C6 (complement C6)

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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs398122811 G>- Pathogenic Intron variant, genic upstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
217050 1339 ENSG00000039537
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Complement Component Deficiency complement component 6 deficiency rs372345940, rs398122811, rs142881576, rs61469168, rs867425110 N/A
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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