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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	729
Gene name	Complement C6
Gene symbol	C6
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5p13.1
Summary	This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 def

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SNP ID	Visualize variation	Clinical significance	Consequence
rs398122811	G>-	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant

143

Show/Hide all (143)

miRTarBase ID	miRNA	Experiments	Reference
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619771	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT619771	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT615759	hsa-miR-4310	HITS-CLIP	23824327
MIRT615758	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615757	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615756	hsa-miR-5193	HITS-CLIP	23824327
MIRT615755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT615754	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT615753	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT615752	hsa-miR-4291	HITS-CLIP	23824327
MIRT615751	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT615750	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT615749	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619771	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT615759	hsa-miR-4310	HITS-CLIP	23824327
MIRT615758	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615757	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615756	hsa-miR-5193	HITS-CLIP	23824327
MIRT615755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT615754	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT615753	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT615752	hsa-miR-4291	HITS-CLIP	23824327
MIRT615751	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT615750	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT615749	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT615759	hsa-miR-4310	HITS-CLIP	23824327
MIRT615758	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615757	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615756	hsa-miR-5193	HITS-CLIP	23824327
MIRT615755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT615754	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT615753	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT615752	hsa-miR-4291	HITS-CLIP	23824327
MIRT615751	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT615750	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT615749	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619771	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT619771	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT615759	hsa-miR-4310	HITS-CLIP	23824327
MIRT615758	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615757	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615756	hsa-miR-5193	HITS-CLIP	23824327
MIRT615755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT615754	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT615753	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT615752	hsa-miR-4291	HITS-CLIP	23824327
MIRT615751	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT615750	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT615749	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT619774	hsa-miR-8485	HITS-CLIP	23824327
MIRT619773	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT619772	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT619771	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT619770	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT619769	hsa-miR-4539	HITS-CLIP	23824327
MIRT619768	hsa-miR-6800-5p	HITS-CLIP	23824327
MIRT615759	hsa-miR-4310	HITS-CLIP	23824327
MIRT615758	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615757	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615756	hsa-miR-5193	HITS-CLIP	23824327
MIRT615755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT615754	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT615753	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT615752	hsa-miR-4291	HITS-CLIP	23824327
MIRT615751	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT615750	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT615749	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT615759	hsa-miR-4310	HITS-CLIP	23824327
MIRT615758	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT615757	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT615756	hsa-miR-5193	HITS-CLIP	23824327
MIRT615755	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT615754	hsa-miR-6511a-3p	HITS-CLIP	23824327
MIRT615753	hsa-miR-6511b-3p	HITS-CLIP	23824327
MIRT615752	hsa-miR-4291	HITS-CLIP	23824327
MIRT615751	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT615750	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT615749	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT850265	hsa-miR-4768-3p	CLIP-seq
MIRT850266	hsa-miR-1266	CLIP-seq
MIRT850267	hsa-miR-133a	CLIP-seq
MIRT850268	hsa-miR-133b	CLIP-seq
MIRT850269	hsa-miR-224	CLIP-seq
MIRT850270	hsa-miR-23a	CLIP-seq
MIRT850271	hsa-miR-23b	CLIP-seq
MIRT850272	hsa-miR-23c	CLIP-seq
MIRT850273	hsa-miR-3664-3p	CLIP-seq
MIRT850274	hsa-miR-4436a	CLIP-seq
MIRT850275	hsa-miR-4512	CLIP-seq
MIRT850276	hsa-miR-4518	CLIP-seq
MIRT850277	hsa-miR-9	CLIP-seq
MIRT850269	hsa-miR-224	CLIP-seq
MIRT850270	hsa-miR-23a	CLIP-seq
MIRT850271	hsa-miR-23b	CLIP-seq
MIRT850272	hsa-miR-23c	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	17474147
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: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	2808363, 26841837, 27052168, 32569291
GO:0006956	Process	Complement activation	TAS	2808363
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
217050	1339	ENSG00000039537

P13671

Protein name

Complement component C6

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:22267737, PubM

PDB

3T5O , 4A5W , 4E0S , 6H03 , 6H04 , 7NYC , 7NYD , 7Q6C , 8B0F , 8B0G , 8B0H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00090	TSP_1	28 → 78	Thrombospondin type 1 domain	Domain
PF00090	TSP_1	85 → 133	Thrombospondin type 1 domain	Domain
PF00057	Ldl_recept_a	138 → 173	Low-density lipoprotein receptor domain class A	Repeat
PF01823	MACPF	291 → 514	MAC/Perforin domain	Domain
PF00090	TSP_1	566 → 615	Thrombospondin type 1 domain	Domain
PF00084	Sushi	644 → 699	Sushi repeat (SCR repeat)	Domain
PF00084	Sushi	705 → 761	Sushi repeat (SCR repeat)	Domain

Sequence

MARRSVLYFILLNALINKGQACFCDHYAWTQWTSCSKTCNSGTQSRHRQIVVDKYYQENF
CEQICSKQETRECNWQRCPINCLLGDFGPWSDCDPCIEKQSKVRSVLRPSQFGGQPCTAP
LVAFQPCIPSKLCKIEEADCKNKFRCDSGRCIARKLECNGENDCGDNSDERDCGRTKAVC
TRKYNPIPSVQLMGNGFHFLAGEPRGEVLDNSFTGGICKTVKSSRTSNPYRVPANLENVG
FEVQTAEDDLKTDFYKDLTSLGHNENQQGSFSSQGGSSFSVPIFYSSKRSENINHNSAFK
QAIQASHKKDSSFIRIHKVMKVLNFTTKAKDLHLSDVFLKALNHLPLEYNSALYSRIFDD
FGTHYFTSGSLGGVYDLLYQFSSEELKNSGLTEEEAKHCVRIETKKRVLFAKKTKVEHRC
TTNKLSEKHEGSFIQGAEKSISLIRGGRSEYGAALAWEKGSSGLEEKTFSEWLESVKENP
AVIDFELAPIVDLVRNIPCAVTKRNNLRKALQEYAAKFDPCQCAPCPNNGRPTLSGTECL
CVCQSGTYGENCEKQSPDYKSNAVDGQWGCWSSWSTCDATYKRSRTRECNNPAPQRGGKR
CEGEKRQEEDCTFSIMENNGQPCINDDEEMKEVDLPEIEADSGCPQPVPPENGFIRNEKQ
LYLVGEDVEISCLTGFETVGYQYFRCLPDGTWRQGDVECQRTECIKPVVQEVLTITPFQR
LYRIGESIELTCPKGFVVAGPSRYTCQGNSWTPPISNSLTCEKDTLTKLKGHCQLGQKQS
GSECICMSPEEDCSHHSEDLCVFDTDSNDYFTSPACKFLAEKCLNNQQLHFLHIGSCQDG
RQLEWGLERTRLSSNSTKKESCGYDTCYDWEKCSASTSKCVCLLPPQCFKGGNQLYCVKM
GSSTSEKTLNICEVGTIRCANRKMEILHPGKCLA

Sequence length

934

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

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
C6-related disorder	Likely pathogenic; Pathogenic	rs950033293, rs2478412286, rs61469168, rs867425110, rs375762365, rs557023458	RCV003418955 RCV003899156 RCV003403415 RCV003906120 RCV004754723 RCV003923395 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Complement component 6 deficiency	Likely pathogenic; Pathogenic	rs779825789, rs1329836511, rs749432203, rs771792933, rs1432520854, rs199946957, rs142881576, rs372345940, rs199930769, rs894782145, rs191386155, rs2478052485, rs398122811, rs61469168, rs867425110, rs375762365, rs557023458 View all (2 more)	RCV005645767 RCV001334187 RCV001780701 RCV002503383 RCV002208783 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency due to a late component of complement deficiency	Pathogenic	rs61469168	RCV000991161	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
C6 A/B POLYMORPHISM	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C6 deficiency, subtotal	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE PROLAPSE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERMINAL COMPONENT DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

C6 (complement C6)