Complement component 6

Available structures

Human UniProt search: PDBe RCSB

List of PDB id codes
3T5O, 4A5W, 4E0S

Identifiers

Aliases

C6, complement C6

External IDs

OMIM: 217050; MGI: 88233; HomoloGene: 47; GeneCards: C6; OMA:C6 - orthologs

Gene location (Human)

Chr.	Chromosome 5 (human)^[1]

Band	5p13.1	Start	41,142,116 bp^[1]
Band	5p13.1	End	41,261,438 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 15 (mouse)^[2]

Band	15 A1\|15 1.97 cM	Start	4,756,657 bp^[2]
Band	15 A1\|15 1.97 cM	End	4,844,449 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right lobe of liver

right ventricle

right uterine tube

body of pancreas

bronchial epithelial cell

pancreatic ductal cell

gallbladder

Achilles tendon

synovial joint

subcutaneous adipose tissue

Top expressed in

left lobe of liver

right lung lobe

left lung

left lung lobe

white adipose tissue

spleen

mucosa of small intestine

subcutaneous adipose tissue

duodenum

skin of abdomen

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	protein binding
Cellular component	extracellular region extracellular exosome membrane attack complex
Biological process	positive regulation of activation of membrane attack complex immune system process complement activation in utero embryonic development cytolysis regulation of complement activation immune response positive regulation of angiogenesis complement activation, classical pathway positive regulation of complement activation innate immune response
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


729


12274

Ensembl


ENSG00000039537


ENSMUSG00000022181

UniProt


P13671


n/a

RefSeq (mRNA)


NM_000065 NM_001115131


NM_016704

RefSeq (protein)


NP_000056 NP_001108603


n/a

Location (UCSC)

Chr 5: 41.14 – 41.26 Mb

Chr 15: 4.76 – 4.84 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Complement component 6 is a protein that in humans is encoded by the C6 gene.^[5]

Complement component 6 is a protein involved in the complement system. It is part of the membrane attack complex which can insert into the cell membrane and cause the cell to lyse.

People with C6 deficiency are prone to bacterial infection.^[5]

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References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000039537 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022181 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: complement component 6 C6 complement C6 (Homo sapiens (human)) Gene ID: 729". www.ncbi.nlm.nih.gov. 24 November 2020. Retrieved 9 December 2020.

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Cerhan JR, Novak AJ, Fredericksen ZS, et al. (2009). "Risk of non-Hodgkin lymphoma in association with germline variation in complement genes". Br. J. Haematol. 145 (5): 614–23. doi:10.1111/j.1365-2141.2009.07675.x. PMC 2820509. PMID 19344414.
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Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Eid NA, Hussein AA, Elzein AM, et al. (2010). "Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring". Malar. J. 9: 119. doi:10.1186/1475-2875-9-119. PMC 2877684. PMID 20459687.
Fosbrink M, Cudrici C, Tegla CA, et al. (2009). "Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells". Exp. Mol. Pathol. 86 (2): 87–94. doi:10.1016/j.yexmp.2008.12.005. PMC 2699899. PMID 19162005.
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Ennis S, Jomary C, Mullins R, et al. (2008). "Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study". Lancet. 372 (9652): 1828–34. doi:10.1016/S0140-6736(08)61348-3. PMC 5983350. PMID 18842294.
Soejima M, Tachida H, Tsuneoka M, et al. (2005). "Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection". Ann. Hum. Genet. 69 (Pt 3): 239–52. doi:10.1046/j.1529-8817.2005.00165.x. PMID 15845028.
Bulla R, Bossi F, Agostinis C, et al. (2009). "Complement production by trophoblast cells at the feto-maternal interface". J. Reprod. Immunol. 82 (2): 119–25. doi:10.1016/j.jri.2009.06.124. PMID 19665237.
Gancz D, Donin N, Fishelson Z (2009). "Involvement of the c-jun N-terminal kinases JNK1 and JNK2 in complement-mediated cell death". Mol. Immunol. 47 (2–3): 310–7. doi:10.1016/j.molimm.2009.09.016. PMID 19864026.
Parham KL, Roberts A, Thomas A, et al. (2007). "Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family". Mol. Immunol. 44 (10): 2756–60. doi:10.1016/j.molimm.2006.11.022. PMID 17257682.
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External links

Complement+C6 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

Complement system

Pathways

Activators/enzymes

Early	C: C1 C1q C1r C1s C4 C4a C4b C2 L: MASP1/MASP2 MBL A: Factor B Factor D Factor P/Properdin
Middle	C3 C3a C3b/iC3b C5 C5a C5b C3-convertase C5-convertase
Late	MAC C5b C6 C7 C8 C9

Inhibitors

CL: C4BP

A: Factor H

Complement receptors

Function

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

This page was last edited on 8 January 2024, at 05:30

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References

Further reading

External links