MFRP Gene

Aliases
for MFRP gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC11M121209 GC11M120722 GC11M119244 GC11M118749 GC11M118714 GC11M115150

Summaries
for MFRP gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for MFRP gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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SwitchGear Promoter luciferase reporter plasmids (see all 2): MFRP promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MFRP

MFRP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M119218:  view genomic region     (about GC identifiers)

Proteins
for MFRP gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for MFRP: NX_Q9BY79

Explore proteomics data for MFRP at MOPED

Post-translational modifications: 

MFRP Human Recombinant Protein Products:

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	antibodies-online proteins for MFRP (2 products)
	antibodies-online peptides for MFRP

MFRP Antibody Products:

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MFRP Assay Products:

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	antibodies-online kits for MFRP (4 products)

Domains /
Families
for MFRP gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q9BY79

Find genes that share domains with MFRP           About GenesLikeMe

Function
for MFRP gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

(inferred from 2 alleles) (MGI details for Mfrp)

genOway: Develop your customized and physiologically relevant rodent model for MFRP

miRNA Products:		Block miRNA regulation of human, mouse, rat MFRP using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate MFRP (see all 10):
		hsa-miR-3194-5p hsa-miR-4251 hsa-miR-4306 hsa-miR-4290 hsa-miR-3921 hsa-miR-3125 hsa-miR-3916 hsa-miR-185
		SwitchGear 3'UTR luciferase reporter plasmid: MFRP 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for MFRP
		Predesigned siRNA for gene silencing in human, mouse, rat MFRP

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for MFRP

Clone Products:		OriGene clones in human, mouse for MFRP (see all 6) OriGene ORF clones in mouse, rat for MFRP OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MFRP (NM_031433)
		Browse Sino Biological Human cDNA Clones
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFRP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MFRP
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP

Localization
for MFRP gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
extracellular	4
plasma membrane	3
cytosol	1
endoplasmic reticulum	1
nucleus	1
peroxisome	1

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Gene Ontology (GO): 1 cellular component term:    About this table

Pathways & Interactions
for MFRP gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for MFRP gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for MFRP gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for MFRP gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MFRP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for MFRP
		Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MFRP
		QuantiTect SYBR Green Assays in human, mouse, rat MFRP
		QuantiFast Probe-based Assays in human, mouse, rat MFRP

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFRP

Orthologs
for MFRP gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for MFRP gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for MFRP gene

TLL2²  CUBN²  CDCP2²  PCOLCE²  BMP1²  PCOLCE2²  NETO2²  NETO1²  

TLL1²  

1 SIMAP similar gene for MFRP using alignment to 2 protein entries:     MFRP_HUMAN (see all proteins):

CUBN

Find genes that share paralogs with MFRP           About GenesLikeMe

Genomic Variants
for MFRP gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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6 SNPs for MFRP    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0256944		Nanophthalmos 2 (NNO2)4	--	see VAR_025694	2	I T	mis4		0	--	--	--	--
VAR_0256954		--	--	see VAR_025695	2	G S	mis4		0	--	--	--	--
rs38147621,2,4		--	--	see VAR_025693	2		mis4		0	--	--	--	--
rs46399501,2,4		--	--	see VAR_025692	2		mis4		0	--	--	--	--
VAR_0256964		--	--	see VAR_025696	2	Q H	mis4		0	--	--	--	--
rs1394363961,2,4		--	--	see VAR_025691	2		mis4		0	--	--	--	--

HapMap Linkage Disequilibrium report for MFRP (119209652 - 119217383 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for MFRP:    About this table    

Variant ID	Type	Subtype	PubMed ID
nsv898417	CNV	Loss	21882294
nsv898418	CNV	Loss	21882294
nsv826103	CNV	Gain	20364138

Human Gene Mutation Database (HGMD): MFRP

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing MFRP

DNA2.0 Custom Variant and Variant Library Synthesis for MFRP

Disorders / Diseases
for MFRP gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia,

retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging

from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like

opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.

Note=The disease is caused by mutations affecting the gene represented in this entry

9 diseases for MFRP:    
About MalaCards

3 Novoseek inferred disease relationships for MFRP gene    About this table

Publications
for MFRP gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type frizzled-related protein. (PubMed id 11263980)^{1, 2, 3, 9} Katoh M. (Biochem. Biophys. Res. Commun. 2001)
2. Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (PubMed id 18334955)^{1, 4, 9} Metlapally R....Young T.L. (Mol. Vis. 2008)
3. Evaluation of MFRP as a candidate gene for high hyperopia. (PubMed id 19169412)^{1, 4, 9} Wang P....Zhang Q. (Mol. Vis. 2009)
4. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. (PubMed id 17167404)^{1, 2, 9} Ayala-Ramirez R.... Zenteno J.C. (Mol. Vis. 2006)
5. Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. (PubMed id 18648522)^{1, 4, 9} Aung T....Vithana E.N. (Mol. Vis. 2008)
6. Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations. (PubMed id 16352475)^{1, 2, 9} Pauer G.J.T.... Hagstrom S.A. (Ophthalmic Genet. 2005)
7. Bone morphogenetic protein-2 modulates Wnt and frizzled expression and enhances the canonical pathway of Wnt signaling in normal keratinocytes. (PubMed id 16442268)^{1, 2} Yang L.... Hashimoto K. (J. Dermatol. Sci. 2006)
8. Extreme hyperopia is the result of null mutations in MFRP, which encodes a frizzled-related protein. (PubMed id 15976030)^{1, 2} Sundin O.H.... Weinberg E.M. (Proc. Natl. Acad. Sci. U.S.A. 2005)
9. Sequencing arrays for screening multiple genes associated with early- onset human retinal degenerations on a high-throughput platform. (PubMed id 16123440)^{1, 2} Mandal M.N.A.... Ayyagari R. (Invest. Ophthalmol. Vis. Sci. 2005)
10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)

External Searches for MFRP gene

Genome Databases showing MFRP gene

Other Databases showing MFRP gene

Specialized Databases showing MFRP gene

Products
for MFRP gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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