Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	730
Gene name Gene Name - the full gene name approved by the HGNC.	Complement C7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	C7
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5p13.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
rs387906509	T>A	Pathogenic	Coding sequence variant, stop gained
rs531103546	G>T	Pathogenic	Splice acceptor variant
rs764871530	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs779723422	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1064794728	GTA>TT	Likely-pathogenic	Splice acceptor variant, intron variant
rs1579848888	A>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(258)

miRTarBase ID	miRNA	Experiments
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
MIRT852032	hsa-miR-1297	CLIP-seq
MIRT852033	hsa-miR-1908	CLIP-seq
MIRT852034	hsa-miR-2116	CLIP-seq
MIRT852035	hsa-miR-26a	CLIP-seq
MIRT852036	hsa-miR-26b	CLIP-seq
MIRT852037	hsa-miR-3065-5p	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT852039	hsa-miR-3133	CLIP-seq
MIRT852040	hsa-miR-3185	CLIP-seq
MIRT852041	hsa-miR-3187-5p	CLIP-seq
MIRT852042	hsa-miR-323-5p	CLIP-seq
MIRT852043	hsa-miR-3529	CLIP-seq
MIRT852044	hsa-miR-3609	CLIP-seq
MIRT852045	hsa-miR-3672	CLIP-seq
MIRT852046	hsa-miR-3675-3p	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852050	hsa-miR-375	CLIP-seq
MIRT852051	hsa-miR-379	CLIP-seq
MIRT852052	hsa-miR-3909	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT852054	hsa-miR-3927	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852056	hsa-miR-4286	CLIP-seq
MIRT852057	hsa-miR-4434	CLIP-seq
MIRT852058	hsa-miR-4465	CLIP-seq
MIRT852059	hsa-miR-4476	CLIP-seq
MIRT852060	hsa-miR-4486	CLIP-seq
MIRT852061	hsa-miR-4516	CLIP-seq
MIRT852062	hsa-miR-4522	CLIP-seq
MIRT852063	hsa-miR-4531	CLIP-seq
MIRT852064	hsa-miR-4677-5p	CLIP-seq
MIRT852065	hsa-miR-4684-5p	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT852067	hsa-miR-4755-3p	CLIP-seq
MIRT852068	hsa-miR-4773	CLIP-seq
MIRT852069	hsa-miR-520g	CLIP-seq
MIRT852070	hsa-miR-520h	CLIP-seq
MIRT852071	hsa-miR-548ah	CLIP-seq
MIRT852072	hsa-miR-548c-3p	CLIP-seq
MIRT852073	hsa-miR-585	CLIP-seq
MIRT852074	hsa-miR-607	CLIP-seq
MIRT852075	hsa-miR-612	CLIP-seq
MIRT852076	hsa-miR-616	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852078	hsa-miR-661	CLIP-seq
MIRT852079	hsa-miR-663	CLIP-seq
MIRT852080	hsa-miR-665	CLIP-seq
MIRT852081	hsa-miR-766	CLIP-seq
MIRT852082	hsa-miR-876-3p	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq
MIRT1952761	hsa-miR-1252	CLIP-seq
MIRT1952762	hsa-miR-1273g	CLIP-seq
MIRT852031	hsa-miR-1285	CLIP-seq
MIRT1952763	hsa-miR-140-3p	CLIP-seq
MIRT852037	hsa-miR-3065-5p	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT852040	hsa-miR-3185	CLIP-seq
MIRT852041	hsa-miR-3187-5p	CLIP-seq
MIRT852042	hsa-miR-323-5p	CLIP-seq
MIRT852043	hsa-miR-3529	CLIP-seq
MIRT852044	hsa-miR-3609	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852051	hsa-miR-379	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT852054	hsa-miR-3927	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852056	hsa-miR-4286	CLIP-seq
