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.	729
Gene name Gene Name - the full gene name approved by the HGNC.	Complement C6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	C6
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 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

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(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005576	Component	Extracellular region	TAS
GO:0005579	Component	Membrane attack complex	IDA	22832194
GO:0006956	Process	Complement activation	TAS	2808363
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0019835	Process	Cytolysis	IEA
GO:0030449	Process	Regulation of complement activation	TAS
GO:0045087	Process	Innate immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
217050	1339	ENSG00000039537

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Complement component deficiency	Complement Component 6 Deficiency, Complement deficiency disease	rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592 View all (29 more)	12653841, 8690922, 9856498, 22288589, 9472666
Immunodeficiency	Immunodeficiency due to a late component of complement deficiency	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866 View all (256 more)
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841 View all (4 more)	21335463

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Complement Component Deficiency	complement component 6 deficiency			GenCC

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
Complement Component 6 Deficiency	Associate	10632667
Coronary Artery Disease	Associate	25249547
COVID 19	Associate	36334414
Death	Associate	36334414
Dementia	Associate	36334414
Vascular Diseases	Associate	36334414

C6 (complement C6)