Human Gene MFRP (ENST00000619721.6) from GENCODE V44
  Description: Homo sapiens membrane frizzled-related protein (MFRP), mRNA. (from RefSeq NM_031433)
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: ENST00000619721.6
Gencode Gene: ENSG00000235718.9
Transcript (Including UTRs)
   Position: hg38 chr11:119,338,942-119,346,705 Size: 7,764 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr11:119,341,548-119,346,513 Size: 4,966 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:119,338,942-119,346,705)mRNA (may differ from genome)Protein (579 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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 -70.20192-0.366 Picture PostScript Text
3' UTR -906.502017-0.449 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
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-  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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  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
  AF086482 - Homo sapiens full length insert cDNA clone ZD92F04.
AL110261 - Homo sapiens mRNA; cDNA DKFZp586B0621 (from clone DKFZp586B0621).
AF329841 - Homo sapiens complement-c1q tumor necrosis factor-related protein (CTRP5) mRNA, complete cds.
AY358383 - Homo sapiens clone DNA40592 CTRP5 (UNQ303) mRNA, complete cds.
BC029485 - Homo sapiens membrane frizzled-related protein, mRNA (cDNA clone IMAGE:5278184), complete cds.
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.-).
JD415769 - Sequence 396793 from Patent EP1572962.
JD164781 - Sequence 145805 from Patent EP1572962.
JD271919 - Sequence 252943 from Patent EP1572962.
JD559304 - Sequence 540328 from Patent EP1572962.
JD368763 - Sequence 349787 from Patent EP1572962.
JD043100 - Sequence 24124 from Patent EP1572962.
JD333930 - Sequence 314954 from Patent EP1572962.
JD186959 - Sequence 167983 from Patent EP1572962.
JD400175 - Sequence 381199 from Patent EP1572962.
JD473489 - Sequence 454513 from Patent EP1572962.
AB590791 - Synthetic construct DNA, clone: pFN21AE1221, Homo sapiens C1QTNF5 gene for C1q and tumor necrosis factor related protein 5, without stop codon, in Flexi system.
JD471905 - Sequence 452929 from Patent EP1572962.
JD225224 - Sequence 206248 from Patent EP1572962.
JD118173 - Sequence 99197 from Patent EP1572962.
JD477859 - Sequence 458883 from Patent EP1572962.
JD406193 - Sequence 387217 from Patent EP1572962.
AB055505 - Homo sapiens mRNA for membrane-type frizzled-related protein MFRP, complete cds.
JD389495 - Sequence 370519 from Patent EP1572962.
JD412499 - Sequence 393523 from Patent EP1572962.
JD117553 - Sequence 98577 from Patent EP1572962.
JD312680 - Sequence 293704 from Patent EP1572962.
JD152635 - Sequence 133659 from Patent EP1572962.
JD133183 - Sequence 114207 from Patent EP1572962.
JD521785 - Sequence 502809 from Patent EP1572962.
JD435567 - Sequence 416591 from Patent EP1572962.
JD062001 - Sequence 43025 from Patent EP1572962.
JD333806 - Sequence 314830 from Patent EP1572962.
JD422992 - Sequence 404016 from Patent EP1572962.
JD351657 - Sequence 332681 from Patent EP1572962.
JD424629 - Sequence 405653 from Patent EP1572962.
JD526441 - Sequence 507465 from Patent EP1572962.
JD519722 - Sequence 500746 from Patent EP1572962.
JD130303 - Sequence 111327 from Patent EP1572962.
JD478815 - Sequence 459839 from Patent EP1572962.
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: B0YJ36, ENST00000619721.1, ENST00000619721.2, ENST00000619721.3, ENST00000619721.4, ENST00000619721.5, MFRP_HUMAN, NM_031433, Q335M3, Q96DQ9, Q9BY79, uc001pwj.1, uc001pwj.2, uc001pwj.3, uc001pwj.4, uc001pwj.5
UCSC ID: ENST00000619721.6
RefSeq Accession: NM_015645
Protein: Q9BY79 (aka MFRP_HUMAN)
CCDS: CCDS8421.1

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