MIRT852059	hsa-miR-4476	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT852069	hsa-miR-520g	CLIP-seq
MIRT852070	hsa-miR-520h	CLIP-seq
MIRT852071	hsa-miR-548ah	CLIP-seq
MIRT1952764	hsa-miR-563	CLIP-seq
MIRT852075	hsa-miR-612	CLIP-seq
MIRT852078	hsa-miR-661	CLIP-seq
MIRT852081	hsa-miR-766	CLIP-seq
MIRT852082	hsa-miR-876-3p	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq
MIRT852027	hsa-miR-1206	CLIP-seq
MIRT852031	hsa-miR-1285	CLIP-seq
MIRT852037	hsa-miR-3065-5p	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT852041	hsa-miR-3187-5p	CLIP-seq
MIRT852042	hsa-miR-323-5p	CLIP-seq
MIRT2190543	hsa-miR-3607-3p	CLIP-seq
MIRT852044	hsa-miR-3609	CLIP-seq
MIRT852045	hsa-miR-3672	CLIP-seq
MIRT2190544	hsa-miR-3686	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT2190545	hsa-miR-3919	CLIP-seq
MIRT2190546	hsa-miR-3922-5p	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852056	hsa-miR-4286	CLIP-seq
MIRT2190547	hsa-miR-4307	CLIP-seq
MIRT852062	hsa-miR-4522	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT852069	hsa-miR-520g	CLIP-seq
MIRT852070	hsa-miR-520h	CLIP-seq
MIRT852071	hsa-miR-548ah	CLIP-seq
MIRT852075	hsa-miR-612	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852078	hsa-miR-661	CLIP-seq
MIRT852081	hsa-miR-766	CLIP-seq
MIRT852082	hsa-miR-876-3p	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq
MIRT852027	hsa-miR-1206	CLIP-seq
MIRT852042	hsa-miR-323-5p	CLIP-seq
MIRT852067	hsa-miR-4755-3p	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852082	hsa-miR-876-3p	CLIP-seq
MIRT1952763	hsa-miR-140-3p	CLIP-seq
MIRT2445841	hsa-miR-1245b-5p	CLIP-seq
MIRT852029	hsa-miR-1268	CLIP-seq
MIRT852030	hsa-miR-1268b	CLIP-seq
MIRT852031	hsa-miR-1285	CLIP-seq
MIRT852033	hsa-miR-1908	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT2445842	hsa-miR-3140-5p	CLIP-seq
MIRT2445843	hsa-miR-3142	CLIP-seq
MIRT852041	hsa-miR-3187-5p	CLIP-seq
MIRT2190543	hsa-miR-3607-3p	CLIP-seq
MIRT2445844	hsa-miR-3662	CLIP-seq
MIRT852046	hsa-miR-3675-3p	CLIP-seq
MIRT2190544	hsa-miR-3686	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852056	hsa-miR-4286	CLIP-seq
MIRT852060	hsa-miR-4486	CLIP-seq
MIRT852065	hsa-miR-4684-5p	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT2445845	hsa-miR-4790-3p	CLIP-seq
MIRT852072	hsa-miR-548c-3p	CLIP-seq
MIRT852073	hsa-miR-585	CLIP-seq
MIRT852075	hsa-miR-612	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852078	hsa-miR-661	CLIP-seq
MIRT852079	hsa-miR-663	CLIP-seq
MIRT852081	hsa-miR-766	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq
MIRT852029	hsa-miR-1268	CLIP-seq
MIRT852030	hsa-miR-1268b	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT2190543	hsa-miR-3607-3p	CLIP-seq
MIRT852046	hsa-miR-3675-3p	CLIP-seq
MIRT2190544	hsa-miR-3686	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852060	hsa-miR-4486	CLIP-seq
