The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha an... See more...

Aliases for C8G Gene

Aliases for C8G Gene

  • Complement C8 Gamma Chain 2 3 5
  • Complement Component 8, Gamma Polypeptide 2 3
  • Complement Component C8 Gamma Chain 3 4
  • C8C 3
  • C8G 5

External Ids for C8G Gene

Previous GeneCards Identifiers for C8G Gene

  • GC09U990012
  • GC09P131529
  • GC09P133280
  • GC09P135197
  • GC09P137115
  • GC09P138959
  • GC09P139839
  • GC09P109299

Summaries for C8G Gene

Entrez Gene Summary for C8G Gene

  • The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]

GeneCards Summary for C8G Gene

C8G (Complement C8 Gamma Chain) is a Protein Coding gene. Diseases associated with C8G include Immunodeficiency Due To A Late Component Of Complement Deficiency and Acute Salpingo-Oophoritis. Among its related pathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Gene Ontology (GO) annotations related to this gene include complement binding.

UniProtKB/Swiss-Prot Summary for C8G Gene

  • C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C8G Gene

Genomics for C8G Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C8G 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
GH09J136942 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.6 2591 10.6 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 TFE3 LEF1 LCN12 C8G FBXW5 HSALNG0075325 EHMT1 ENTR1 DPH7 ANAPC2 SEC16A SNHG7
GH09J136881 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -60.2 -60211 6.7 SP1 HNRNPL CREB1 GATAD2A ZBTB33 TFE3 NFKBIZ ZNF692 POLR2A RCOR2 LOC105376326 TRAF2 lnc-MAMDC4-2 lnc-EDF1-2 PHPT1 EHMT1 SNHG7 MAMDC4 AJM1 C8G
GH09J136787 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -148.1 -148067 18.1 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 LEF1 SOX13 TMEM141 CCDC183 DPH7 ANAPC2 EHMT1 ENTR1 SNHG7 SEC16A MAN1B1 NDOR1
GH09J136784 Enhancer 1.1 Ensembl ENCODE 10.8 -159.3 -159270 2 ZBTB33 LEF1 IKZF1 BACH1 JUND MTA2 PHF21A PKNOX1 MTA1 PATZ1 LCN8 ABCA2 NDOR1 LCN10 RABL6 CCDC183-AS1 LCN12 LINC02692 C8G FBXW5
GH09J136822 Promoter/Enhancer 0.7 Ensembl ENCODE 11.6 -123.4 -123369 1.4 RBFOX2 RBM22 ZSCAN16 CCDC183 AJM1 MAMDC4 PHPT1 LCN12 FBXW5 C8G NCLP1 MIR4292 RABL6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C8G on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C8G

Top Transcription factor binding sites by QIAGEN in the C8G gene promoter:
  • AML1a
  • AP-2gamma
  • ATF6
  • HEN1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3
  • USF-1
  • USF1

Genomic Locations for C8G Gene

Genomic Locations for C8G Gene
chr9:136,944,870-136,946,981
(GRCh38/hg38)
Size:
2,112 bases
Orientation:
Plus strand
chr9:139,839,698-139,841,426
(GRCh37/hg19)
Size:
1,729 bases
Orientation:
Plus strand

Genomic View for C8G Gene

Genes around C8G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8G Gene

Proteins for C8G Gene

  • Protein details for C8G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07360-CO8G_HUMAN
    Recommended name:
    Complement component C8 gamma chain
    Protein Accession:
    P07360
    Secondary Accessions:
    • Q14CT8
    • Q14CU0
    • Q5SQ07

    Protein attributes for C8G Gene

    Size:
    202 amino acids
    Molecular mass:
    22277 Da
    Quaternary structure:
    • C8 is composed of three chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded.

    Three dimensional structures from OCA and Proteopedia for C8G Gene

neXtProt entry for C8G Gene

Post-translational modifications for C8G Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C8G Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C8G Gene

Domains & Families for C8G Gene

Gene Families for C8G Gene

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

Protein Domains for C8G Gene

InterPro:
Blocks:
  • Lipocalin signature
  • Alpha-1-microglobulin signature
ProtoNet:

Suggested Antigen Peptide Sequences for C8G Gene

GenScript: Design optimal peptide antigens:
  • Complement component C8 gamma chain (CO8G_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07360

UniProtKB/Swiss-Prot:

CO8G_HUMAN :
  • Belongs to the calycin superfamily. Lipocalin family.
Family:
  • Belongs to the calycin superfamily. Lipocalin family.
genes like me logo Genes that share domains with C8G: view

Function for C8G Gene

Molecular function for C8G Gene

UniProtKB/Swiss-Prot Function:
C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.
GENATLAS Biochemistry:
complement component 8,gamma-1 globulin,complexing with other late components of the cascade to form the membrane attacks complex,gamma,(lipocalin family,Kernel group),associating with CD59,potential regulator of the complex helping to protect host cells from lysis

Phenotypes From GWAS Catalog for C8G Gene

Gene Ontology (GO) - Molecular Function for C8G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001848 complement binding IEA,IBA 21873635
GO:0019841 retinol binding IEA --
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with C8G: view
genes like me logo Genes that share phenotypes with C8G: view

Animal Model Products

  • Taconic Biosciences Mouse Models for C8G

CRISPR Products

miRNA for C8G Gene

miRTarBase miRNAs that target C8G

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8G

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C8G Gene

Localization for C8G Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8G Gene

Secreted.

