Gene Gene information from NCBI Gene database.
Entrez ID 730
Gene name Complement C7
Gene symbol C7
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5p13.1
Summary 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
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs121964920 C>A,T Pathogenic Coding sequence variant, missense variant
rs121964921 G>A,C,T Pathogenic Coding sequence variant, missense variant
rs121964922 T>A Pathogenic Stop gained, coding sequence variant
rs139491301 T>- Likely-pathogenic Coding sequence variant, frameshift variant
rs201240159 T>C Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
258
miRTarBase ID miRNA Experiments Reference
MIRT852027 hsa-miR-1206 CLIP-seq
MIRT852028 hsa-miR-1253 CLIP-seq
MIRT852029 hsa-miR-1268 CLIP-seq
MIRT852030 hsa-miR-1268b CLIP-seq
MIRT852031 hsa-miR-1285 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005579 Component Membrane attack complex IBA
GO:0005579 Component Membrane attack complex IDA 22832194, 26841837, 27052168, 30552328, 30643019, 31061395, 32569291, 36797260
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
217070 1346 ENSG00000112936
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10643
Protein name Complement component C7
Protein function Component of the membrane attack complex (MAC), a multiprotein complex activated by the complement cascade, which inserts into a target cell membrane and forms a pore, leading to target cell membrane rupture and cell lysis (PubMed:22832194, PubM
PDB 2WCY , 6H03 , 6H04 , 7NYC , 7NYD , 8B0F , 8B0G , 8B0H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00090 TSP_1 33 79 Thrombospondin type 1 domain Domain
PF00057 Ldl_recept_a 83 119 Low-density lipoprotein receptor domain class A Repeat
PF01823 MACPF 227 448 MAC/Perforin domain Domain
PF00090 TSP_1 501 549 Thrombospondin type 1 domain Domain
PF00084 Sushi 571 626 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 631 688 Sushi repeat (SCR repeat) Domain
PF18434 Kazal_3 791 838 Kazal-type serine protease inhibitor domain Domain
Sequence
MKVISLFILVGFIGEFQSFSSASSPVNCQWDFYAPWSECNGCTKTQTRRRSVAVYGQYGG
QPCVGNAFETQSCEPTRGC
PTEEGCGERFRCFSGQCISKSLVCNGDSDCDEDSADEDRCE
DSERRPSCDIDKPPPNIELTGNGYNELTGQFRNRVINTKSFGGQCRKVFSGDGKDFYRLS
GNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSSSRKRSFFRSSSSSSRSYTSHTN
EIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPFWKELSHLPSLYDYSAYRRLIDQYG
THYLQSGSLGGEYRVLFYVDSEKLKQNDFNSVEEKKCKSSGWHFVVKFSSHGCKELENAL
KAASGTQNNVLRGEPFIRGGGAGFISGLSYLELDNPAGNKRRYSAWAESVTNLPQVIKQK
LTPLYELVKEVPCASVKKLYLKWALEEY
LDEFDPCHCRPCQNGGLATVEGTHCLCHCKPY
TFGAACEQGVLVGNQAGGVDGGWSCWSSWSPCVQGKKTRSRECNNPPPSGGGRSCVGETT
ESTQCEDEE
LEHLRLLEPHCFPLSLVPTEFCPSPPALKDGFVQDEGTMFPVGKNVVYTCN
EGYSLIGNPVARCGEDLRWLVGEMHC
QKIACVLPVLMDGIQSHPQKPFYTVGEKVTVSCS
GGMSLEGPSAFLCGSSLKWSPEMKNARC
VQKENPLTQAVPKCQRWEKLQNSRCVCKMPYE
CGPSLDVCAQDERSKRILPLTVCKMHVLHCQGRNYTLTGRDSCTLPASAEKACGACPLWG
KCDAESSKCVCREASECEEEGFSICVEVNGKEQTMSECEAGALRCRGQSISVTSIRPCAA
ETQ
Sequence length 843
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades
Regulation of actin cytoskeleton
Prion disease
Coronavirus disease - COVID-19
Systemic lupus erythematosus
  Terminal pathway of complement
Regulation of Complement cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
C7-related disorder Likely pathogenic; Pathogenic rs200365542, rs769923441, rs139491301 RCV003395502
RCV003395519
RCV003419845
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component 7 deficiency Likely pathogenic; Pathogenic rs769984570, rs531103546, rs764871530, rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs139491301, rs1579848888, rs779723422, rs770367814 RCV002308495
RCV000490515
RCV002259331
RCV000012885
RCV000012886
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
C7 and C6 deficiency, combined subtotal Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations