1. Gene
  2. C6 - complement C6 Gene

C6 - complement C6 Gene

Homo sapiens
Gene ID: 729 | Gene type: protein coding

About C6

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:41,142,116-41,261,469 (from NCBI)

This gene has 9 transcripts (splice variants), 206 orthologues, 39 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues.

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 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

C6 Products(2)

mRNA Protein Name
NM_000065.5 NP_000056.2 complement component C6 precursor
NM_001115131.4 NP_001108603.2 complement component C6 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Biological Process GO Annotation Evidence Reference Source
involved in complement activation IDA
IDA: Inferred from direct assay
2808363 GOA
Cellular Component GO Annotation Evidence Reference Source
part of membrane attack complex IDA
IDA: Inferred from direct assay
22832194 GOA
part of membrane attack complex IPI
IPI: Inferred from physical interaction
30552328 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C6 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (28 - 78)

TSP_1

TSP_1: Thrombospondin type 1 domain (86 - 133)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (140 - 173)

MACPF

MACPF: MAC/Perforin domain (293 - 514)

TSP_1

TSP_1: Thrombospondin type 1 domain (571 - 612)

Sushi

Sushi: Sushi repeat (SCR repeat) (644 - 695)

Sushi

Sushi: Sushi repeat (SCR repeat) (713 - 754)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (793 - 837)

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  • 934 a.a.
Protein Preferred Names Protein Names

complement component C6

complement component 6

Recombinant C6 Proteins

Cat. No. Product Name Accession Purity
HY-P74373 C6/Complement component C6 Protein, Human (HEK293, His) AAA59668 (C22-A934) ≥95%

Related Diseases

Diseases Alias
Complement Component 6 Deficiency

C6 Deficiency

C6D

C6 Deficiency Subtotal

Complement Component 6 Deficiency Subtotal

C6 Deficiency, Subtotal

Immunodeficiency Due To A Late Component Of Complement Deficiency

Immunodeficiency Due To C5 To C9 Component Complement Deficiency

Terminal Complement Pathway Deficiency

Meningococcal Meningitis

Meningitis, Meningococcal

Meningitis Meningococcal

Epidemic Meningitis

Meningitis Due To Neisseria Meningitidis

Meningococcal Meninges Infection

Meningococcal Meningeal Infection

Meningococcal Cerebrospinal Inflammation

Chronic Meningococcal Arachnoiditis

Meningococcal Arachnoiditis

Diplococcal Spinal Meningitis

Diplococcal Meningitis

Meningococcal Cerebrospinal Fever

Meningococcal Cerebrospinal Infection

Meningococcal Spinal Meningitis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus C6 VGNC VGNC:52722
Felis catus C6 VGNC VGNC:60233
Rattus norvegicus C6 RGD RGD:2238
Canis familiaris C6 VGNC VGNC:38598
Macaca mulatta C6 VGNC VGNC:70477
Mus musculus C6 MGD MGI:88233
Macaca fascicularis C6 NCBI NCBI:102116032
Others C6 NCBI