C7

Summary

C7 (complement C7, HGNC:1346) is a protein-coding gene on chromosome 5p13.1, encoding Complement component C7 (P10643). 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.

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.

Source: NCBI Gene 730 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complement component 7 deficiency (Strong, GenCC)
• Clinical variants (ClinVar): 698 total — 41 pathogenic, 20 likely-pathogenic
• MANE Select transcript: NM_000587

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1346
Approved symbol	C7
Name	complement C7
Location	5p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000112936
Ensembl biotype	protein_coding
OMIM	217070
Entrez	730

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 19 protein_coding, 6 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000313164, ENST00000464864, ENST00000486779, ENST00000489457, ENST00000494960, ENST00000696333, ENST00000696334, ENST00000696441, ENST00000696442, ENST00000706664, ENST00000706665, ENST00000706666, ENST00000706667, ENST00000706668, ENST00000908409, ENST00000908410, ENST00000908411, ENST00000908412, ENST00000908413, ENST00000908414, ENST00000908415, ENST00000908416, ENST00000908417, ENST00000908418, ENST00000971307, ENST00000971308, ENST00000971309, ENST00000971310, ENST00000971311

RefSeq mRNA: 1 — MANE Select: NM_000587 NM_000587

CCDS: CCDS47201

Canonical transcript exons

ENST00000313164 — 18 exons

Exon	Start	End
ENSE00001869809	40964741	40964873
ENSE00001874313	40972403	40972594
ENSE00003589391	40979725	40979909
ENSE00003967056	40981392	40984643
ENSE00003967175	40909497	40909616
ENSE00003967361	40945198	40945368
ENSE00003967362	40934325	40934466
ENSE00003967363	40947602	40947845
ENSE00003967367	40955387	40955553
ENSE00003967369	40959449	40959620
ENSE00003967370	40962085	40962172
ENSE00003967371	40958033	40958261
ENSE00003967372	40949904	40950014
ENSE00003967373	40976750	40976840
ENSE00003967375	40931064	40931139
ENSE00003967377	40928580	40928635
ENSE00003967378	40937552	40937690
ENSE00003967379	40936338	40936485

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 99.71.

FANTOM5 (CAGE): breadth broad, TPM avg 8.5583 / max 2104.7805, expressed in 266 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56240	7.8670	237
56241	0.4174	136
56243	0.0682	34
203536	0.0659	25
56242	0.0434	20
56250	0.0256	4
56251	0.0188	3
56247	0.0170	1
56246	0.0130	1
56245	0.0085	2

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right ovary	UBERON:0002118	99.71	gold quality
superficial temporal artery	UBERON:0001614	99.70	gold quality
pericardium	UBERON:0002407	99.68	gold quality
right adrenal gland cortex	UBERON:0035827	99.63	gold quality
adrenal gland	UBERON:0002369	99.62	gold quality
mucosa of stomach	UBERON:0001199	99.61	gold quality
right adrenal gland	UBERON:0001233	99.60	gold quality
left adrenal gland	UBERON:0001234	99.60	gold quality
adrenal cortex	UBERON:0001235	99.60	gold quality
left adrenal gland cortex	UBERON:0035825	99.57	gold quality
metanephros cortex	UBERON:0010533	99.55	gold quality
gall bladder	UBERON:0002110	99.54	gold quality
right coronary artery	UBERON:0001625	99.53	gold quality
right atrium auricular region	UBERON:0006631	99.53	gold quality
left uterine tube	UBERON:0001303	99.52	gold quality
left ovary	UBERON:0002119	99.51	gold quality
adrenal tissue	UBERON:0018303	99.48	gold quality
lower lobe of lung	UBERON:0008949	99.40	gold quality
peritoneum	UBERON:0002358	99.38	gold quality
omental fat pad	UBERON:0010414	99.38	gold quality
coronary artery	UBERON:0001621	99.33	gold quality
left coronary artery	UBERON:0001626	99.32	gold quality
right lung	UBERON:0002167	99.14	gold quality
cardiac atrium	UBERON:0002081	99.12	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.97	gold quality
ovary	UBERON:0000992	98.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.94	gold quality
lower esophagus	UBERON:0013473	98.93	gold quality
upper lobe of lung	UBERON:0008948	98.90	gold quality
upper lobe of left lung	UBERON:0008952	98.87	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-GEOD-81547	yes	12215.34
E-GEOD-134144	yes	2879.96
E-MTAB-8410	yes	2339.07
E-CURD-126	yes	1844.41
E-MTAB-9906	yes	872.83
E-MTAB-8221	yes	600.04
E-ANND-5	yes	531.69
E-HCAD-1	yes	84.75
E-MTAB-10287	yes	26.20
E-HCAD-9	yes	21.15
E-CURD-46	yes	19.47
E-GEOD-130148	yes	6.24
E-MTAB-10553	yes	5.85
E-MTAB-8381	no	527.55
E-GEOD-124858	no	1.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting C7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-154-3P	99.50	70.05	831

