CFHR3 cDNA ORF clone, Homo sapiens(human)
| Gene Symbol | CFHR3 |
| Entrez Gene ID | 10878 |
| Full Name | complement factor H related 3 |
| Synonyms | CFHL3,DOWN16,FHR-3,FHR3,HLF4 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. |
| Disorder MIM: | |
| Disorder Html: | {Macular degeneration, age-related, reduced risk of}, 603075 (3); {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_021023.5 | NP_066303.2 | complement factor H-related protein 3 isoform 1 precursor |
| NM_021023.6 | NP_066303.2 | complement factor H-related protein 3 isoform 1 precursor |
| NM_001166624.1 | NP_001160096.1 | complement factor H-related protein 3 isoform 2 precursor |
Related articles in PubMed
Deletion Variants of
Jullien P, Laurent B, Claisse G, Masson I, Dinic M, Thibaudin D, Berthoux F, Alamartine E, Mariat C, Maillard N
Journal of the American Society of Nephrology : JASN(2017 Nov)
Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy.
Rogers LM, Mott SL, Smith BJ, Link BK, Sahin D, Weiner GJ
Clinical cancer research : an official journal of the American Association for Cancer Research23(4)954-961(2017 Feb)
FHR3 Blocks C3d-Mediated Coactivation of Human B Cells.
Buhlmann D, Eberhardt HU, Medyukhina A, Prodinger WM, Figge MT, Zipfel PF, Skerka C
Journal of immunology (Baltimore, Md. : 1950)197(2)620-9(2016 07)
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
Hughes AE, Bridgett S, Meng W, Li M, Curcio CA, Stambolian D, Bradley DT
Investigative ophthalmology & visual science57(6)2763-9(2016 05)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
To our knowledge, this is the first evaluation of the involvement of the CFHR3/CFHR1 deletion and age-related macular degeneration in CFH Y402H polymorphism Brazilian patients.
Title: Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil.
Exploratory analyses of clinical and histopathologic parameters using the Oxford classification criteria revealed a suggestive association of CFHR3,1Delta with reduced tubulointerstitial injury. These data indicate that dysregulated activity of the alternative complement pathway contributes to IgAN pathogenesis in both Asians and Europeans and implicate CFHR3,1Delta as the functional allele at this locus
Title: Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.
These data provide evidence that FHR3, which is absent in patients with the autoimmune form of hemolytic uremic syndrome, is involved in B cell regulation
Title: FHR3 Blocks C3d-Mediated Coactivation of Human B Cells.
We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb deletion that arose through microhomology-mediated end joining rather than nonallelic homologous recombination. We confirmed a transcript from this hybrid gene and showed a secreted protein product that lacks the recognition domain of factor H and exhibits impaired cell surface complement regulation
Title: A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.
Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins.[CFHR3]
Title: Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
The following CFHR3 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CFHR3 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu18992 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_021023.5 , NM_021023.6 | |
| Accession Version | NM_021023.5 | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 993bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-06-17 | |
| Organism | Homo sapiens(human) | |
| Product | complement factor H-related protein 3 isoform 1 precursor | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG618529.1 and BC058009.1. This sequence is a reference standard in the RefSeqGene project. On Oct 30, 2009 this sequence version replaced NM_021023.4. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC058009.1, X68679.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGTTGTTAC TAATCAATGT CATTCTGACC TTGTGGGTTT CCTGTGCTAA TGGACAAGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_066303.2 |
| CDS | 88..1080 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_021023.5 |
ORF Insert Sequence:
1 | ATGTTGTTAC TAATCAATGT CATTCTGACC TTGTGGGTTT CCTGTGCTAA TGGACAAGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu18992 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_021023.5 , NM_021023.6 | |
| Accession Version | NM_021023.6 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 993bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2020-01-04 | |
| Organism | Homo sapiens(human) | |
| Product | complement factor H-related protein 3 isoform 1 precursor | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG618529.1, BC058009.1 and AL049741.8. On Dec 4, 2019 this sequence version replaced NM_021023.5. Transcript Variant: This variant (1) encodes the longer isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC058009.1, X68679.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGTTGTTAC TAATCAATGT CATTCTGACC TTGTGGGTTT CCTGTGCTAA TGGACAAGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_066303.2 |
| CDS | 48..1040 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_021023.6 |
ORF Insert Sequence:
1 | ATGTTGTTAC TAATCAATGT CATTCTGACC TTGTGGGTTT CCTGTGCTAA TGGACAAGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu16556 | |
| Clone ID Related Accession (Same CDS sequence) | NM_001166624.1 | |
| Accession Version | NM_001166624.1 Latest version! | Documents for ORF clone product in default vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 810bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ™ Seamless cloning technology | |
| Insert Structure | linear | |
| Update Date | 2019-12-27 | |
| Organism | Homo sapiens(human) | |
| Product | complement factor H-related protein 3 isoform 2 precursor | |
| Comment | Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG618529.1, AK298459.1 and BC058009.1. Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK298459.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA2145122 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGTTGTTAC TAATCAATGT CATTCTGACC TTGTGGGTTT CCTGTGCTAA TGGACAAGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001160096.1 |
| CDS | 88..897 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001166624.1 |
ORF Insert Sequence:
1 | ATGTTGTTAC TAATCAATGT CATTCTGACC TTGTGGGTTT CCTGTGCTAA TGGACAAGTG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Deletion Variants of |
|
Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy. |
|
FHR3 Blocks C3d-Mediated Coactivation of Human B Cells. |
|
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk. |