MFRP membrane frizzled-related protein [Homo sapiens] - Gene

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Summary

Official Symbol: MFRPprovided by HGNC
Official Full Name: membrane frizzled-related proteinprovided by HGNC
Primary source: HGNC:18121
See related: Ensembl:ENSG00000235718; Ensembl:ENSG00000259159; HPRD:06941; MIM:606227; Vega:OTTHUMG00000166199; Vega:OTTHUMG00000171803
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RD6; NNO2; MCOP5; FLJ30570; MGC32938; DKFZp586B0621
Summary: This gene encodes a member of the frizzled-related proteins. The encoded protein may play a role in eye development, as 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 mRNA, which also encodes C1q and tumor necrosis factor related protein 5.[provided by RefSeq, Feb 2009]

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Genomic context

Location :: 11q23

Sequence :: Chromosome: 11; NC_000011.9 (119209652..119217383, complement)

See MFRP in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In both previous reports of PMPRS, mutations in membrane type frizzled-related protein (MFRP) gene (located at 11q23) was demonstrated to be present
Title: Posterior microphthalmos pigmentary retinopathy syndrome.
Three novel MFRP mutations that expand the phenotypic data available on patients with MFRP mutations, are reported.
Title: A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
This is the first demonstration of compound heterozygosity for MFRP mutations.
Title: Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
MFRP is less likely to play a major role in physiologic high hyperopia.
Title: Evaluation of MFRP as a candidate gene for high hyperopia.
Describes the role of CTRP5 in disease, in addition to the bicistronic nature of CTRP5 and MFRP, which is confirmed by RT-PCR.
Title: Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
Significant associations between angle-closure glaucoma and sequence variants in the MFRP gene, was analyzed.
Title: The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
These results do not support a significant role for CHX10 or MFRP mutations in primary angle closure glaucoma.
Title: Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
The novel frameshift mutation identified in the family described here validates MFRP as the gene responsible for this particular disease, which characteristically involves structures located at the posterior segment of the eye.
Title: A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
These results indicate that the MFRP gene may not play a role in regulating ocular axial length in these phenotypes.
Title: Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
Patients without MFRP gene function exhibit no correction of refractive error during childhood, which suggests that this gene is essential for emmetropization, a complex process by which vision regulates axial growth of the eye.
Title: Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.

Submit: New GeneRIF Correction See all (14)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q9BY79	Q9BXJ0	C1QTNF5		HPRD	PubMed
BioGRID:123684	BioGRID:113164	UBC		BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
embryo development	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
integral to membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: membrane frizzled-related protein

Names: membrane frizzled-related protein; membrane-type frizzled-related protein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009626.1 Reference

Range

501..8232

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GenBank, FASTA, Sequence Viewer (Graphics)
NG_012235.1 RefSeqGene

Range

5001..12732

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_031433.2 → NP_113621.1 membrane frizzled-related protein

Status: REVIEWED

Source sequence(s)

AB055505, AJ862823, AK055132, AL110261, BC029485

Consensus CDS

CCDS8421.1

UniProtKB/Swiss-Prot

Q9BXJ0

UniProtKB/Swiss-Prot

Q9BY79

Related

ENSP00000450509, ENST00000555262

Conserved Domains (3) summary

cd00041
Location:301 – 413
Blast Score: 306

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00112
Location:260 – 294
Blast Score: 111

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cd07066
Location:466 – 579
Blast Score: 253

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

119209652..119217383, complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

115150351..115158082, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP003396.1 (5474..13205)	None
genomic	CH471065.1	EAW67483.1
genomic	EF444994.1	ACA06013.1
		ACA06015.1
genomic	EF444994.1	ACA06013.1
		ACA06015.1
mRNA	AB055505.1	BAB39771.1
mRNA	AJ862823.1	CAH93521.1
mRNA	AK055132.1	BAB70859.1
mRNA	AK295203.1	BAG58200.1
mRNA	AL110261.1	None
mRNA	BC029485.1	None
mRNA	BC036675.1	None
other-genetic	BC160191.1	AAI60191.1