MFRP - membrane frizzled-related protein Gene

Homo sapiens

Also known as RD6; NNO2; CTRP5; MCOP5

Gene ID: 83552 | Gene type: protein coding

About MFRP

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,338,942-119,346,705 (from NCBI)

This gene has 6 transcripts (splice variants), 159 orthologues, 35 paralogues and is associated with 7 phenotypes. Broad expression in gall bladder (RPKM 9.2), fat (RPKM 6.7) and 20 other tissues.

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]

MFRP Products(1)

mRNA	Protein	Name
NM_031433.4	NP_113621.1	membrane frizzled-related protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16600989	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFRP Protein Structure

CUB

Ldl_recept_a

CUB

0
100
200
300
400
500
579 a.a.

Protein Preferred Names

Protein Names

membrane frizzled-related protein

C1q and TNF related 5

Related Diseases

Diseases

Alias

Microphthalmia, Isolated 5

Isolated Microphthalmia 5	MCOP5
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen	Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome
Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen	Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome
Microphthalmia, Isolated, 5	Microphthalmia Mfrp-Related
Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen	Microphthalmia, Isolated, Type 5

Nanophthalmos 2

NNO2	Nanophthalmia 2
Nanophthalmos, Autosomal Recessive	Nanophthalmos, Type 2

Nanophthalmos

Nanophthalmia

Late-Onset Retinal Degeneration

LORD	Retinal Degeneration, Late-Onset, Autosomal Dominant
Autosomal Dominant Late-Onset Retinal Degeneration	Pigmentary Retinopathy
Retinal Degeneration, Late-Onset	Retinitis Pigmentosa

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Optic Disk Drusen

Optic Disc Drusen	Drusen Of Optic Disc
Optic Nerve Head Drusen	Drusen Optic Disc

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Retinal Degeneration

Degeneration Of Retina

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08386	MFRP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MFRP	RGD	RGD:1307477
Macaca mulatta	MFRP	VGNC	VGNC:101351
Mus musculus	MFRP	MGD	MGI:2385957
Bos taurus	MFRP	VGNC	VGNC:31430
Felis catus	MFRP	VGNC	VGNC:63473

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