Literature-anchored findings (GeneRIF, showing 24)

• To determine transcriptional regulation of the human complement component C7, a 1 kb promoter fragment was cloned and the transcription start site was determined. C7 is expressed by the hepatoma-derived cell line Hep-3B, but not by Hep-G2. (PMID:12595902)
• A model is suggested for an irreversible membrane attack complex assembly in which the complement 7 factor I modules, but not those in complement 6, are bound to the C345C (netrin receptor) domain of complement 5 within the fully assembled complex. (PMID:15383587)
• The interaction between the factor I domain of C7 and the C345C domain at the C terminus of the C5 alpha-chain plays an essential role in complement membrane attack complex formation and complement lytic activity. (PMID:15879120)
• recurrence of fulminant meningococcal disease in a complement component C7-deficient patient (PMID:15889368)
• Cell cycle induction by C5b-9 in aortic endothelial cells is RGC-32 dependent and this is in part through regulation of Akt and growth factor release. (PMID:19162005)
• membrane associated C7 acts as a trap for the late complement components to control excessive inflammation induced by SC5b-9 (PMID:19179470)
• C7 is associated with multiple sclerosis pathogenesis. (PMID:19221116)
• Data show that the two C7-FIMs pack closely together with an approximate 2-fold rotational symmetry that is rarely seen in module pairs and has not been observed in FD-containing proteins. (PMID:19419965)
• Complement C5b-9 induce a JNK/Bid-dependent and JNK-independent necrotic cell death. (PMID:19864026)
• C7 isoelectric focusing variants can determine meningococcal killing in the early stage of infection when antibody-independent killing prevails. (PMID:19931914)
• These overall results suggest a lack of strong association with the C2 and C7 gene polymorphisms to the susceptibility of systemic lupus erythematosus in the Malaysian population. (PMID:21881993)
• Studies indicate that the deletion defect may be a more commonly distributed cause of C7 deficiency in Ireland. (PMID:22206826)
• Borrelial CspA binds the human terminal complement components C7 and C9 and blocks assembly and membrane insertion of the terminal complement complex (TCC). (PMID:23943762)
• Complement C5b-9 complex sensitizes 661W photoreceptor cells to both apoptosis and necroptosis. (PMID:25735751)
• Complement proteins C7 and CFH control the stemness of liver cancer cells via LSF-1 pathway. (PMID:26723877)
• The complement C7 rs6876739 CC genotypes and mannan-binding lectin (MBL2) gene polymorphisms of liver donors were significantly associated with bacterial infection in recipients. (PMID:27063552)
• Two case reports of C7 deficiency leading to recurrent meningitis and other bacterial infections are described. (PMID:28078901)
• this study shows that GG genotype of C7 provides protection against fibrosis severity while showing a higher risk for hepatocellular carcinoma in patients with hepatitis C (PMID:29966690)
• The complement C7 variant rs3792646 is associated with amyotrophic lateral sclerosis in a Han Chinese population. (PMID:33303220)
• Evaluation of Serum and Gene Expression of Galectin-4, Interleukin-27, and Complement-7 in Hepatitis C Virus-Infected Egyptian Patients. (PMID:33381596)
• Recipient C7 rs9292795 genotype and the risk of hepatocellular carcinoma recurrence after orthotopic liver transplantation in a Han Chinese population. (PMID:33964921)
• Similarities and differences in the structures and proteoform profiles of the complement proteins C6 and C7. (PMID:34241972)
• Complement component 7 is associated with total- and cardiac death in chest-pain patients with suspected acute coronary syndrome. (PMID:34649504)
• Functional genetic variants in complement component 7 confer susceptibility to gastric cancer. (PMID:35111412)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	c7a	ENSDARG00000042172
danio_rerio	c7b	ENSDARG00000057121
mus_musculus	C7	ENSMUSG00000079105
rattus_norvegicus	C7	ENSRNOG00000061379

Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SUSD6 (ENSG00000100647), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)

Protein

Protein identifiers

Complement component C7 — P10643 (reviewed: P10643)

All UniProt accessions (3): A0A8Q3SIM0, A0A8Q3WL76, P10643

UniProt curated annotations — full annotation on UniProt →

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. The MAC is initiated by proteolytic cleavage of C5 into complement C5b in response to the classical, alternative, lectin and GZMK complement pathways. The complement pathways consist in a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. C7 serves as a membrane anchor. During MAC assembly, associates with C5b and C6 to form the C5b-7 complex, a key lipophilic precursor of the MAC complex, which associates with the outer leaflet and reduces the energy for membrane bending.

