• Gene id: 729

Gene Summary

• Gene Symbol: C6   Gene   UCSC   Ensembl
• Gene name: complement C6
• Alternate names: complement component C6, complement component 6,
• Gene location: 5p13.1 (49539537: 49454469)     Exons: 23     NC_000010.11
• Gene summary(Entrez): This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 def
• OMIM: 217050

SNPs

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

Protein Summary

• Protein general information: P13671  
  • Name: Complement component C6
  • Length: 934  
  • Mass: 104786
• Sequence:

  MARRSVLYFILLNALINKGQACFCDHYAWTQWTSCSKTCNSGTQSRHRQIVVDKYYQENFCEQICSKQETRECNW
  QRCPINCLLGDFGPWSDCDPCIEKQSKVRSVLRPSQFGGQPCTAPLVAFQPCIPSKLCKIEEADCKNKFRCDSGR
  CIARKLECNGENDCGDNSDERDCGRTKAVCTRKYNPIPSVQLMGNGFHFLAGEPRGEVLDNSFTGGICKTVKSSR
  TSNPYRVPANLENVGFEVQTAEDDLKTDFYKDLTSLGHNENQQGSFSSQGGSSFSVPIFYSSKRSENINHNSAFK
  QAIQASHKKDSSFIRIHKVMKVLNFTTKAKDLHLSDVFLKALNHLPLEYNSALYSRIFDDFGTHYFTSGSLGGVY
  DLLYQFSSEELKNSGLTEEEAKHCVRIETKKRVLFAKKTKVEHRCTTNKLSEKHEGSFIQGAEKSISLIRGGRSE
  YGAALAWEKGSSGLEEKTFSEWLESVKENPAVIDFELAPIVDLVRNIPCAVTKRNNLRKALQEYAAKFDPCQCAP
  CPNNGRPTLSGTECLCVCQSGTYGENCEKQSPDYKSNAVDGQWGCWSSWSTCDATYKRSRTRECNNPAPQRGGKR
  CEGEKRQEEDCTFSIMENNGQPCINDDEEMKEVDLPEIEADSGCPQPVPPENGFIRNEKQLYLVGEDVEISCLTG
  FETVGYQYFRCLPDGTWRQGDVECQRTECIKPVVQEVLTITPFQRLYRIGESIELTCPKGFVVAGPSRYTCQGNS
  WTPPISNSLTCEKDTLTKLKGHCQLGQKQSGSECICMSPEEDCSHHSEDLCVFDTDSNDYFTSPACKFLAEKCLN
  NQQLHFLHIGSCQDGRQLEWGLERTRLSSNSTKKESCGYDTCYDWEKCSASTSKCVCLLPPQCFKGGNQLYCVKM
  GSSTSEKTLNICEVGTIRCANRKMEILHPGKCLA

• Structural information:
  • Protein Domains: (22..7-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (81..13-)
    2 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (138..17-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROS-)
  • Interpro: IPR037563  IPR003884  IPR002350  IPR036055  IPR023415   IPR002172  IPR001862  IPR020864  IPR020863  IPR035976  IPR000436  IPR000884  IPR036383  
  • Prosite: PS00022 PS51465 PS01209 PS50068 PS00279 PS51412 PS50923 PS50092
  • CDD: cd00033 cd00112
  • PDB: 3T5O 4A5W 4E0S 6H03 6H04
  • PDBsum: 3T5O 4A5W 4E0S 6H03 6H04
  • STRING: ENSP00000263413
• Other Databases: GeneCards:  C6  Malacards:  C6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005579	membrane attack complex	IDA	cellular component
GO:0005579	membrane attack complex	IEA	cellular component
GO:0006956	complement activation	IEA	biological process
GO:0006955	immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0019835	cytolysis	IEA	biological process
GO:0005579	membrane attack complex	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0006956	complement activation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0030449	regulation of complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001970	positive regulation of activation of membrane attack complex	IEA	biological process
GO:0045917	positive regulation of complement activation	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05322	Systemic lupus erythematosus
hsa04610	Complement and coagulation cascades
hsa05020	Prion diseases

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)