This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this ge... See more...

Aliases for CFHR2 Gene

Aliases for CFHR2 Gene

  • Complement Factor H Related 2 2 3 5
  • FHR2 2 3 4
  • Complement Factor H-Related Protein 2 3 4
  • H Factor (Complement)-Like 3 2 3
  • H Factor-Like Protein 2 3 4
  • H Factor-Like 3 3 4
  • DDESK59 3 4
  • CFHL2 3 4
  • FHR-2 3 4
  • HFL3 3 4
  • Complement Factor H-Related 2 2
  • Factor H-Related Gene 2 3
  • CFHR2 5

External Ids for CFHR2 Gene

Previous HGNC Symbols for CFHR2 Gene

  • HFL3
  • CFHL2

Previous GeneCards Identifiers for CFHR2 Gene

  • GC01P195179
  • GC01P196789
  • GC01P168070

Summaries for CFHR2 Gene

Entrez Gene Summary for CFHR2 Gene

  • This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for CFHR2 Gene

CFHR2 (Complement Factor H Related 2) is a Protein Coding gene. Diseases associated with CFHR2 include Degeneration Of Macula And Posterior Pole and Skeletal Tuberculosis. Among its related pathways are Complement and coagulation cascades. An important paralog of this gene is CFHR1.

UniProtKB/Swiss-Prot Summary for CFHR2 Gene

  • Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.

Gene Wiki entry for CFHR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFHR2 Gene

Genomics for CFHR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFHR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J196941 Enhancer 0.3 Ensembl 250.7 -1.8 -1838 0.2 CEBPA CEBPB CFHR2 HSALNG0009424 CFHR3 lnc-F13B-2 CFHR4
GH01J196943 Promoter 0.3 EPDnew 250.7 +0.0 42 0.1 CFHR2 HSALNG0009424 HSALNG0009426 CFHR5
GH01J196888 Promoter 0.8 EPDnew 0.2 -55.7 -55677 0.1 CEBPA ATF3 YY1 FOXA2 RXRA ZBTB33 JUND HNF4A RAD21 NR2F1 CFHR4 HSALNG0009423 lnc-F13B-2 CFHR2
GH01J196904 Enhancer 0.3 Ensembl 0.3 -38.5 -38537 1.2 ZNF507 HSALNG0009423 CFHR4 lnc-F13B-2 LOC105371675 CFHR2
GH01J196912 Enhancer 0.2 Ensembl 0.3 -30.9 -30937 1.6 CFHR3 CFHR1 HSALNG0009423 CFHR4 LOC105371675 lnc-F13B-2 CFHR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFHR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFHR2

Top Transcription factor binding sites by QIAGEN in the CFHR2 gene promoter:
  • aMEF-2
  • MEF-2A
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Zic1

Genomic Locations for CFHR2 Gene

Latest Assembly
chr1:196,943,738-196,959,622
(GRCh38/hg38)
Size:
15,885 bases
Orientation:
Plus strand

Previous Assembly
chr1:196,912,868-196,928,752
(GRCh37/hg19 by Entrez Gene)
Size:
15,885 bases
Orientation:
Plus strand

chr1:196,788,898-196,928,356
(GRCh37/hg19 by Ensembl)
Size:
139,459 bases
Orientation:
Plus strand

Genomic View for CFHR2 Gene

Genes around CFHR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFHR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFHR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFHR2 Gene

Proteins for CFHR2 Gene

  • Protein details for CFHR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36980-FHR2_HUMAN
    Recommended name:
    Complement factor H-related protein 2
    Protein Accession:
    P36980
    Secondary Accessions:
    • Q14310
    • Q5T9T1

    Protein attributes for CFHR2 Gene

    Size:
    270 amino acids
    Molecular mass:
    30651 Da
    Quaternary structure:
    • Head-to-tail homodimer and heterodimer with CFHR1 or CFHR5.

    Three dimensional structures from OCA and Proteopedia for CFHR2 Gene

    Alternative splice isoforms for CFHR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFHR2 Gene

Post-translational modifications for CFHR2 Gene

No data available for DME Specific Peptides for CFHR2 Gene

Domains & Families for CFHR2 Gene

Gene Families for CFHR2 Gene

Protein Domains for CFHR2 Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for CFHR2 Gene

GenScript: Design optimal peptide antigens:
  • H factor-like protein 2 (FHR2_HUMAN)
genes like me logo Genes that share domains with CFHR2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFHR2 Gene

Function for CFHR2 Gene

Molecular function for CFHR2 Gene

UniProtKB/Swiss-Prot Function:
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.

Phenotypes From GWAS Catalog for CFHR2 Gene

Gene Ontology (GO) - Molecular Function for CFHR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23487775
GO:0042802 identical protein binding IPI 23487775
genes like me logo Genes that share ontologies with CFHR2: view
genes like me logo Genes that share phenotypes with CFHR2: view

miRNA for CFHR2 Gene

miRTarBase miRNAs that target CFHR2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFHR2 Gene

Localization for CFHR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFHR2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CFHR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0032991 protein-containing complex IDA 23487775
genes like me logo Genes that share ontologies with CFHR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFHR2 Gene

Pathways & Interactions for CFHR2 Gene

PathCards logo

SuperPathways for CFHR2 Gene

genes like me logo Genes that share pathways with CFHR2: view

Pathways by source for CFHR2 Gene

1 KEGG pathway for CFHR2 Gene

Gene Ontology (GO) - Biological Process for CFHR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030449 regulation of complement activation TAS --
GO:0032091 negative regulation of protein binding IMP 23487775
GO:0051838 cytolysis by host of symbiont cells IMP 23487775
genes like me logo Genes that share ontologies with CFHR2: view

No data available for SIGNOR curated interactions for CFHR2 Gene

Drugs & Compounds for CFHR2 Gene

(1) Drugs for CFHR2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CFHR2: view

Transcripts for CFHR2 Gene

mRNA/cDNA for CFHR2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR2

Alternative Splicing Database (ASD) splice patterns (SP) for CFHR2 Gene

No ASD Table

Relevant External Links for CFHR2 Gene

GeneLoc Exon Structure for
CFHR2

Expression for CFHR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFHR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for CFHR2 Gene

This gene is overexpressed in Liver (x52.8).

