Seroatlas · Human Serome Atlas

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 ADLEACAQP

LocalizationUniProt · 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.

Disease | GeneticClinVar

65 pathogenic / likely-pathogenic of 630 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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

Cellular components

Protein domainsUniProt · Pfam · InterPro

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.

Canonical record: https://seroatlas.com/gene/MFRP. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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