1. Gene
  2. C9 - complement C9 Gene

C9 - complement C9 Gene

Homo sapiens

Also known as C9D; ARMD15

Gene ID: 735 | Gene type: protein coding

About C9

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:39,284,140-39,364,495 (from NCBI)

This gene has 7 transcripts (splice variants), 190 orthologues, 39 paralogues and is associated with 4 phenotypes. Restricted expression toward liver (RPKM 365.0).

Summary

This gene encodes the final component of the Complement System. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on Bacterial membranes to form a pore, permitting disruption of Bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

C9 Products(1)

mRNA Protein Name
NM_001737.5 NP_001728.1 complement component C9 preproprotein
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell killing IDA
IDA: Inferred from direct assay
26841934 GOA
involved in protein homooligomerization IDA
IDA: Inferred from direct assay
26841934 GOA
Cellular Component GO Annotation Evidence Reference Source
located in extracellular space IDA
IDA: Inferred from direct assay
22832194 GOA
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
located in plasma membrane IDA
IDA: Inferred from direct assay
26841934 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

C9 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (46 - 94)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (100 - 134)

MACPF

MACPF: MAC/Perforin domain (272 - 501)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 559 a.a.
Protein Preferred Names Protein Names

complement component C9

complement component 9

Related Diseases

Diseases Alias
Complement Component 9 Deficiency

C9 Deficiency

C9D

C9 Deficiency With Dermatomyositis

Macular Degeneration, Age-Related, 15

Age Related Macular Degeneration 15

ARMD15

Macular Degeneration, Age-Related, 15, Susceptibility To

Macular Degeneration, Age-Related, Type 15

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

Immunoglobulin Heavy-And-Light Chain

Ah/Al Amyloidosis

Ig Heavy-And-Light-Chain Amyloidosis

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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
Mus musculus C9 MGD MGI:1098282
Felis catus C9 VGNC VGNC:60238
Macaca mulatta C9 VGNC VGNC:70482
Rattus norvegicus C9 RGD RGD:620319
Bos taurus C9 VGNC VGNC:26647
Canis familiaris C9 VGNC VGNC:38603
Macaca fascicularis C9 NCBI NCBI:102137382
Others C9 NCBI