Protein differential expression in normal tissues from HIPED for CFHR2 Gene

This gene is overexpressed in Serum (28.5), Plasma (9.8), and Synovial fluid (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFHR2 Gene



Protein tissue co-expression partners for CFHR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFHR2

SOURCE GeneReport for Unigene cluster for CFHR2 Gene:

Hs.632450

mRNA Expression by UniProt/SwissProt for CFHR2 Gene:

P36980-FHR2_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CFHR2 Gene

  • Liver(4.8)
genes like me logo Genes that share expression patterns with CFHR2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CFHR2 Gene

Orthologs for CFHR2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFHR2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CFHR2 30
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CFHR2 29
  • 73.84 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 21 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 9 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 8 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 4 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii cfh 30
  • 8 (a)
ManyToMany
Species where no ortholog for CFHR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFHR2 Gene

ENSEMBL:
Gene Tree for CFHR2 (if available)
TreeFam:
Gene Tree for CFHR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFHR2: view image
Alliance of Genome Resources:
Additional Orthologs for CFHR2

Paralogs for CFHR2 Gene

(6) SIMAP similar genes for CFHR2 Gene using alignment to 2 proteins:

  • FHR2_HUMAN
  • V9GYE7_HUMAN
genes like me logo Genes that share paralogs with CFHR2: view

Variants for CFHR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFHR2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs111370744 Uncertain Significance: Severe Myopia 196,951,029(+) G/A
NM_005666.4(CFHR2):c.430+1G>A
SPLICE_DONOR_VARIANT,INTRON
rs115541863 Benign: not provided 196,951,035(+) G/A
NM_005666.4(CFHR2):c.430+7G>A
INTRON
rs145405649 Benign: not provided 196,950,923(+) A/G
NM_005666.4(CFHR2):c.325A>G (p.Thr109Ala)
MISSENSE_VARIANT,INTRON
rs375905519 Benign: not provided 196,950,930(+) AAATT/A
NM_005666.4(CFHR2):c.334_337del (p.Ile112fs)
FRAMESHIFT_VARIANT,INTRON
rs41257904 Benign: not provided 196,958,055(+) G/T
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFHR2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CFHR2 Gene

Variant ID Type Subtype PubMed ID
dgv12e55 CNV gain 17911159
dgv28n111 CNV deletion 26073780
dgv511n100 CNV gain 25217958
dgv539n100 CNV gain 25217958
dgv554n100 CNV loss 25217958
dgv555n100 CNV gain 25217958
dgv57n27 CNV loss 19166990
dgv58n27 CNV gain 19166990
dgv6e203 CNV gain+loss 21179565
dgv748n54 CNV gain 21841781
dgv754n54 CNV gain+loss 21841781
esv26552 CNV gain+loss 19812545
esv2758990 CNV gain+loss 17122850
esv3575416 CNV gain 25503493
esv3578358 CNV loss 25503493
esv3891037 CNV gain 25118596
esv5113 CNV loss 18987735
nsv1006432 CNV loss 25217958
nsv3999 CNV deletion 18451855
nsv428290 CNV gain+loss 18775914
nsv469599 CNV loss 16826518
nsv470770 CNV loss 18288195
nsv471614 CNV gain+loss 15918152
nsv517662 CNV gain+loss 19592680
nsv528460 CNV gain 19592680
nsv548851 CNV gain 21841781
nsv548852 CNV loss 21841781
nsv826042 CNV gain 20364138
nsv8691 CNV gain+loss 18304495
nsv946563 CNV duplication 23825009

Variation tolerance for CFHR2 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.99; 60.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFHR2 Gene

Human Gene Mutation Database (HGMD)
CFHR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFHR2
Leiden Open Variation Database (LOVD)
CFHR2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFHR2 Gene

Disorders for CFHR2 Gene

MalaCards: The human disease database

(89) MalaCards diseases for CFHR2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
degeneration of macula and posterior pole
  • degeneration of macula and posterior pole of retina
skeletal tuberculosis
  • osteoarticular tuberculosis
nonbacterial thrombotic endocarditis
  • marantic endocarditis
tick-borne relapsing fever
  • relapsing fever, tick-borne
acrodermatitis chronica atrophicans
  • herxheimer disease
- elite association - COSMIC cancer census association via MalaCards
Search CFHR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CFHR2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFHR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFHR2 Gene

Publications for CFHR2 Gene

  1. The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene. (PMID: 7672821) Skerka C … Zipfel PF (Immunogenetics 1995) 2 3 4 22
  2. Two additional human serum proteins structurally related to complement factor H. Evidence for a family of factor H-related genes. (PMID: 1533657) Skerka C … Zipfel PF (Journal of immunology (Baltimore, Md. : 1950) 1992) 2 3 4
  3. Dimerization of complement factor H-related proteins modulates complement activation in vivo. (PMID: 23487775) Goicoechea de Jorge E … Lea SM (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
  4. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. (PMID: 20059470) Sullivan M … Neumann HP (Annals of human genetics 2010) 3 40
  5. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. (PMID: 18541031) Zhang H … Deangelis MM (BMC medical genetics 2008) 3 40

Products for CFHR2 Gene

Sources for CFHR2 Gene