MFRP
Membrane frizzled-related protein
Also known as: C1QTNF5, FLJ30570, MFRP_HUMAN, NNO2, rd6
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BY79
- Gene
- MFRP
- Ensembl
- ENSG00000235718
- Chromosome
- 11
- Canonical length
- 579 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
579 residues, UniProt reviewed canonical sequence.
>Q9BY79|MFRP
1 MKDFSDVILC MEATESSKTE FCNPAFEPES GPPCPPPVFP EDASYSVPAP WHGRRPRGLR
61 PDCRFSWLCV LLLSSLLLLL LGLLVAIILA QLQAAPPSGA SHSPLPAGGL TTTTTTPTIT
121 TSQAAGTPKG QQESGVSPSP QSTCGGLLSG PRGFFSSPNY PDPYPPNTHC VWHIQVATDH
181 AIQLKIEALS IESVASCLFD RLELSPEPEG PLLRVCGRVP PPTLNTNASH LLVVFVSDSS
241 VEGFGFHAWY QAMAPGRGSC AHDEFRCDQL ICLLPDSVCD GFANCADGSD ETNCSAKFSG
301 CGGNLTGLQG TFSTPSYLQQ YPHQLLCTWH ISVPAGHSIE LQFHNFSLEA QDECKFDYVE
361 VYETSSSGAF SLLGRFCGAE PPPHLVSSHH ELAVLFRTDH GISSGGFSAT YLAFNATENP
421 CGPSELSCQA GGCKGVQWMC DMWRDCTDGS DDNCSGPLFP PPELACEPVQ VEMCLGLSYN
481 TTAFPNIWVG MITQEEVVEV LSGYKSLTSL PCYQHFRRLL CGLLVPRCTP LGSVLPPCRS
541 VCQEAEHQCQ SGLALLGTPW PFNCNRLPEA ADLEACAQPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MFRP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 315 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 315 nTPM
- hippocampal formation: 0.3 nTPM
- hypothalamus: 0.1 nTPM
- midbrain: 0.1 nTPM
- retina: 0.1 nTPM
- spinal cord: 0.1 nTPM
Single-cell type
- retinal pigment epithelial cells: 81 nCPM
- choroid plexus epithelial cells: 16 nCPM
- ependymal cells: 0.5 nCPM
- mast cells: 0.2 nCPM
- pituitary stem cells: 0.2 nCPM
- cardiomyocytes: 0.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- choroid plexus: 760 nTPM
- hippocampal formation: 50 nTPM
- thalamus: 7.8 nTPM
- cerebellum: 7.2 nTPM
- midbrain: 3.2 nTPM
- cerebral cortex: 2.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MFRP.
Disease | AllUniProt
Conditions MFRP is implicated in, by any mechanism.
- Nanophthalmos 2 (NNO2) MIM:609549
- Microphthalmia, isolated, 5 (MCOP5) MIM:611040
Disease | GeneticClinVar
65 pathogenic / likely-pathogenic of 630 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Isolated microphthalmia 5
- Nanophthalmos 2
- Retinal dystrophy
- MFRP-related disorder
- Nanophthalmia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.47
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- embryo development ending in birth or egg hatching
- eye photoreceptor cell development
- retina development in camera-type eye
- visual perception
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CUB domain
- Low-density lipoprotein (LDL) receptor class A repeat
- Frizzled domain
- Low-density lipoprotein (LDL) receptor class A, conserved site
- Spermadhesin, CUB domain superfamily
- LDL receptor-like superfamily
- Frizzled cysteine-rich domain superfamily
- Low-density lipoprotein receptor domain class A
- CUB domain
- Fz domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MFRP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MFRP as an antibody target. Whether an autoantibody or antibody against MFRP could matter depends on whether native MFRP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MFRP is annotated at the cell surface, where native MFRP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MFRP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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