Human Gene CFHR2 (ENST00000367415.8_9) from GENCODE V47lift37
  Description: complement factor H related 2, transcript variant 1 (from RefSeq NM_005666.4)
Gencode Transcript: ENST00000367415.8_9
Gencode Gene: ENSG00000080910.14_16
Transcript (Including UTRs)
   Position: hg19 chr1:196,912,868-196,928,752 Size: 15,885 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr1:196,913,011-196,928,210 Size: 15,200 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:196,912,868-196,928,752)mRNA (may differ from genome)Protein (270 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FHR2_HUMAN
DESCRIPTION: RecName: Full=Complement factor H-related protein 2; Short=FHR-2; AltName: Full=DDESK59; AltName: Full=H factor-like 3; AltName: Full=H factor-like protein 2; Flags: Precursor;
FUNCTION: Might be involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
PTM: N-glycosylated.
SIMILARITY: Contains 4 Sushi (CCP/SCR) domains.

-  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: CFHR2
Diseases sorted by gene-association score: dense deposit disease (28), hemolytic-uremic syndrome (6), macular degeneration, age-related, 1 (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 217.15 RPKM in Liver
Total median expression: 217.20 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 -18.40143-0.129 Picture PostScript Text
3' UTR -110.20542-0.203 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)

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
57535 - Complement control module/SCR domain

ModBase Predicted Comparative 3D Structure on P36980
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0030449 regulation of complement activation
GO:0032091 negative regulation of protein binding
GO:0045919 positive regulation of cytolysis

Cellular Component:
GO:0005576 extracellular region
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  BC022283 - Homo sapiens complement factor H-related 2, mRNA (cDNA clone MGC:22434 IMAGE:4734331), complete cds.
JD019441 - Sequence 465 from Patent EP1572962.
X64877 - H.sapiens mRNA for serum protein.
JD183460 - Sequence 164484 from Patent EP1572962.
JD553943 - Sequence 534967 from Patent EP1572962.
JD245857 - Sequence 226881 from Patent EP1572962.
AX772812 - Sequence 9 from Patent WO03046180.
JD028542 - Sequence 9566 from Patent EP1572962.
CU692532 - Synthetic construct Homo sapiens gateway clone IMAGE:100022211 5' read CFHR2 mRNA.
KJ891341 - Synthetic construct Homo sapiens clone ccsbBroadEn_00735 CFHR2 gene, encodes complete protein.
DQ894582 - Synthetic construct Homo sapiens clone IMAGE:100009042; FLH176621.01L; RZPDo839F06121D complement factor H-related 2 (CFHR2) gene, encodes complete protein.
DQ891405 - Synthetic construct clone IMAGE:100004035; FLH176625.01X; RZPDo839F06122D complement factor H-related 2 (CFHR2) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P36980 (Reactome details) participates in the following event(s):

R-HSA-8851436 CFHR dimers bind C3b
R-HSA-977606 Regulation of Complement cascade
R-HSA-166658 Complement cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: CFHL2, ENST00000367415.1, ENST00000367415.2, ENST00000367415.3, ENST00000367415.4, ENST00000367415.5, ENST00000367415.6, ENST00000367415.7, FHR2, FHR2_HUMAN, HFL3, NM_005666, P36980, Q14310, Q5T9T1, uc318fxa.1, uc318fxa.2
UCSC ID: ENST00000367415.8_9
RefSeq Accession: NM_005666.4
Protein: P36980 (aka FHR2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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