].
Gencode Transcript: ENST00000360167.4
Gencode Gene: ENSG00000235718.9
Transcript (Including UTRs)
   Position: hg38 chr11:119,341,423-119,346,665 Size: 5,243 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr11:119,341,548-119,346,513 Size: 4,966 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:119,341,423-119,346,665)mRNA (may differ from genome)Protein (461 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIneXtProtPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: MFRP_HUMAN
DESCRIPTION: RecName: Full=Membrane frizzled-related protein; AltName: Full=Membrane-type frizzled-related protein;
FUNCTION: May play a role in eye development.
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein (Potential).
TISSUE SPECIFICITY: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
DEVELOPMENTAL STAGE: Expressed in fetal brain.
DISEASE: Defects in MFRP are the cause of nanophthalmos 2 (NNO2) [MIM:609549]. NNO2 is a rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
DISEASE: Defects in MFRP are the cause of microphthalmia isolated type 5 (MCOP5) [MIM:611040]. Microphthalmia is a clinically heterogeneous 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, cataract and other abnormalities like cataract may also be present. MCOP5 is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disc drusen.
SIMILARITY: Contains 2 CUB domains.
SIMILARITY: Contains 1 FZ (frizzled) domain.
SIMILARITY: Contains 2 LDL-receptor class A domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: MFRP
Diseases sorted by gene-association score: microphthalmia, isolated 5* (1369), nanophthalmos 2* (1328), microphthalmia* (402), isolated microphthalmia* (117), optic disk drusen (45), primary angle-closure glaucoma (22), acute closed-angle glaucoma (21), mixed germ cell cancer (17), microphthalmia, isolated 1 (15), achromatopsia 2 (15), macular dystrophy, dominant cystoid (14), macular retinal edema (14), retinal degeneration (13), cranial nerve disease (11), newborn respiratory distress syndrome (10), refractive error (10), autonomic nervous system neoplasm (9), kabuki syndrome 1 (9), cone dystrophy (8), peripheral nervous system neoplasm (8), tyrosinemia, type i (7), retinal degeneration, late-onset, autosomal dominant (7), optic nerve disease (6), amblyopia (6), persistent generalized lymphadenopathy (6), nervous system disease (5), achromatopsia (5), color blindness (5), enhanced s-cone syndrome (5), retinitis pigmentosa (5), primary bacterial infectious disease (5), macular degeneration, age-related, 1 (5), dextro-looped transposition of the great arteries (5), fundus dystrophy (5), eye disease (2), peripheral nervous system disease (2), leber congenital amaurosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.70152-0.426 Picture PostScript Text
3' UTR -52.40125-0.419 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000859 - CUB
IPR020067 - Frizzled_dom
IPR023415 - LDLR_class-A_CS
IPR002172 - LDrepeatLR_classA_rpt

Pfam Domains:
PF00431 - CUB domain
PF01392 - Fz domain
PF00057 - Low-density lipoprotein receptor domain class A

ModBase Predicted Comparative 3D Structure on Q9BY79
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0007601 visual perception
GO:0009792 embryo development ending in birth or egg hatching
GO:0042462 eye photoreceptor cell development
GO:0060041 retina development in camera-type eye

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AJ862823 - Homo sapiens bicistronic mRNA for membrane frizzled related protein (MFRP gene) and C1Q TNF related protein 5 (CTRP5 gene).
BC036675 - Homo sapiens cDNA clone IMAGE:5262504, **** WARNING: chimeric clone ****.
AK055132 - Homo sapiens cDNA FLJ30570 fis, clone BRAWH2005998, weakly similar to BONE MORPHOGENETIC PROTEIN 1 PRECURSOR (EC 3.4.24.-).
AB055505 - Homo sapiens mRNA for membrane-type frizzled-related protein MFRP, complete cds.
AK295203 - Homo sapiens cDNA FLJ58482 complete cds, highly similar to Membrane frizzled-related protein.
JD483589 - Sequence 464613 from Patent EP1572962.
JD530329 - Sequence 511353 from Patent EP1572962.
BC160191 - Synthetic construct Homo sapiens clone IMAGE:100064223, MGC:193306 membrane frizzled-related protein (MFRP) mRNA, encodes complete protein.
JD377337 - Sequence 358361 from Patent EP1572962.
JD335001 - Sequence 316025 from Patent EP1572962.
JD324762 - Sequence 305786 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK295203, B0YJ36, MFRP_HUMAN, Q335M3, Q96DQ9, Q9BY79, uc010rzg.1, uc010rzg.2
UCSC ID: uc010rzg.2
RefSeq Accession: NM_015645
Protein: Q9BY79 (aka MFRP_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.