Subunit / interactions. Monomer or dimer; as a C5b-7 complex it can also form multimeric rosettes. Component of the membrane attack complex (MAC), composed of complement C5b, C6, C7, C8A, C8B, C8G and multiple copies of the pore-forming subunit C9.

Subcellular location. Secreted. Target cell membrane.

Post-translational modifications. C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.

Disease relevance. Complement component 7 deficiency (C7D) [MIM:610102] A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Activity regulation. Membrane attack complex (MAC) assembly is inhibited by CD59, thereby protecting self-cells from damage during complement activation. MAC assembly is also inhibited by clusterin (CLU) chaperones that inhibit polymerization of C9.

Similarity. Belongs to the complement C6/C7/C8/C9 family.

RefSeq proteins (1): NP_000578* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR000884	TSP1_rpt	Repeat
IPR001862	MAC_perforin	Family
IPR002172	LDrepeatLR_classA_rpt	Repeat
IPR003884	FacI_MAC	Domain
IPR020863	MACPF_CS	Conserved_site
IPR020864	MACPF	Domain
IPR023415	LDLR_class-A_CS	Conserved_site
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR036055	LDL_receptor-like_sf	Homologous_superfamily
IPR036383	TSP1_rpt_sf	Homologous_superfamily
IPR040729	Kazal_3	Domain
IPR048825	C7_KAZAL	Domain
IPR048827	C7_FIM2_N	Domain

Pfam: PF00057, PF00084, PF00090, PF01823, PF18434, PF21284, PF21330

UniProt features (135 total): strand 44, disulfide bond 28, helix 14, sequence variant 10, turn 8, region of interest 7, glycosylation site 7, domain 7, sequence conflict 5, compositionally biased region 3, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
8B0F	ELECTRON MICROSCOPY	3
7NYD	ELECTRON MICROSCOPY	3.27
8B0G	ELECTRON MICROSCOPY	3.3
8B0H	ELECTRON MICROSCOPY	3.3
7NYC	ELECTRON MICROSCOPY	3.54
6H03	ELECTRON MICROSCOPY	5.6
6H04	ELECTRON MICROSCOPY	5.6
2WCY	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10643-F1	80.11	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (28): 28–63, 39–73, 42–79, 85–96, 91–109, 103–119, 128–165, 337–353, 433–560, 455–505, 457–473, 460–475, 477–486, 512–545, 523–535, 571–613, 599–626, 631–673, 659–688, 702–713 …

Glycosylation sites (7): 36, 202, 503, 506, 509, 696, 754

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-166665	Terminal pathway of complement
R-HSA-977606	Regulation of Complement cascade

MSigDB gene sets: 186 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GCANCTGNY_MYOD_Q6, TOMLINS_PROSTATE_CANCER_DN, CAGCTG_AP4_Q5, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, TANG_SENESCENCE_TP53_TARGETS_UP, GOBP_B_CELL_MEDIATED_IMMUNITY, CAIRO_HEPATOBLASTOMA_CLASSES_DN, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MODULE_75, GOBP_COMPLEMENT_ACTIVATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY

GO Biological Process (10): complement activation (GO:0006956), complement activation, alternative pathway (GO:0006957), complement activation, classical pathway (GO:0006958), killing of cells of another organism (GO:0031640), positive regulation of immune response (GO:0050778), transmembrane transport (GO:0055085), complement activation, GZMK pathway (GO:0160257), immune system process (GO:0002376), immune response (GO:0006955), innate immune response (GO:0045087)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), membrane attack complex (GO:0005579), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), other organism cell membrane (GO:0044218), extracellular exosome (GO:0070062), membrane (GO:0016020), transmembrane transporter complex (GO:1902495)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Complement cascade	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
complement activation	3
innate immune response	2
immune response	2
cellular anatomical structure	2
immune effector process	1
activation of immune response	1
humoral immune response	1
protein activation cascade	1
humoral immune response mediated by circulating immunoglobulin	1
cell killing	1
disruption of cell in another organism	1
positive regulation of immune system process	1
positive regulation of response to stimulus	1
regulation of immune response	1
transport	1
cellular process	1
biological_process	1
immune system process	1
response to stimulus	1
defense response to symbiont	1
binding	1
pore complex	1
plasma membrane protein complex	1
membrane	1
cell periphery	1
other organism part	1
extracellular vesicle	1
membrane protein complex	1
transporter complex	1

