C9 Gene (Protein Coding)

Complement C9

GC05M039320
GIFtS:
45
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] See more...

Aliases for C9 Gene

Aliases for C9 Gene

  • Complement C9 2 3 5
  • Complement Component C9 3 4
  • Complement Component 9 2 3
  • ARMD15 3
  • C9D 3
  • C9 5

External Ids for C9 Gene

Previous GeneCards Identifiers for C9 Gene

  • GC05M039463
  • GC05M040377
  • GC05M039284
  • GC05M039330

Summaries for C9 Gene

Entrez Gene Summary for C9 Gene

  • 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]

GeneCards Summary for C9 Gene

C9 (Complement C9) is a Protein Coding gene. Diseases associated with C9 include Complement Component 9 Deficiency and Macular Degeneration, Age-Related, 15. Among its related pathways are Complement and coagulation cascades and Innate Immune System. An important paralog of this gene is C8A.

UniProtKB/Swiss-Prot Summary for C9 Gene

  • Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934, PubMed:30111885).

Additional gene information for C9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C9 Gene

Genomics for C9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for C9 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH05J039418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.6 1584 9.8 TBP ZBTB10 MNT IKZF1 SMAD5 MBD2 CTCF BHLHE40 ZEB1 NONO DAB2 C9 RF00017-4590 lnc-OSMR-3 HSALNG0041319 lnc-C9-1 FYB1
GH05J039364 Promoter/Enhancer 1 EPDnew Ensembl 250.2 +60.4 60367 0.2 RXRA FOXA2 ZBTB33 JUND HNF4A FOXA1 RAD21 REST MAX SP1 C9 DAB2 piR-30048-028 piR-55650-531 FYB1 lnc-C9-1 HSALNG0041311
GH05J039268 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 14.7 +152.4 152405 6.9 IRF2 POLR2A GABPA FOSL1 SPI1 ATF1 ELF1 ZBTB33 REST IKZF1 FYB1 piR-31162-392 piR-45471-478 piR-61029-121 piR-55650-530 C9 RICTOR DAB2 lnc-C9-2 HSALNG0041311
GH05J039516 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -94.0 -93985 4.9 FEZF1 CEBPA CEBPB MAX EP300 GABPA PRDM1 RAD21 RFX5 ZNF146 LINC02104 DAB2 C9 lnc-DAB2-1 HSALNG0041324
GH05J039394 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +26.1 26054 9.2 CEBPA DEK IKZF1 MBD2 BRCA1 KDM6A CEBPB ARNT ZNF395 GTF2E2 C9 DAB2 HSALNG0041319 HSALNG0041318 lnc-C9-1 FYB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C9

Top Transcription factor binding sites by QIAGEN in the C9 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • CBF(2)
  • Elk-1
  • GATA-1
  • GATA-2
  • GATA-3
  • NF-Y

Genomic Locations for C9 Gene

Latest Assembly
chr5:39,284,140-39,424,868
(GRCh38/hg38)
Size:
140,729 bases
Orientation:
Minus strand

Previous Assembly
chr5:39,284,242-39,364,597
(GRCh37/hg19 by Entrez Gene)
Size:
80,356 bases
Orientation:
Minus strand

chr5:39,284,364-39,424,970
(GRCh37/hg19 by Ensembl)
Size:
140,607 bases
Orientation:
Minus strand

Genomic View for C9 Gene

Genes around C9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for C9 Gene

Proteins for C9 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for C9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02748-CO9_HUMAN
    Recommended name:
    Complement component C9
    Protein Accession:
    P02748

    Protein attributes for C9 Gene

    Size:
    559 amino acids
    Molecular mass:
    63173 Da
    Quaternary structure:
    • Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9 (PubMed:22832194). About 20 C9 chains oligomerize to give rise to a huge beta-barrel that forms a 100 Angstrom diameter pore in target membranes (PubMed:26841934, PubMed:30111885).

    Three dimensional structures from OCA and Proteopedia for C9 Gene

neXtProt entry for C9 Gene

Protein Expression for C9 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for C9 Gene

  • Thrombin cleaves factor C9 to produce C9a and C9b.
  • Phosphorylation sites are present in the extracellular medium.
  • Initially, positions and connectivity of disulfide bonds were based on peptide sequencing done for the human protein (PubMed:8603752). The crystal structures for the human and mouse proteins corrected the positions and connectivities of the disulfide bonds (PubMed:30111885). The distance between Cys-57 and Cys-94 in the monomeric mouse protein precludes formation of a disulfide bond, contrary to what is seen in the structure of the human polymeric form of the protein (Probable).
  • Glycosylation at Trp48, Trp51, Asn277, and Asn415
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for C9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Invitrogen Antibodies for C9 (AFLGC-C9)

No data available for DME Specific Peptides for C9 Gene

Domains & Families for C9 Gene

Gene Families for C9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for C9 Gene

InterPro:
Blocks:
  • Thrombospondin, type I
  • Low density lipoprotein-receptor, class A
  • Membrane attack complex component/perforin/complement C9
ProtoNet:

Suggested Antigen Peptide Sequences for C9 Gene

GenScript: Design optimal peptide antigens:
  • Complement component C9 (CO9_HUMAN)
  • Complement component 9 (Q9UGI4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02748

UniProtKB/Swiss-Prot:

CO9_HUMAN :
  • Belongs to the complement C6/C7/C8/C9 family.
Family:
  • Belongs to the complement C6/C7/C8/C9 family.
genes like me logo Genes that share domains with C9: view

Function for C9 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for C9 Gene

UniProtKB/Swiss-Prot Function:
Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells (PubMed:9634479, PubMed:9212048, PubMed:26841934). C9 is the pore-forming subunit of the MAC (PubMed:4055801, PubMed:26841934, PubMed:30111885).
GENATLAS Biochemistry:
complement component 9,alpha-2 globulin 4.S,forming transmembrane channels,highly homologous to perforin,complexing with other late components of the cascade to form the membrane attack complex

Phenotypes From GWAS Catalog for C9 Gene

Gene Ontology (GO) - Molecular Function for C9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with C9: view
genes like me logo Genes that share phenotypes with C9: view

Human Phenotype Ontology for C9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C9 Gene

MGI Knock Outs for C9:
  • C9 C9<tm1.1(KOMP)Vlcg>

Animal Models for research

  • Taconic Biosciences Mouse Models for C9

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for C9 Gene

Localization for C9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9 Gene

Secreted. Target cell membrane. Multi-pass membrane protein. Note=Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore. {ECO:0000269 PubMed:26841934, ECO:0000269 PubMed:30111885, ECO:0000269 PubMed:4055801, ECO:0000269 PubMed:9634479}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C9 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for C9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IDA 22832194
GO:0005615 extracellular space IDA 22832194
GO:0005886 plasma membrane IDA 26841934
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with C9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C9 Gene

Pathways & Interactions for C9 Gene

PathCards logo

SuperPathways for C9 Gene

SuperPathway Contained pathways
1 Immune response Lectin induced complement pathway
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
Immune response Classical complement pathway
.55
Regulation of Complement cascade
.51
Complement Activation Pathways
.31
2 Complement Pathway
Complement Pathway
.62
Complement Activation
.62
Alternative Complement Pathway
.01
Classical Complement Pathway
.01
Lectin Induced Complement Pathway
.01
3 Complement and coagulation cascades
Complement and coagulation cascades
.65
Complement and Coagulation Cascades
.65
4 Creation of C4 and C2 activators
Complement cascade
.57
Terminal pathway of complement
.01
5 Innate Immune System
Immune System
.61
Innate Immune System
.61
genes like me logo Genes that share pathways with C9: view

Pathways by source for C9 Gene

1 Sino Biological pathway for C9 Gene
3 GeneGo (Thomson Reuters) pathways for C9 Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
4 Qiagen pathways for C9 Gene
  • Alternative Complement Pathway
  • Classical Complement Pathway
  • Complement Pathway
  • Lectin Induced Complement Pathway

Gene Ontology (GO) - Biological Process for C9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001906 cell killing IDA 26841934
GO:0002376 immune system process IEA --
GO:0006955 immune response IEA --
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
genes like me logo Genes that share ontologies with C9: view

No data available for SIGNOR curated interactions for C9 Gene

Drugs & Compounds for C9 Gene

Products:

  1. Drug products for research

(1) Drugs for C9 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 271
genes like me logo Genes that share compounds with C9: view

Transcripts for C9 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for C9 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for C9 Gene

No ASD Table

Relevant External Links for C9 Gene

GeneLoc Exon Structure for
C9

Expression for C9 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C9 Gene

mRNA expression in normal human tissues for C9 Gene
mRNA expression by GTEx for C9 GenemRNA expression by BioGPS for C9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for C9 Gene

This gene is overexpressed in Liver (x52.6).

Protein differential expression in normal tissues from HIPED for C9 Gene

This gene is overexpressed in Synovial fluid (19.3), Serum (11.5), and Plasma (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C9 Gene



Protein tissue co-expression partners for C9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C9

SOURCE GeneReport for Unigene cluster for C9 Gene:

Hs.654443

mRNA Expression by UniProt/SwissProt for C9 Gene:

P02748-CO9_HUMAN
Tissue specificity: Plasma (at protein level).

