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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CFH

    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
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001166624.2NP_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:149204
      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:2682
      Sushi; Sushi repeat (SCR repeat)
    2. NM_021023.6NP_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:107329
      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)