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Gene

C6

complement C6

Summary

Cytogenetic location
5p13.1
Coordinates
Chromosome 5: 41,142,116–41,213,532 (GRCh38)
Exons
18 exons across 71.4 kb
Protein
934 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000337836.10NM_000065.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Inherited Complement and Properdin Deficiencies

    • Late complement component deficiency (C5 to C9)Autosomal recessive

      Deficiencies of the terminal complement components that greatly increase the risk of recurrent Neisseria infections, especially meningococcal disease.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Meningococcal vaccination, and in some cases antibiotic prophylaxis, are recommended.

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 2 GenCC submitters rate it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How C6 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where C6 sits. C6 and 8 genes near it on chromosome 5, from 40,677,824 to 41,677,823.Chromosome 55p13.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.340.8 Mb41 Mb41.2 Mb41.4 Mb41.6 MbTTC33: 40,512,218–40,755,975, reverse strandTTC33PTGER4: 40,679,441–40,693,753, forward strandPTGER4PRKAA1: 40,759,389–40,798,374, reverse strandPRKAA1RPL37: 40,822,128–40,835,336, reverse strandRPL37CARD6: 40,841,175–40,860,175, forward strandCARD6C7: 40,909,416–41,020,216, forward strandC7MROH2B: 40,998,017–41,071,342, reverse strandMROH2BC6: 41,142,116–41,213,532, reverse strandC6PLCXD3: 41,306,952–41,510,784, reverse strandPLCXD3Diagram of C6: 18 exons on the reverse strand of chromosome 5Exon 17: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 18: 41,142,116–41,143,006, 891 basesExon 17: 41,149,241–41,149,482, 242 basesExon 16: 41,149,935–41,150,025, 91 basesExon 15: 41,153,810–41,153,998, 189 basesExon 14: 41,154,972–41,155,104, 133 basesExon 13: 41,158,674–41,158,785, 112 basesExon 12: 41,159,082–41,159,253, 172 basesExon 11: 41,160,142–41,160,367, 226 basesExon 10: 41,161,693–41,161,859, 167 basesExon 9: 41,172,225–41,172,347, 123 basesExon 8: 41,176,475–41,176,715, 241 basesExon 7: 41,181,359–41,181,559, 201 basesExon 6: 41,186,070–41,186,208, 139 basesExon 5: 41,195,792–41,195,933, 142 basesExon 4: 41,199,768–41,199,912, 145 basesExon 3: 41,201,558–41,201,714, 157 basesExon 2: 41,203,088–41,203,250, 163 basesExon 1: 41,213,376–41,213,532, 157 bases1816141210864215′3′

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 3.7 kb of the gene's 71.4 kb; 2,805 of those bases code for the protein.

How a genome test reads C6

20

positions in C6 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 71.4 kb of C6, introns included, not only the 3.7 kb of exons.

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 2026-10-16: 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). C6 gene: complement C6. Retrieved 16 October 2026, from https://dantelabs.com/genes/c6

Vancouver

Dante Labs. C6 gene: complement C6 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/c6

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