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Aliases for CFHR2 Gene

Aliases for CFHR2 Gene

  • Complement Factor H Related 2 2 3
  • Complement Factor H-Related 2 2 3 5
  • 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
  • FHR2 3 4
  • Factor H-Related Gene 2 3

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 Dense Deposit Disease and Macular Degeneration, Age-Related, 1. An important paralog of this gene is ENSG00000276911.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFHR2 Gene

Genomics for CFHR2 Gene

Regulatory Elements for CFHR2 Gene

Enhancers for CFHR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFHR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CFHR2 Gene

Chromosome:
1
Start:
196,943,758 bp from pter
End:
196,959,226 bp from pter
Size:
15,469 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

Proteomics data for CFHR2 Gene at MOPED

Post-translational modifications for CFHR2 Gene

Other Protein References for CFHR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CFHR2 (Complement Factor H-related 2/CFHR2)
  • Abcam antibodies for CFHL2
  • Santa Cruz Biotechnology (SCBT) Antibodies for CFHR2

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

Suggested Antigen Peptide Sequences for CFHR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P36980

UniProtKB/Swiss-Prot:

FHR2_HUMAN :
  • Contains 4 Sushi (CCP/SCR) domains.
Domain:
  • Contains 4 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with CFHR2: view

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.
genes like me logo Genes that share phenotypes with CFHR2: view

Animal Model Products

miRNA for CFHR2 Gene

miRTarBase miRNAs that target CFHR2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CFHR2 Gene COMPARTMENTS Subcellular localization image for CFHR2 gene
Compartment Confidence
extracellular 5
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CFHR2 Gene

Pathways & Interactions for CFHR2 Gene

SuperPathways for CFHR2 Gene

No Data Available

Interacting Proteins for CFHR2 Gene

Selected Interacting proteins: P36980-FHR2_HUMAN for CFHR2 Gene via I2D

Symbol External ID(s) Details
ATG12

Gene Ontology (GO) - Biological Process for CFHR2 Gene

None

No data available for Pathways by source and 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

Unigene Clusters for CFHR2 Gene

Complement factor H-related 2:
Representative Sequences:

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

No ASD Table

Relevant External Links for CFHR2 Gene

GeneLoc Exon Structure for
CFHR2
ECgene alternative splicing isoforms for
CFHR2

Expression for CFHR2 Gene

mRNA expression in normal human tissues for CFHR2 Gene

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



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.
genes like me logo Genes that share expression patterns with CFHR2: view

Protein tissue co-expression partners for CFHR2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia CFHR2 35
  • 73.84 (n)
  • 62.15 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 9 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 21 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia CFHR2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 8 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 4 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii cfh 36
  • 8 (a)
ManyToMany
Species with no ortholog for CFHR2:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CFHR2 Gene

Paralogs for CFHR2 Gene

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

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

Variants for CFHR2 Gene

Sequence variations from dbSNP and Humsavar for CFHR2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs400091 -- 196,943,057(-) TGTTC(C/T)GATGG upstream-variant-2KB
rs431535 -- 196,943,084(-) TGAAC(A/C)AATTT upstream-variant-2KB
rs432366 -- 196,943,061(-) ATTTT(C/G)TTCCG upstream-variant-2KB
rs447019 -- 196,943,071(-) CTTCA(A/G)AATAA upstream-variant-2KB
rs1359593 -- 196,953,978(+) TTCAT(A/T)TACAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
nsv428290 CNV Gain+Loss 18775914
esv743 CNV CNV 17122850
nsv471614 CNV Gain+Loss 15918152
dgv166e1 CNV Complex 17122850
dgv168e1 CNV Complex 17122850
esv26552 CNV Gain+Loss 19812545
nsv8691 CNV Gain+Loss 18304495
dgv500n71 CNV Loss 21882294
dgv501n71 CNV Gain+Loss 21882294
nsv517662 CNV Gain+Loss 19592680
nsv3999 CNV Loss 18451855
dgv12e55 CNV Gain 17911159
essv8557 CNV CNV 17122850
dgv506n71 CNV Gain 21882294
dgv507n71 CNV Gain+Loss 21882294
dgv508n71 CNV Loss 21882294
esv5113 CNV Deletion 18987735
nsv469599 CNV Loss 16826518
dgv171e1 CNV Complex 17122850
dgv511n71 CNV Gain+Loss 21882294
dgv512n71 CNV Gain+Loss 21882294
nsv873060 CNV Loss 21882294
nsv470770 CNV Loss 18288195
dgv57n27 CNV Loss 19166990
dgv58n27 CNV Gain 19166990
essv21109 CNV CNV 17122850
nsv873062 CNV Gain 21882294
nsv826042 CNV Gain 20364138

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)

Relevant External Links for CFHR2 Gene

Human Gene Mutation Database (HGMD)
CFHR2

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

Disorders for CFHR2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFHR2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dense deposit disease
  • ddd
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
- elite association - COSMIC cancer census association via MalaCards
Search CFHR2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CFHR2

Genetic Association Database (GAD)
CFHR2
Human Genome Epidemiology (HuGE) Navigator
CFHR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFHR2
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 P.F. (Immunogenetics 1995) 2 3 4 23 67
  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 P.E. (J. Immunol. 1992) 2 3
  3. Factor H-related proteins determine complement-activating surfaces. (PMID: 25979655) JA^zsi M. … RodrA-guez de CA^rdoba S. (Trends Immunol. 2015) 3
  4. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. (PMID: 24333077) Chaudhary P. … Weitz I.C. (Blood Transfus 2014) 3
  5. Complement factor H-related hybrid protein deregulates complement in dense deposit disease. (PMID: 24334459) Chen Q. … Zipfel P.F. (J. Clin. Invest. 2014) 3

Products for CFHR2 Gene

Sources for CFHR2 Gene

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