• Gene id: 730

Gene Summary

• Gene Symbol: C7   Gene   UCSC   Ensembl
• Gene name: complement C7
• Alternate names: complement component C7, complement component 7,
• Gene location: 5p13.1 (40909496: 40984642)     Exons: 18     NC_000005.10
• Gene summary(Entrez): This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholest
• OMIM: 604833

SNPs

rs808119

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

NC_000023.11   g.8536792C>A
NC_000023.11   g.8536792C>T
NC_000023.10   g.8504833C>A
NC_000023.10   g.8504833C>T
NG_007088.2   g.200395G>T
NG_007088.2   g.200395G>A
NG_007088.1   g.200395G>T
NG_007088.1   g.200395G>A
NM_000216.4   c.1600G>T
NM_000216.4   c.1600G>A
NM_000  

rs809446

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

NC_000023.11   g.8535600G>A
NC_000023.10   g.8503641G>A
NG_007088.2   g.201587C>T
NG_007088.1   g.201587C>T
NM_000216.4   c.1833C>T
NM_000216.3   c.1833C>T
NM_000216.2   c.1833C>T|SEQ=[G/A]|GENE=ANOS1

Protein Summary

• Protein general information: P10643  
  • Name: Complement component C7
  • Length: 843  
  • Mass: 93518
• Sequence:

  MKVISLFILVGFIGEFQSFSSASSPVNCQWDFYAPWSECNGCTKTQTRRRSVAVYGQYGGQPCVGNAFETQSCEP
  TRGCPTEEGCGERFRCFSGQCISKSLVCNGDSDCDEDSADEDRCEDSERRPSCDIDKPPPNIELTGNGYNELTGQ
  FRNRVINTKSFGGQCRKVFSGDGKDFYRLSGNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSSSRKRSFF
  RSSSSSSRSYTSHTNEIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPFWKELSHLPSLYDYSAYRRLIDQYG
  THYLQSGSLGGEYRVLFYVDSEKLKQNDFNSVEEKKCKSSGWHFVVKFSSHGCKELENALKAASGTQNNVLRGEP
  FIRGGGAGFISGLSYLELDNPAGNKRRYSAWAESVTNLPQVIKQKLTPLYELVKEVPCASVKKLYLKWALEEYLD
  EFDPCHCRPCQNGGLATVEGTHCLCHCKPYTFGAACEQGVLVGNQAGGVDGGWSCWSSWSPCVQGKKTRSRECNN
  PPPSGGGRSCVGETTESTQCEDEELEHLRLLEPHCFPLSLVPTEFCPSPPALKDGFVQDEGTMFPVGKNVVYTCN
  EGYSLIGNPVARCGEDLRWLVGEMHCQKIACVLPVLMDGIQSHPQKPFYTVGEKVTVSCSGGMSLEGPSAFLCGS
  SLKWSPEMKNARCVQKENPLTQAVPKCQRWEKLQNSRCVCKMPYECGPSLDVCAQDERSKRILPLTVCKMHVLHC
  QGRNYTLTGRDSCTLPASAEKACGACPLWGKCDAESSKCVCREASECEEEGFSICVEVNGKEQTMSECEAGALRC
  RGQSISVTSIRPCAAETQ

• Structural information:
  • Protein Domains: (27..8-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (83..12-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (124..45-)
    (/note="MACPF-)
    (/evidence="ECO:0000255|PROSITE-Pro-)
  • Interpro: IPR037564  IPR003884  IPR040729  IPR036055  IPR023415   IPR002172  IPR001862  IPR020864  IPR020863  IPR035976  IPR000436  IPR000884  IPR036383  
  • Prosite: PS00022 PS01186 PS01209 PS50068 PS00279 PS51412 PS50923 PS50092
  • CDD: cd00033 cd00112
  • PDB: 2WCY 6H03 6H04
  • PDBsum: 2WCY 6H03 6H04
  • STRING: ENSP00000322061
• Other Databases: GeneCards:  C7  Malacards:  C7

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:0045087	innate immune response	IEA	biological process
GO:0006957	complement activation, alternative pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005579	membrane attack complex	IEA	cellular component
GO:0019835	cytolysis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0005579	membrane attack complex	TAS	cellular component
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:0030449	regulation of complement activation	TAS	biological process
GO:0006883	cellular sodium ion homeostasis	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
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray