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C9 Gene(Protein Coding)

Complement C9

GCID:
GC05M039320
GIFtS:
54
Genes Participants
UDN Logo

Aliases for C9 Gene

Aliases for C9 Gene

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

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 Creation of C4 and C2 activators and Complement and coagulation cascades. An important paralog of this gene is C8A.

UniProtKB/Swiss-Prot 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).

Additional gene information for C9 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9 Gene

Genomics for C9 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for C9 Gene

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
GH05I039418 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.6 1584 9.8 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF143 SP3 SP5 DAB2 C9 FYB1
GH05I039364 Promoter 0.9 EPDnew 550.2 +60.4 60353 0.1 RXRA TAF1 MAX REST RAD21 FOXA1 GABPA YY1 JUND ATF3 C9 DAB2 FYB1
GH05I039185 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +229.4 229353 20.7 HDGF PKNOX1 SMAD1 FOXA2 ARNT YBX1 ZNF766 E2F8 FOS REST FYB1 C9 DAB2 RICTOR GC05P039191
GH05I039268 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 14.6 +155.2 155167 2.6 ATF1 POLR2A REST SPI1 FYB1 C9 RICTOR DAB2 GC05P039191
GH05I039394 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 +26.1 26054 9.2 ATF1 ARNT ZFP64 SIN3A BRCA1 TCF12 ZNF766 ATF7 FOS DEK RICTOR C9 DAB2 FYB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C9 gene promoter:

Genomic Locations for C9 Gene

Genomic Locations for C9 Gene
chr5:39,284,262-39,424,868
(GRCh38/hg38)
Size:
140,607 bases
Orientation:
Minus strand
chr5:39,284,364-39,424,970
(GRCh37/hg19)

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. Antibody
  2. Protein
  3. Assay

  • 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).

    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

  • Phosphorylation sites are present in the extracellular medium.
  • Thrombin cleaves factor C9 to produce C9a and C9b.
  • Glycosylation at posLast=4848, posLast=5151, posLast=277277, and Asn415
  • Modification sites at PhosphoSitePlus

Other Protein References for C9 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for C9 Gene

GenScript: Design optimal peptide antigens:

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 Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for C9 Gene

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
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).

Phenotypes From GWAS Catalog for C9 Gene

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 tm1.1(KOMP)Vlcg

Animal Model Products

  • Taconic Biosciences Mouse Models for C9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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: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 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

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:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA 26841934
genes like me logo Genes that share ontologies with C9: view

Pathways & Interactions for C9 Gene

genes like me logo Genes that share pathways with C9: view

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

(1) Drugs for C9 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
genes like me logo Genes that share compounds with C9: view

Transcripts for C9 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for C9 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(80) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C9 Gene

Complement component 9:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for C9 Gene

GeneLoc Exon Structure for
C9
ECgene alternative splicing isoforms for
C9

Expression for C9 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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 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, PaxDb, MaxQB, and MOPED for C9 Gene



Protein tissue co-expression partners for C9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C9 Gene:

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(4.8)
  • Blood(4.3)
  • Bone marrow(4.1)

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for C9 Gene

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 33 34
  • 99.4 (n)
dog
(Canis familiaris)
 Mammalia C9 33 34
  • 79.72 (n)
cow
(Bos Taurus)
 Mammalia C9 33 34
  • 77.72 (n)
rat
(Rattus norvegicus)
 Mammalia C9 33
  • 76 (n)
mouse
(Mus musculus)
 Mammalia C9 33 16 34
  • 72.4 (n)
oppossum
(Monodelphis domestica)
 Mammalia C9 34
  • 55 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia C9 34
  • 55 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia C9 34
  • 43 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia c9 33
  • 55.49 (n)
Str.6221 33
African clawed frog
(Xenopus laevis)
 Amphibia MGC64276 33
zebrafish
(Danio rerio)
 Actinopterygii c9 34
  • 32 (a)
 OneToOne
-- 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 29 (a)
 ManyToMany
-- 34
  • 29 (a)
 ManyToMany
-- 34
  • 27 (a)
 ManyToMany
-- 34
  • 27 (a)
 ManyToMany
-- 34
  • 25 (a)
 ManyToMany
-- 34
  • 23 (a)
 ManyToMany
Species where no ortholog for C9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for C9 Gene

Paralogs for C9 Gene

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

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

Variants for C9 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for C9 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs121909592 pathogenic, Complement component 9 deficiency 39,341,276(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs121909593 pathogenic, Complement component 9 deficiency, Complement component 9 deficiency (C9D) [MIM:613825] 39,341,267(-) A/C coding_sequence_variant, missense_variant
rs121909594 pathogenic, Complement component 9 deficiency 39,306,753(-) G/C coding_sequence_variant, stop_gained
rs34000044 conflicting-interpretations-of-pathogenicity, pathogenic, Complement component 9 deficiency, not provided 39,342,112(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs34882957 risk-factor, Macular degeneration, age-related, 15, Macular degeneration, age-related, 15 (ARMD15) [MIM:615591] 39,331,792(-) G/A coding_sequence_variant, missense_variant

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 Assay Products

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

Disorders for C9 Gene

MalaCards: The human disease database

(6) MalaCards diseases for C9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 variations 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 variations 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 of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C9: view

Publications for C9 Gene

  1. Structure of the poly-C9 component of the complement membrane attack complex. (PMID: 26841934) Dudkina NV … Dunstone MA (Nature communications 2016) 3 4 58
  2. Assembly and regulation of the membrane attack complex based on structures of C5b6 and sC5b9. (PMID: 22832194) Hadders MA … Gros P (Cell reports 2012) 3 4 58
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for C9 Gene

Sources for C9 Gene

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