MFRP membrane frizzled-related protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFRPprovided by HGNC
Official Full Name: membrane frizzled-related proteinprovided by HGNC
Primary source: HGNC:HGNC:18121
See related: Ensembl:ENSG00000235718 MIM:606227; AllianceGenome:HGNC:18121
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; CTRP5; MCOP5
Summary: 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]
Expression: Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (119338942..119346705, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (119359579..119367342, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (119209652..119217415, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension.
Title: Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension.
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Title: Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Title: Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
Title: A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Title: Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Title: Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Title: The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
MFRP mutation is associated with posterior microphthalmos, retinitis pigmentosa, and foveoschisis.
Title: Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
This is the first trio-based whole-genome sequencing (WGS), study for nanophthalmos, revealing the potential role of de novo mutations (DNMs) in MYRF and rare inherited genetic variants in PRSS56 and MFRP.
Title: Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes.
Title: Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Isolated microphthalmia 5 MedGen: C1970236 OMIM: 611040 GeneReviews: Not available	Compare labs
Nanophthalmos 2 MedGen: C1836006 OMIM: 609549 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S869E (e-PCR)
- UniSTS:16395

MFRP__6310 (e-PCR)
- UniSTS:464051

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in embryo development ending in birth or egg hatching	NAS Non-traceable Author Statement more info	PubMed
involved_in eye photoreceptor cell development	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: membrane frizzled-related protein

Names: C1q and TNF related 5; membrane-type frizzled-related protein

NCBI Reference Sequences (RefSeq)

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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_012235.1 RefSeqGene

Range

4969..12732

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_031433.4 → NP_113621.1 membrane frizzled-related protein

See identical proteins and their annotated locations for NP_113621.1

Status: REVIEWED

Source sequence(s)

AP003396

Consensus CDS

CCDS8421.1

UniProtKB/Swiss-Prot

B0YJ36, B0YJ37, B4DHN8, Q335M3, Q96DQ9, Q9BY79

Related

ENSP00000481824.1, ENST00000619721.6

Conserved Domains (3) summary

cd00041
Location:301 → 411

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

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 ...

pfam01392
Location:466 → 569

Fz; Fz domain