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

Gene ID: 10878, updated on 2-Nov-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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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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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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