MFRP - membrane frizzled-related protein Gene

Also Known as RD6; NNO2; CTRP5; MCOP5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83552

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	References	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

Fz

0
100
200
300
400
500
579 a.a.

Protein Preferred Names	Protein Names
membrane frizzled-related protein	C1q and TNF related 5

MFRP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	MFRP	Q9BY79	C1qtnf5	Mus musculus	Q8K479	Anti Tag CoIP	17122143
Intra	MFRP	Q9BY79	Q9BXJ0-PRO_0000003535	Homo sapiens	Q9BXJ0-PRO_0000003535	Y2H	16600989
Intra	MFRP	Q9BY79	Q9BXJ0-PRO_0000003535	Homo sapiens	Q9BXJ0-PRO_0000003535	Pull Down	16600989
Intra	MFRP	Q9BY79	Q9BXJ0-PRO_0000003535	Homo sapiens	Q9BXJ0-PRO_0000003535	Confocal	16600989
Intra	MFRP	Q9BY79	Q9BXJ0-PRO_0000003535	Homo sapiens	Q9BXJ0-PRO_0000003535	Anti Tag CoIP	16600989

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01731	C1QTNF5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08386	MFRP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22233	Mfrp Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28755	Mfrp Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MFRP	NCBI