Protein interactions and networks

STRING

742 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C7	C5	P01031	687
C7	C4A	P01028	603
C7	C3	P01024	599
C7	CLU	P10909	553
C7	HP	P00737	541
C7	APCS	P02743	535
C7	A2M	P01023	513
C7	CFI	P05156	491
C7	CD5L	O43866	485
C7	C2	P06681	477
C7	CFH	P08603	471
C7	PLG	P00747	470
C7	C6	P13671	465
C7	LUM	P51884	464
C7	CFHR1	Q03591	461

IntAct

12 interactions, top by confidence:

A	B	Type	Score
C5	C9	psi-mi:“MI:0915”(physical association)	0.550
TRPS1	MTA2	psi-mi:“MI:0914”(association)	0.530
C7	FABP6	psi-mi:“MI:0915”(physical association)	0.400
ZYG11B	C7	psi-mi:“MI:0915”(physical association)	0.400
C7	PA	psi-mi:“MI:0915”(physical association)	0.370
CFTR	C7	psi-mi:“MI:0915”(physical association)	0.370
	C7	psi-mi:“MI:0915”(physical association)	0.370
CCDC141	C7	psi-mi:“MI:0914”(association)	0.350
	C5	psi-mi:“MI:0915”(physical association)	0.320
C7		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): C7 (Affinity Capture-MS), C7 (Reconstituted Complex), C7 (Reconstituted Complex), C7 (Reconstituted Complex), FABP6 (Affinity Capture-MS), C7 (Affinity Capture-MS), C7 (PCA), C7 (Proximity Label-MS), YBX3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GTW7, A0A1D5NSK0, A0A1L8HYT7, A0A286YEC0, A0M8R7, A0M8S8, A1X150, E2RK30, O60486, O62446, P08581, P08F94, P10643, P16056, P97523, Q00PJ8, Q07DV8, Q07DY1, Q07DZ1, Q07E01, Q07E24, Q07E37, Q07E48, Q09YH7, Q09YI9, Q09YK0, Q09YL1, Q09YN5, Q108U6, Q2IBA6, Q2IBC0, Q2IBD8, Q2IBF2, Q2IBG7, Q2QL89, Q2QLA9, Q2QLC0, Q2QLE0, Q2QLF1, Q2QLG5

Diamond homologs: A0A1D5NSM8, A0JNA2, A2AVA0, A2AX52, D3YXF5, O02839, O19063, O35764, O43405, O70340, O76536, O89029, O95502, O96530, P02741, P02743, P06205, P06206, P06207, P06681, P07202, P07629, P08607, P09871, P0C6B8, P10643, P12246, P13944, P14151, P14847, P15697, P18337, P23680, P32018, P47970, P47971, P47972, P48199, P49254, P49262

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
C7	“form complex”	“Membrane attack complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

698 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	41
Likely pathogenic	20
Uncertain significance	303
Likely benign	260
Benign	25

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
12103	NM_000587.4(C7):c.2184T>A (p.Cys728Ter)	Pathogenic
12104	NM_000587.4(C7):c.2140_2141del (p.Val714fs)	Pathogenic
12106	NM_000587.4(C7):c.63-1G>A	Pathogenic
12107	C7, EX7-8DEL	Pathogenic
12109	NM_000587.4(C7):c.1314del (p.Lys438fs)	Pathogenic
12111	NM_000587.4(C7):c.1458T>A (p.Cys486Ter)	Pathogenic
12112	C7, 11-BP DEL, NT631	Pathogenic
1399210	NM_000587.4(C7):c.1063G>T (p.Glu355Ter)	Pathogenic
1430910	NM_000587.4(C7):c.1518G>A (p.Trp506Ter)	Pathogenic
1437215	NM_000587.4(C7):c.2166-1_2166insGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATACTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATTCTTTTCAG	Pathogenic
1452580	NM_000587.4(C7):c.2202del (p.Ser734fs)	Pathogenic
1453343	NM_000587.4(C7):c.93del (p.Phe32fs)	Pathogenic
1455140	NC_000005.9:g.(?40947684)(40950136_?)del	Pathogenic
1460411	NM_000587.4(C7):c.468del (p.Asn157fs)	Pathogenic
1901592	NM_000587.4(C7):c.2188C>T (p.Gln730Ter)	Pathogenic
1953572	NM_000587.4(C7):c.877C>T (p.Arg293Ter)	Pathogenic
2050643	NM_000587.4(C7):c.811C>T (p.Gln271Ter)	Pathogenic
2053213	NM_000587.4(C7):c.781C>T (p.Gln261Ter)	Pathogenic
2123406	NM_000587.4(C7):c.721G>T (p.Glu241Ter)	Pathogenic
2188741	NM_000587.4(C7):c.952del (p.Tyr318fs)	Pathogenic
2717734	NM_000587.4(C7):c.38dup (p.Gly14fs)	Pathogenic
2770748	NM_000587.4(C7):c.881_882del (p.Arg294fs)	Pathogenic
280140	NM_000587.4(C7):c.1924_1925del (p.His643fs)	Pathogenic
2801945	NM_000587.4(C7):c.2092_2095del (p.Ala698fs)	Pathogenic
2990929	NM_000587.4(C7):c.448C>T (p.Gln150Ter)	Pathogenic
3001628	NM_000587.4(C7):c.936del (p.Glu312fs)	Pathogenic
3246448	NC_000005.9:g.(?40958115)(40959742_?)del	Pathogenic
3619308	NM_000587.4(C7):c.1088del (p.Ala363fs)	Pathogenic
3646284	NM_000587.4(C7):c.856_857del (p.Leu286fs)	Pathogenic
3656263	NM_000587.4(C7):c.398del (p.Pro133fs)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

