CFHR5 complement factor H related 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFHR5provided by HGNC
Official Full Name: complement factor H related 5provided by HGNC
Primary source: HGNC:HGNC:24668
See related: Ensembl:ENSG00000134389 MIM:608593; AllianceGenome:HGNC:24668
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: FHR5; CFHL5; FHR-5; CFHR5D
Summary: This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]
Expression: Restricted expression toward liver (RPKM 44.1) See more
Orthologs: all
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Genomic context

Location:: 1q31.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (196975034..197009678)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (196236842..196271501)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (196946686..196978808)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
Title: Causal association between complement system FHR-5, CTRP9, and breast carcinoma in situ: a Mendelian randomization study.
The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.
Title: The complement factor H-related protein-5 (CFHR5) exacerbates pathological bone formation in ankylosing spondylitis.
Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
Title: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.
Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
Title: Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.
Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.
Title: Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.
FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Title: FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy.
Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.
Title: Gain-of-function factor H-related 5 protein impairs glomerular complement regulation resulting in kidney damage.
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.
The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.
Title: The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.
Higher circulating FHR-5 levels in IgA nephropathy patients were associated with a lower estimated glomerular filtration rate, hypertension, and severe Oxford-T and Oxford-C scores. High FHR-5 levels were independently and significantly associated with a risk of developing either a 30% decline in the estimated glomerular filtration rate or end-stage renal disease.
Title: Circulating complement factor H-related protein 5 levels contribute to development and progression of IgA nephropathy.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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
CFHR5 deficiency MedGen: C3553720 GeneReviews: Not available	Compare labs
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II MedGen: CN120381 GeneReviews: C3 Glomerulopathy	Compare labs

EBI GWAS Catalog

Description
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies susceptibility loci for IgA nephropathy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Ischemic stroke is associated with the ABO locus: the EuroCLOT study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of complement factor H-related 5 (CFHR5) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, alternative pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cytolysis by host of symbiont cells	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: complement factor H-related protein 5

Names: factor H-related protein 5

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

NG_016365.1 RefSeqGene

Range

5001..37138

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_227

mRNA and Protein(s)

NM_030787.4 → NP_110414.1 complement factor H-related protein 5 precursor

See identical proteins and their annotated locations for NP_110414.1

Status: REVIEWED

Source sequence(s)

AF295327, AL353809, BC111773, BG568555, DA638244

Consensus CDS

CCDS1387.1

UniProtKB/Swiss-Prot

Q2NKK2, Q9BXR6

UniProtKB/TrEMBL

B2RA39

Related

ENSP00000256785.4, ENST00000256785.5

Conserved Domains (1) summary

cl27761
Location:107 → 323

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

196975034..197009678

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510020.3 → XP_011508322.1 complement factor H-related protein 5 isoform X1

UniProtKB/TrEMBL

B2RA39

Related

ENSP00000514393.1, ENST00000699466.1

Conserved Domains (3) summary

cd00033
Location:452 → 506

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

smart00032
Location:272 → 325

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

pfam00084
Location:392 → 445

Sushi; Sushi repeat (SCR repeat)