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    CFHR2 complement factor H related 2 [ Homo sapiens (human) ]

    Gene ID: 3080, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CFHR2provided by HGNC
    Official Full Name
    complement factor H related 2provided by HGNC
    Primary source
    HGNC:HGNC:4890
    See related
    Ensembl:ENSG00000080910 MIM:600889; AllianceGenome:HGNC:4890
    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
    FHR2; HFL3; CFHL2
    Summary
    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]
    Expression
    Restricted expression toward liver (RPKM 292.8) See more
    Orthologs
    all
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    Genomic context

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    See CFHR2 in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196943738..196959622)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196205558..196221447)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196912868..196928752)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H-related protein 3-like Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 Neighboring gene Sharpr-MPRA regulatory region 8052 Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196902813-196903312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:196910913-196911413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2275 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196960781-196961380 Neighboring gene complement factor H related 5 Neighboring gene MPRA-validated peak639 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:196986547-196987746 Neighboring gene coagulation factor XIII B chain

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
      Title: Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
    2. Studies indicate an association between CFHR2-rs2986127 and acute anterior uveitis (AAU) diagnosis.
      Title: CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients.
    3. Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR2]
      Title: Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
    4. Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
      Title: Factor H-related proteins determine complement-activating surfaces.
    5. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
      Title: Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
    6. Thus CFHR2 likely acts in concert with factor H, as CFHR2 inhibits convertases while simultaneously allowing factor H assisted degradation by factor I.
      Title: Human factor H-related protein 2 (CFHR2) regulates complement activation.
    7. A hybrid CFHR2-CFHR5 plasma protein, arising from a chromosomal deletion mutation stabilizes the C3 convertase and reduces factor H-mediated convertase decay.
      Title: Complement factor H-related hybrid protein deregulates complement in dense deposit disease.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    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

    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 identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    involved_in cytolysis by host of symbiont cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement factor H-related protein 2
    Names
    DDESK59
    FHR-2
    H factor (complement)-like 3
    factor H-related gene 2
    h factor-like 3
    h factor-like protein 2

    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_042816.1 RefSeqGene

      Range
      4971..20855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1216

    mRNA and Protein(s)

    1. NM_001312672.1 → NP_001299601.1  complement factor H-related protein 2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive exons, but maintains the reading frame compared to variant 1. The resulting shorter isoform (2) is missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      BC022283, BG563114, X64877
      Consensus CDS
      CCDS91136.1
      UniProtKB/TrEMBL
      A0A3B3IS28
      Related
      ENSP00000497089.1, ENST00000473386.1
      Conserved Domains (1) summary
      cd00033
      Location:25 → 79
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    2. NM_001410924.1 → NP_001397853.1  complement factor H-related protein 2 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AL139418
      Consensus CDS
      CCDS91135.1
      UniProtKB/TrEMBL
      A0A3B3IRW0
      Related
      ENSP00000496889.1, ENST00000496448.6

    3. NM_005666.4 → NP_005657.1  complement factor H-related protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL139418, BC022283
      Consensus CDS
      CCDS30959.1
      UniProtKB/Swiss-Prot
      P36980, Q14310, Q5T9T1
      UniProtKB/TrEMBL
      V9GYE7
      Related
      ENSP00000356385.4, ENST00000367415.8
      Conserved Domains (1) summary
      cl27761
      Location:72 → 265
      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
      196943738..196959622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509459.3 → XP_011507761.1  complement factor H-related protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TQS1, V9GYE7
      Related
      ENSP00000514689.1, ENST00000489703.2
      Conserved Domains (1) summary
      cd00033
      Location:129 → 183
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    2. XM_011509458.3 → XP_011507760.1  complement factor H-related protein 2 isoform X1

      UniProtKB/TrEMBL
      V9GYE7
      Conserved Domains (1) summary
      cd00033
      Location:145 → 199
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    3. XM_017001109.2 → XP_016856598.1  complement factor H-related protein 2 isoform X3

      UniProtKB/TrEMBL
      A0A3B3ISW6, V9GYE7
      Related
      ENSP00000497428.2, ENST00000649960.2

    4. XM_011509460.3 → XP_011507762.1  complement factor H-related protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A3B3IS00
      Conserved Domains (1) summary
      cd00033
      Location:80 → 134
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791754.1 Reference GRCh38.p14 PATCHES

      Range
      708861..724748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332748.1 → XP_054188723.1  complement factor H-related protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TQS1

    2. XM_054332747.1 → XP_054188722.1  complement factor H-related protein 2 isoform X1

    3. XM_054332749.1 → XP_054188724.1  complement factor H-related protein 2 isoform X3

      UniProtKB/TrEMBL
      A0A3B3ISW6

    4. XM_054332750.1 → XP_054188725.1  complement factor H-related protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      196205558..196221447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336211.1 → XP_054192186.1  complement factor H-related protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TQS1

    2. XM_054336210.1 → XP_054192185.1  complement factor H-related protein 2 isoform X1

    3. XM_054336212.1 → XP_054192187.1  complement factor H-related protein 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36980.1 GenPept UniProtKB/Swiss-Prot:P36980

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