5513 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:40955511:G:C	W406C	0.998
5:40955511:G:T	W406C	0.998
5:40955509:T:A	W406R	0.996
5:40955509:T:C	W406R	0.996
5:40972557:G:C	W679C	0.993
5:40972557:G:T	W679C	0.993
5:40958228:T:A	C486S	0.991
5:40958229:G:C	C486S	0.991
5:40936343:T:A	C96S	0.990
5:40936344:G:C	C96S	0.990
5:40972555:T:A	W679R	0.990
5:40972555:T:C	W679R	0.990
5:40931091:G:C	W30C	0.989
5:40931091:G:T	W30C	0.989
5:40934457:T:A	C91S	0.989
5:40934458:G:C	C91S	0.989
5:40936382:T:A	C109S	0.989
5:40936383:G:C	C109S	0.989
5:40937616:T:A	C165S	0.989
5:40937617:G:C	C165S	0.989
5:40947641:G:C	A260P	0.989
5:40959468:G:C	W503C	0.989
5:40959468:G:T	W503C	0.989
5:40959477:G:C	W506C	0.989
5:40959477:G:T	W506C	0.989
5:40937657:G:C	R178S	0.988
5:40937657:G:T	R178S	0.988
5:40958094:T:C	L441P	0.988
5:40958229:G:A	C486Y	0.988
5:40945245:G:C	W205C	0.987

dbSNP variants (sampled 300 via entrez): RS1000050643 (5:40967126 C>T), RS1000070754 (5:40977030 A>G), RS1000080252 (5:40914203 C>T), RS1000082606 (5:40932508 C>T), RS1000122211 (5:40953099 T>C), RS1000166765 (5:40923406 A>C), RS1000175937 (5:40910227 G>A,T), RS1000192666 (5:40947817 T>A,C,G), RS1000234410 (5:40916403 T>C), RS1000248954 (5:40969636 C>T), RS1000280114 (5:40982295 C>T), RS1000285419 (5:40956144 A>T), RS1000327834 (5:40925591 A>G), RS1000356052 (5:40944332 G>A), RS1000356297 (5:40944618 T>C)

Disease associations

OMIM: gene MIM:217070 | disease phenotypes: MIM:610102

GenCC curated gene-disease

Disease	Classification	Inheritance
complement component 7 deficiency	Strong	Autosomal recessive

Mondo (1): complement component 7 deficiency (MONDO:0012412)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566443	Complement Component 7 Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	2
Nickel	affects binding, decreases expression	2
Silicon Dioxide	affects expression, increases expression	2
sotorasib	affects cotreatment, increases expression	1
bisphenol A	decreases expression	1
alpha-cobratoxin	decreases reaction, increases expression	1
tris(chloroethyl)phosphate	decreases expression	1
tri-(2-chloroisopropyl)phosphate	decreases expression	1
corosolic acid	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
trametinib	increases expression, affects cotreatment	1
NVP-BKM120	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	affects expression, increases abundance	1
Cacodylic Acid	affects expression, increases abundance	1
Folic Acid	decreases expression	1
Hydrogen Peroxide	affects expression	1
Mecamylamine	decreases reaction, increases expression	1
Nicotine	decreases reaction, increases expression	1
Triclosan	decreases expression	1
Tubocurarine	decreases reaction, increases expression, decreases expression	1
Zinc	decreases expression	1
Asbestos, Crocidolite	increases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.