MIRT852065	hsa-miR-4684-5p	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT852072	hsa-miR-548c-3p	CLIP-seq
MIRT852073	hsa-miR-585	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq
MIRT852029	hsa-miR-1268	CLIP-seq
MIRT852030	hsa-miR-1268b	CLIP-seq
MIRT852031	hsa-miR-1285	CLIP-seq
MIRT1952763	hsa-miR-140-3p	CLIP-seq
MIRT852033	hsa-miR-1908	CLIP-seq
MIRT852037	hsa-miR-3065-5p	CLIP-seq
MIRT2494577	hsa-miR-3120-5p	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT852041	hsa-miR-3187-5p	CLIP-seq
MIRT2190543	hsa-miR-3607-3p	CLIP-seq
MIRT852044	hsa-miR-3609	CLIP-seq
MIRT2494578	hsa-miR-3664-5p	CLIP-seq
MIRT852045	hsa-miR-3672	CLIP-seq
MIRT852046	hsa-miR-3675-3p	CLIP-seq
MIRT2190544	hsa-miR-3686	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852056	hsa-miR-4286	CLIP-seq
MIRT2494579	hsa-miR-4433	CLIP-seq
MIRT2494580	hsa-miR-4459	CLIP-seq
MIRT852060	hsa-miR-4486	CLIP-seq
MIRT852062	hsa-miR-4522	CLIP-seq
MIRT852065	hsa-miR-4684-5p	CLIP-seq
MIRT2494581	hsa-miR-4695-5p	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT2494582	hsa-miR-4768-3p	CLIP-seq
MIRT852069	hsa-miR-520g	CLIP-seq
MIRT852070	hsa-miR-520h	CLIP-seq
MIRT2494583	hsa-miR-544b	CLIP-seq
MIRT852071	hsa-miR-548ah	CLIP-seq
MIRT852072	hsa-miR-548c-3p	CLIP-seq
MIRT852073	hsa-miR-585	CLIP-seq
MIRT852075	hsa-miR-612	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852078	hsa-miR-661	CLIP-seq
MIRT852079	hsa-miR-663	CLIP-seq
MIRT852080	hsa-miR-665	CLIP-seq
MIRT852081	hsa-miR-766	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq
MIRT2677085	hsa-miR-1179	CLIP-seq
MIRT2445841	hsa-miR-1245b-5p	CLIP-seq
MIRT852029	hsa-miR-1268	CLIP-seq
MIRT852030	hsa-miR-1268b	CLIP-seq
MIRT852031	hsa-miR-1285	CLIP-seq
MIRT1952763	hsa-miR-140-3p	CLIP-seq
MIRT2677086	hsa-miR-186	CLIP-seq
MIRT852033	hsa-miR-1908	CLIP-seq
MIRT852037	hsa-miR-3065-5p	CLIP-seq
MIRT852038	hsa-miR-3122	CLIP-seq
MIRT2445842	hsa-miR-3140-5p	CLIP-seq
MIRT2445843	hsa-miR-3142	CLIP-seq
MIRT852041	hsa-miR-3187-5p	CLIP-seq
MIRT2677087	hsa-miR-337-3p	CLIP-seq
MIRT2190543	hsa-miR-3607-3p	CLIP-seq
MIRT852044	hsa-miR-3609	CLIP-seq
MIRT2445844	hsa-miR-3662	CLIP-seq
MIRT852046	hsa-miR-3675-3p	CLIP-seq
MIRT2190544	hsa-miR-3686	CLIP-seq
MIRT852047	hsa-miR-3689a-3p	CLIP-seq
MIRT852048	hsa-miR-3689c	CLIP-seq
MIRT852049	hsa-miR-3714	CLIP-seq
MIRT852053	hsa-miR-3913-5p	CLIP-seq
MIRT852055	hsa-miR-3937	CLIP-seq
MIRT852056	hsa-miR-4286	CLIP-seq
MIRT2494579	hsa-miR-4433	CLIP-seq
MIRT2494580	hsa-miR-4459	CLIP-seq
MIRT852060	hsa-miR-4486	CLIP-seq
MIRT852065	hsa-miR-4684-5p	CLIP-seq
MIRT852066	hsa-miR-4728-5p	CLIP-seq
MIRT2494582	hsa-miR-4768-3p	CLIP-seq
MIRT2445845	hsa-miR-4790-3p	CLIP-seq
MIRT852069	hsa-miR-520g	CLIP-seq
MIRT852070	hsa-miR-520h	CLIP-seq
MIRT2494583	hsa-miR-544b	CLIP-seq
MIRT852071	hsa-miR-548ah	CLIP-seq
MIRT852072	hsa-miR-548c-3p	CLIP-seq
MIRT852073	hsa-miR-585	CLIP-seq
MIRT852075	hsa-miR-612	CLIP-seq
MIRT852077	hsa-miR-654-3p	CLIP-seq
MIRT852078	hsa-miR-661	CLIP-seq
MIRT852079	hsa-miR-663	CLIP-seq
MIRT852081	hsa-miR-766	CLIP-seq
MIRT852083	hsa-miR-940	CLIP-seq

