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    CFHR3 complement factor H related 3 [ Homo sapiens (human) ]

    Gene ID: 10878, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFHR3provided by HGNC
    Official Full Name
    complement factor H related 3provided by HGNC
    Primary source
    HGNC:HGNC:16980
    See related
    Ensembl:ENSG00000116785 MIM:605336; AllianceGenome:HGNC:16980
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FHR3; HLF4; CFHL3; FHR-3; DOWN16
    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]
    Expression
    Restricted expression toward liver (RPKM 41.2) See more
    Orthologs
    all
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    Genomic context

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    See CFHR3 in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196774840..196795407)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196743970..196764537)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium sodium-activated channel subfamily T member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:196577905-196578421 Neighboring gene microRNA 4735 Neighboring gene MPRA-validated peak637 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2274 Neighboring gene complement factor H Neighboring gene MPRA-validated peak638 silencer Neighboring gene complement factor H-related protein 3-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 Neighboring gene complement factor H related 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication. Tasaki Y, et al. Front Immunol, 2024. PMID 38524137, Free PMC Article
    2. FHR3 Blocks C3d-Mediated Coactivation of Human B Cells. Buhlmann D, et al. J Immunol, 2016 Jul 15. PMID 27279373
    3. A novel short consensus repeat-containing molecule is related to human complement factor H. Skerka C, et al. J Biol Chem, 1993 Feb 5. PMID 8428964
    4. A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Francis NJ, et al. Blood, 2012 Jan 12. PMID 22058112
    5. High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B. Pouw RB, et al. Front Immunol, 2018. PMID 29740447, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.
      Title: Case report: A family of atypical hemolytic uremic syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication.
    2. The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
      Title: The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
    3. CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
      Title: CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome.
    4. Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
      Title: Anti-factor H antibody and its role in atypical hemolytic uremic syndrome.
    5. Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.
      Title: Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.
    6. The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma.
      Title: The miR-590-3p/CFHR3/STAT3 signaling pathway promotes cell proliferation and metastasis in hepatocellular carcinoma.
    7. High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
      Title: High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.
    8. Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells.
      Title: Complement Factor H-Related 3 Enhanced Inflammation and Complement Activation in Human RPE Cells.
    9. CFHR3 is a potential novel biomarker for hepatocellular carcinoma.
      Title: CFHR3 is a potential novel biomarker for hepatocellular carcinoma.
    10. Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection.
      Title: Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Age related macular degeneration 1
    MedGen: C1864205 OMIM: 603075 GeneReviews: Not available
    		not available
    Hemolytic uremic syndrome, atypical, susceptibility to, 1
    MedGen: C2749604 OMIM: 235400 GeneReviews: Genetic Atypical Hemolytic-Uremic Syndrome
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CFH

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    complement factor H-related protein 3
    Names
    H factor-like 4
    H factor-like protein 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015993.1 RefSeqGene

      Range
      5001..24274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_175

    mRNA and Protein(s)

    1. NM_001166624.2 → NP_001160096.1  complement factor H-related protein 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001160096.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AK298459, AL049741, BC058009, BG618529
      Consensus CDS
      CCDS53453.1
      UniProtKB/Swiss-Prot
      Q02985
      Related
      ENSP00000375845.3, ENST00000391985.7
      Conserved Domains (2) summary
      cd00033
      Location:149 → 204
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam00084
      Location:26 → 82
      Sushi; Sushi repeat (SCR repeat)

    2. NM_021023.6 → NP_066303.2  complement factor H-related protein 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_066303.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL049741, BC058009, BG618529
      Consensus CDS
      CCDS30958.1
      UniProtKB/Swiss-Prot
      B4DPR0, Q02985, Q9UJ16
      Related
      ENSP00000356395.5, ENST00000367425.9
      Conserved Domains (1) summary
      cl27761
      Location:107 → 329
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      196774840..196795407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02985.2 GenPept UniProtKB/Swiss-Prot:Q02985

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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