C7 Chromosome 5
Complement C7
Upload your DNA to see your personal genotypes for variants in C7.
What This Gene Does
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 cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
"Sushi domain containing|Complement system activation components|Membrane Attack complex"
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000112936
Associated Conditions (6)
Complement component 7 deficiency
C7 and C6 deficiency
combined subtotal
C7-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Key Variants
RS121964920
Conflicting classifications of pathogenicity
Complement component 7 deficiency, C7 and C6 deficiency, combined subtotal
Health Risk
RS121964921
Conflicting classifications of pathogenicity
Complement component 7 deficiency, C7-related disorder, Complement component 7 deficiency
Health Risk
RS151097629
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200240917
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200737768
Conflicting classifications of pathogenicity
Health Risk
RS201240159
Conflicting classifications of pathogenicity
Complement component 7 deficiency, Ovarian serous cystadenocarcinoma, Complement component 7 deficiency
Health Risk
RS369097905
Conflicting classifications of pathogenicity
Complement component 7 deficiency, Inborn genetic diseases, Complement component 7 deficiency
Health Risk
RS369303619
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369760989
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755439553
Conflicting classifications of pathogenicity
Complement component 7 deficiency, Complement component 7 deficiency
Health Risk
RS1041036020
Likely pathogenic
Health Risk
RS1064794728
Likely pathogenic
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121964920 | Health Risk | Conflicting classifications of pathogenicity | Complement component 7 deficiency, C7 and C6 deficiency, combined subtotal |
| RS121964921 | Health Risk | Conflicting classifications of pathogenicity | Complement component 7 deficiency, C7-related disorder, Complement component 7 deficiency |
| RS151097629 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200240917 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200737768 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201240159 | Health Risk | Conflicting classifications of pathogenicity | Complement component 7 deficiency, Ovarian serous cystadenocarcinoma, Complement component 7 deficiency |
| RS369097905 | Health Risk | Conflicting classifications of pathogenicity | Complement component 7 deficiency, Inborn genetic diseases, Complement component 7 deficiency |
| RS369303619 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369760989 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755439553 | Health Risk | Conflicting classifications of pathogenicity | Complement component 7 deficiency, Complement component 7 deficiency |
| RS1041036020 | Health Risk | Likely pathogenic | — |
| RS1064794728 | Health Risk | Likely pathogenic | — |
| RS112844696 | Health Risk | Likely pathogenic | — |
| RS113086994 | Health Risk | Likely pathogenic | — |
| RS1359084962 | Health Risk | Likely pathogenic | — |
| RS1561243383 | Health Risk | Likely pathogenic | — |
| RS1740436185 | Health Risk | Likely pathogenic | — |
| RS1740724748 | Health Risk | Likely pathogenic | — |
| RS2111571890 | Health Risk | Likely pathogenic | — |
| RS376515888 | Health Risk | Likely pathogenic | — |
| RS759285960 | Health Risk | Likely pathogenic | — |
| RS775840176 | Health Risk | Likely pathogenic | — |
| RS778313738 | Health Risk | Likely pathogenic | — |
| RS779723422 | Health Risk | Likely pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS1022194067 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS121964922 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS1225243005 | Health Risk | Pathogenic | — |
| RS1467298230 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS1579848888 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS1740078926 | Health Risk | Pathogenic | — |
| RS1740083267 | Health Risk | Pathogenic | — |
| RS2111579916 | Health Risk | Pathogenic | — |
| RS2111600452 | Health Risk | Pathogenic | — |
| RS2111637536 | Health Risk | Pathogenic | — |
| RS2111731768 | Health Risk | Pathogenic | — |
| RS2478150791 | Health Risk | Pathogenic | — |
| RS2478192839 | Health Risk | Pathogenic | — |
| RS2478193108 | Health Risk | Pathogenic | — |
| RS2478276765 | Health Risk | Pathogenic | — |
| RS387906509 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS758458216 | Health Risk | Pathogenic | — |
| RS764871530 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS768866511 | Health Risk | Pathogenic | — |
| RS769957169 | Health Risk | Pathogenic | — |
| RS770721343 | Health Risk | Pathogenic | — |
| RS774370086 | Health Risk | Pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |
| RS865981027 | Health Risk | Pathogenic | — |
| RS139491301 | Health Risk | Pathogenic/Likely pathogenic | Complement component 7 deficiency, C7-related disorder, Complement component 7 deficiency |
| RS200365542 | Health Risk | Pathogenic/Likely pathogenic | C7-related disorder, C7-related disorder |
| RS531103546 | Health Risk | Pathogenic/Likely pathogenic | Complement component 7 deficiency, Complement component 7 deficiency |