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

Gene ID: 3080, updated on 28-Oct-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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Related articles in PubMed

  1. CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients. Huang XF, et al. J Gene Med, 2016 Aug. PMID 27306586
  2. The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene. Skerka C, et al. Immunogenetics, 1995. PMID 7672821
  3. Two additional human serum proteins structurally related to complement factor H. Evidence for a family of factor H-related genes. Skerka C, et al. J Immunol, 1992 May 15. PMID 1533657
  4. Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration. Lorés-Motta L, et al. Am J Hum Genet, 2021 Aug 5. PMID 34260947, Free PMC Article
  5. Molecular cloning of a human serum protein structurally related to complement factor H. Skerka C, et al. J Biol Chem, 1991 Jun 25. PMID 1711047

See all (26) citations in PubMed

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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