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 C8G gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for C8G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IEA --
GO:0005615 extracellular space IEA --
GO:0070062 extracellular exosome HDA 23533145
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with C8G: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C8G Gene

Pathways & Interactions for C8G Gene

PathCards logo

SuperPathways for C8G Gene

SuperPathway Contained pathways
1 Immune response Lectin induced complement pathway
.56
.56
.55
2 Complement Pathway
.62
.01
.01
.01
3 Complement and coagulation cascades
4 Creation of C4 and C2 activators
5 Innate Immune System
genes like me logo Genes that share pathways with C8G: view

Pathways by source for C8G Gene

3 GeneGo (Thomson Reuters) pathways for C8G Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
4 Qiagen pathways for C8G Gene
  • Alternative Complement Pathway
  • Classical Complement Pathway
  • Complement Pathway
  • Lectin Induced Complement Pathway

Interacting Proteins for C8G Gene

Gene Ontology (GO) - Biological Process for C8G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0019835 cytolysis IEA --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with C8G: view

No data available for SIGNOR curated interactions for C8G Gene

Drugs & Compounds for C8G Gene

(4) Drugs for C8G Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
lauric acid Approved, Experimental Pharma Agonist, Target 0
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
Citric acid Approved, Vet_approved Nutra Activator, Agonist, Target 1509
genes like me logo Genes that share compounds with C8G: view

Transcripts for C8G Gene

mRNA/cDNA for C8G Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C8G

Alternative Splicing Database (ASD) splice patterns (SP) for C8G Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2:
SP3: -

Relevant External Links for C8G Gene

GeneLoc Exon Structure for
C8G

Expression for C8G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C8G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C8G Gene

This gene is overexpressed in Liver (x47.9).

Protein differential expression in normal tissues from HIPED for C8G Gene

This gene is overexpressed in Serum (18.6), Plasma (15.8), and Synovial fluid (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C8G Gene



Protein tissue co-expression partners for C8G Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C8G

SOURCE GeneReport for Unigene cluster for C8G Gene:

Hs.1285

Evidence on tissue expression from TISSUES for C8G Gene

  • Liver(4.6)
  • Blood(4.4)
  • Intestine(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C8G 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 C8G: view

No data available for mRNA Expression by UniProt/SwissProt for C8G Gene

Orthologs for C8G Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8G Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C8G 30 31
  • 92.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C8G 30 31
  • 83.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C8g 30
  • 81.62 (n)
Mouse
(Mus musculus)
Mammalia C8g 30 17 31
  • 77.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C8G 31
  • 56 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C8G 31
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C8G 31
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C8G 30 31
  • 59.29 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c8g 30
  • 59.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii c8g 30 31
  • 47.62 (n)
OneToOne
Species where no ortholog for C8G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Squirt (Ciona savignyi)
  • 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 C8G Gene

ENSEMBL:
Gene Tree for C8G (if available)
TreeFam:
Gene Tree for C8G (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C8G: view image

Paralogs for C8G Gene

(1) SIMAP similar genes for C8G Gene using alignment to 2 proteins:

  • CO8G_HUMAN
  • Q5SQ08_HUMAN
genes like me logo Genes that share paralogs with C8G: view

No data available for Paralogs for C8G Gene

Variants for C8G Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C8G Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
636372 Uncertain Significance: not provided 136,945,970(+) CAG/C FRAMESHIFT_VARIANT
769761 Benign: not provided 136,945,701(+) G/A MISSENSE_VARIANT
827972 Uncertain Significance: not provided 136,946,551(+) T/C MISSENSE_VARIANT
rs758635843 Uncertain Significance: not provided 136,945,408(+) G/GCATCCCC FRAMESHIFT_VARIANT
rs17613 - p.His124Asn

Additional dbSNP identifiers (rs#s) for C8G Gene

Structural Variations from Database of Genomic Variants (DGV) for C8G Gene

Variant ID Type Subtype PubMed ID
esv2422220 CNV deletion 17116639
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615987 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv951206 CNV deletion 24416366

Variation tolerance for C8G Gene

Residual Variation Intolerance Score: 87.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.58; 72.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C8G Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C8G

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8G Gene

Disorders for C8G Gene

MalaCards: The human disease database

(3) MalaCards diseases for C8G Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to c5 to c9 component complement deficiency
acute salpingo-oophoritis
  • acute salpingitis and oophoritis
salpingo-oophoritis
  • salpingitis/oophoritis
- elite association - COSMIC cancer census association via MalaCards
Search C8G in MalaCards View complete list of genes associated with diseases

Additional Disease Information for C8G

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with C8G: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C8G Gene

Publications for C8G Gene

  1. 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 41
  2. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 41
  3. Structural features of the ligand binding site on human complement protein C8gamma: a member of the lipocalin family. (PMID: 17452033) Chiswell B … Sodetz JM (Biochimica et biophysica acta 2007) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. Crystal structure of human complement protein C8gamma at 1.2 A resolution reveals a lipocalin fold and a distinct ligand binding site. (PMID: 12033936) Ortlund E … Lebioda L (Biochemistry 2002) 3 4

Products for C8G Gene

Sources for C8G Gene