Gene

CFHR5

complement factor H related 5

Cytogenetic location: 1q31.3
Coordinates: Chromosome 1: 196,977,556–197,009,678 (GRCh38)
Exons: 10 exons across 32.1 kb
Protein: 569 amino acids
Also known as: FHR5, FHR-5
Previous symbols: CFHL5
MANE Select transcript: ENST00000256785.5NM_030787.4
Locus type: Protein-coding

Very high
Confident
Low
Very low

This page as data

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Curated report relevant to this gene

Hemolytic Uremic Syndrome, Interstitial Nephritis
- Complement 3 Glomerulopathy
  A kidney disease, including C3 glomerulonephritis and dense deposit disease, caused by uncontrolled activation of the complement system, often involving CFH, CFHR5, C3 or CFI.
  - 1 GenCC submitter rates it definitive or strong
  Actionability
  Knowing guides kidney monitoring and consideration of complement-targeted treatment.

How CFHR5 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.8 kb of the gene's 32.1 kb; 1,710 of those bases code for the protein.

Sequencing CFHR5

positions in CFHR5 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 32.1 kb of CFHR5, introns included, not only the 2.8 kb of exons.

ClinVar pathogenic variants (2)

The CFHR5 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

Likely pathogenic 2

Variant	Conditions	ClinVar classification	Review status
NM_030787.4(CFHR5):c.1303C>T (p.Arg435Ter) (opens in a new tab)	C3 glomerulonephritis	Likely pathogenic	1 star out of 4 criteria provided, single submitter
NM_030787.4(CFHR5):c.1511_1513delinsAA (p.Leu504fs) (opens in a new tab)	C3 glomerulonephritis	Likely pathogenic	1 star out of 4 criteria provided, single submitter

Traits linked to CFHR5

The Human Phenotype Ontology lists these as features of the rare conditions CFHR5 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the genitourinary system

Laboratory abnormality

Small amount of blood in urine

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). CFHR5 gene: complement factor H related 5. Retrieved 18 October 2026, from https://dantelabs.com/genes/cfhr5

Vancouver

Dante Labs. CFHR5 gene: complement factor H related 5 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/cfhr5

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