Evidence on tissue expression from TISSUES for C9 Gene

  • Liver(4.9)
  • Blood(4.4)
  • Bone marrow(4.2)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • prostate
  • rectum
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • lymph node
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with C9: view

Primer products for research

Orthologs for C9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia C9 30 31
  • 99.4 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia C9 30 31
  • 79.72 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia C9 30 31
  • 77.72 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia C9 30
  • 76 (n)
Mouse
(Mus musculus)
 Mammalia C9 30 17 31
  • 72.4 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia C9 31
  • 55 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia C9 31
  • 55 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia C9 31
  • 43 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia c9 30
  • 55.49 (n)
Str.6221 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC64276 30
Zebrafish
(Danio rerio)
 Actinopterygii c9 31
  • 32 (a)
 OneToOne
-- 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 ManyToMany
-- 31
  • 29 (a)
 ManyToMany
-- 31
  • 27 (a)
 ManyToMany
-- 31
  • 27 (a)
 ManyToMany
-- 31
  • 25 (a)
 ManyToMany
-- 31
  • 23 (a)
 ManyToMany
Species where no ortholog for C9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C9 Gene

ENSEMBL:
Gene Tree for C9 (if available)
TreeFam:
Gene Tree for C9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C9: view image

Paralogs for C9 Gene

Paralogs for C9 Gene

(2) SIMAP similar genes for C9 Gene using alignment to 2 proteins:

  • CO9_HUMAN
  • Q9UGI4_HUMAN
genes like me logo Genes that share paralogs with C9: view

Variants for C9 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C9 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
973622 Pathogenic: Complement component 9 deficiency 39,341,247(-) G/T
NM_001737.5(C9):c.375C>A (p.Cys125Ter) 		NONSENSE
rs115196369 Likely Benign: not provided 39,341,646(-) C/T
NM_001737.5(C9):c.238G>A (p.Asp80Asn) 		MISSENSE
rs121909592 Pathogenic: Complement component 9 deficiency 39,341,276(-) G/A
NM_001737.5(C9):c.346C>T (p.Arg116Ter) 		NONSENSE
rs121909593 Uncertain Significance: Complement component 9 deficiency; Macular degeneration, age-related, 15. Complement component 9 deficiency (C9D) [MIM:613825] 39,341,267(-) A/Cp.Cys119Gly
NM_001737.5(C9):c.355T>G (p.Cys119Gly) 		MISSENSE
rs121909594 Pathogenic: Complement component 9 deficiency 39,306,753(-) G/C
NM_001737.5(C9):c.1280C>G (p.Ser427Ter) 		NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C9 Gene

Variant ID Type Subtype PubMed ID
esv1241962 CNV insertion 17803354
esv2669707 CNV deletion 23128226
esv3326122 CNV insertion 20981092
esv3389789 CNV insertion 20981092
esv3443404 CNV insertion 20981092
esv3604783 CNV gain 21293372
esv3604786 CNV loss 21293372
esv3604787 CNV loss 21293372
nsv516263 CNV loss 19592680
nsv597860 CNV gain 21841781

Variation tolerance for C9 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9 Gene

Human Gene Mutation Database (HGMD)
C9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9 Gene

Disorders for C9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for C9 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
complement component 9 deficiency
  • c9d
macular degeneration, age-related, 15
  • armd15
immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to c5 to c9 component complement deficiency
meningococcal meningitis
  • meningitis, meningococcal
eye disease
  • abnormality of the eye
- elite association - COSMIC cancer census association via MalaCards
Search C9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO9_HUMAN
  • Complement component 9 deficiency (C9D) [MIM:613825]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. {ECO:0000269 PubMed:9634479}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Macular degeneration, age-related, 15 (ARMD15) [MIM:615591]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:24036952}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Genatlas disease for C9 Gene

C9 deficiency with rare episodes of neisserial or meningococcal meningitis

Additional Disease Information for C9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C9: view

Publications for C9 Gene

  1. Founder effect of the C9 R95X mutation in Orientals. (PMID: 12596049) Khajoee V … Hara T (Human genetics 2003) 3 23 74
  2. Heterogeneity in the genetic basis of human complement C9 deficiency. (PMID: 9634479) Witzel-Schlömp K … Schneider PM (Immunogenetics 1998) 3 4 74
  3. A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. (PMID: 9570574) Horiuchi T … Fukumori Y (Journal of immunology (Baltimore, Md. : 1950) 1998) 3 23 74
  4. The first transmembrane region of complement component-9 acts as a brake on its self-assembly. (PMID: 30111885) Spicer BA … Dunstone MA (Nature communications 2018) 3 4
  5. Structure of the poly-C9 component of the complement membrane attack complex. (PMID: 26841934) Dudkina NV … Dunstone MA (Nature communications 2016) 3 4

ExternalLinks

View latest publications for C9 gene in Mastermind

Products for C9 Gene

  • Invitrogen Antibodies for C9 (AFLGC-C9)

Sources for C9 Gene