Human Gene CFHR3 (ENST00000471440.6) from GENCODE V44
  Description: complement factor H related 3 (from HGNC CFHR3)
RefSeq Summary (NM_021023): 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].
Gencode Transcript: ENST00000471440.6
Gencode Gene: ENSG00000116785.15
Transcript (Including UTRs)
   Position: hg38 chr1:196,774,813-196,790,022 Size: 15,210 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr1:196,774,887-196,788,830 Size: 13,944 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:196,774,813-196,790,022)mRNA (may differ from genome)Protein (232 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CFHR3
Diseases sorted by gene-association score: hemolytic uremic syndrome, atypical 1* (636), macular degeneration, age-related, 1* (331), cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome* (100), hemolytic-uremic syndrome (12), c3 glomerulopathy (9), degeneration of macula and posterior pole (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 80.78 RPKM in Liver
Total median expression: 83.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.1074-0.082 Picture PostScript Text
3' UTR -250.501192-0.210 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)

ModBase Predicted Comparative 3D Structure on Q6NSD3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  BC029390 - Homo sapiens cDNA clone IMAGE:4767223, **** WARNING: chimeric clone ****.
BC070259 - Homo sapiens complement factor H-related 3, mRNA (cDNA clone IMAGE:4716670), complete cds.
BC020680 - Homo sapiens, Similar to complement factor H related 3, clone IMAGE:4734130, mRNA.
AK298459 - Homo sapiens cDNA FLJ60136 complete cds, moderately similar to Complement factor H-related protein 3 precursor.
BC020687 - Homo sapiens complement factor H-related 3, mRNA (cDNA clone IMAGE:4734101), complete cds.
BC058009 - Homo sapiens complement factor H-related 3, mRNA (cDNA clone MGC:61905 IMAGE:4716505), complete cds.
X68679 - H. sapiens mRNA for DOWN 16.
CU687072 - Synthetic construct Homo sapiens gateway clone IMAGE:100023143 5' read CFHR3 mRNA.
KJ902169 - Synthetic construct Homo sapiens clone ccsbBroadEn_11563 CFHR3 gene, encodes complete protein.
CU691286 - Synthetic construct Homo sapiens gateway clone IMAGE:100023032 5' read CFHR3 mRNA.
HQ447549 - Synthetic construct Homo sapiens clone IMAGE:100070888; CCSB014786_01 complement factor H-related 3 (CFHR3) gene, encodes complete protein.
KJ893151 - Synthetic construct Homo sapiens clone ccsbBroadEn_02545 CFHR3 gene, encodes complete protein.
CU676644 - Synthetic construct Homo sapiens gateway clone IMAGE:100022057 5' read CFHR3 mRNA.
KJ902168 - Synthetic construct Homo sapiens clone ccsbBroadEn_11562 CFHR3 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: BC070259, ENST00000471440.1, ENST00000471440.2, ENST00000471440.3, ENST00000471440.4, ENST00000471440.5, hCG_1724981, Q6NSD3, Q6NSD3_HUMAN, uc001gtk.1, uc001gtk.2, uc001gtk.3, uc001gtk.4
UCSC ID: ENST00000471440.6
RefSeq Accession: NM_021023
Protein: Q6NSD3

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CFHR3:
husa (Genetic Atypical Hemolytic-Uremic Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.