Show/Hide all(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
GO:0005579	Component	Membrane attack complex	IEA
GO:0005579	Component	Membrane attack complex	IPI	30552328
GO:0005579	Component	Membrane attack complex	TAS	3335508
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	NAS	30552328
GO:0006955	Process	Immune response	IEA
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	26841837, 27052168, 32569291
GO:0006956	Process	Complement activation	TAS	3335508
GO:0006957	Process	Complement activation, alternative pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0044218	Component	Other organism cell membrane	IDA	27052168, 32569291
GO:0044218	Component	Other organism cell membrane	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0050778	Process	Positive regulation of immune response	NAS	30552328
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:1902495	Component	Transmembrane transporter complex	IDA	30552328

MIM	HGNC	e!Ensembl
217070	1346	ENSG00000112936

Protein

UniProt ID

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
QPCVGNAFETQSCEPTRGCPTEEGCGERFRCFSGQCISKSLVCNGDSDCDEDSADEDRCE
DSERRPSCDIDKPPPNIELTGNGYNELTGQFRNRVINTKSFGGQCRKVFSGDGKDFYRLS
GNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSSSRKRSFFRSSSSSSRSYTSHTN
EIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPFWKELSHLPSLYDYSAYRRLIDQYG
THYLQSGSLGGEYRVLFYVDSEKLKQNDFNSVEEKKCKSSGWHFVVKFSSHGCKELENAL
KAASGTQNNVLRGEPFIRGGGAGFISGLSYLELDNPAGNKRRYSAWAESVTNLPQVIKQK
LTPLYELVKEVPCASVKKLYLKWALEEYLDEFDPCHCRPCQNGGLATVEGTHCLCHCKPY
TFGAACEQGVLVGNQAGGVDGGWSCWSSWSPCVQGKKTRSRECNNPPPSGGGRSCVGETT
ESTQCEDEELEHLRLLEPHCFPLSLVPTEFCPSPPALKDGFVQDEGTMFPVGKNVVYTCN
EGYSLIGNPVARCGEDLRWLVGEMHCQKIACVLPVLMDGIQSHPQKPFYTVGEKVTVSCS
GGMSLEGPSAFLCGSSLKWSPEMKNARCVQKENPLTQAVPKCQRWEKLQNSRCVCKMPYE
CGPSLDVCAQDERSKRILPLTVCKMHVLHCQGRNYTLTGRDSCTLPASAEKACGACPLWG
KCDAESSKCVCREASECEEEGFSICVEVNGKEQTMSECEAGALRCRGQSISVTSIRPCAA
ETQ

Sequence length

843

Interactions

View interactions

	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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Complement Component Deficiency	complement component 7 deficiency	rs1579848888, rs779723422, rs770367814, rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs531103546, rs764871530, rs139491301	N/A

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Bacterial Infections	Associate	27063552
Carcinoma Hepatocellular	Associate	31341412, 33964921
Cholangiocarcinoma	Associate	35589822
Fibrosis	Stimulate	31860081
Glaucoma Open Angle	Associate	23536807
Liver Failure	Associate	31860081
Meningococcal Infections	Associate	8774358
Neoplasms	Inhibit	27852032
Non alcoholic Fatty Liver Disease	Stimulate	31860081
Otitis Media	Associate	8774358
Pre Eclampsia	Stimulate	24296084
Retinal Vein Occlusion	Associate	36820679
Stomach Neoplasms	Associate	35111412

C7 (complement C7)