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Aliases for C8A Gene

Aliases for C8A Gene

  • Complement C8 Alpha Chain 2 3 5
  • Complement Component 8, Alpha Polypeptide 2
  • Complement Component 8 Alpha Subunit 2
  • Complement Component 8 Subunit Alpha 4

External Ids for C8A Gene

Previous GeneCards Identifiers for C8A Gene

  • GC01P057237
  • GC01P056235
  • GC01P056678
  • GC01P056690
  • GC01P057032
  • GC01P055432

Summaries for C8A Gene

Entrez Gene Summary for C8A Gene

  • C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 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 complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

GeneCards Summary for C8A Gene

C8A (Complement C8 Alpha Chain) is a Protein Coding gene. Diseases associated with C8A include Complement Component 8 Deficiency, Type I and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include protein complex binding and complement binding. An important paralog of this gene is C8B.

UniProtKB/Swiss-Prot for C8A 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. C8A inserts into the target membrane, but does not form pores by itself.

Additional gene information for C8A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8A Gene

Genomics for C8A Gene

GeneHancer (GH) Regulatory Elements for C8A Gene

Promoters and enhancers for C8A 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
GH01I056854 Promoter 1.2 EPDnew 550.8 +0.0 8 0.1 ELF3 FOXA2 MLX ARID4B DMAP1 THRB ZSCAN9 RAD21 RARA YY1 C8A GC01P056889
GH01I056907 Enhancer 1.2 FANTOM5 ENCODE 19.2 +55.2 55198 4.2 FOXA2 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 RXRA SP5 NCOA1 C8B C8A FYB2 GC01P056889 LOC105378745
GH01I056574 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.3 -276.2 -276177 7.6 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF121 ZNF143 SP3 PLPP3 C8A FYB2 C8B PRKAA2 RPL23AP85 GC01P056539
GH01I056831 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11 -22.1 -22082 1.9 CTCF FOXA2 RB1 JUN ZSCAN4 ZNF384 RAD21 ETS1 ZNF766 ARID2 C8A ENSG00000229913 GC01P056845
GH01I057279 Enhancer 1.2 FANTOM5 ENCODE 4 +426.9 426913 4.5 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 ATF7 FOS C8A C8B FYB2 GC01P057267 GC01P057293
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C8A gene promoter:

Genomic Locations for C8A Gene

Genomic Locations for C8A Gene
chr1:56,854,770-56,918,221
(GRCh38/hg38)
Size:
63,452 bases
Orientation:
Plus strand
chr1:57,320,443-57,383,894
(GRCh37/hg19)

Genomic View for C8A Gene

Genes around C8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8A Gene

Proteins for C8A Gene

  • Protein details for C8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07357-CO8A_HUMAN
    Recommended name:
    Complement component C8 alpha chain
    Protein Accession:
    P07357
    Secondary Accessions:
    • A2RUI4
    • A2RUI5
    • Q13668
    • Q9H130

    Protein attributes for C8A Gene

    Size:
    584 amino acids
    Molecular mass:
    65163 Da
    Quaternary structure:
    • Heterotrimer of 3 chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded. Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b sequentially binds C6, C7, C8 and multiple copies of the pore-forming subunit C9.

    Three dimensional structures from OCA and Proteopedia for C8A Gene

neXtProt entry for C8A Gene

Post-translational modifications for C8A Gene

  • Glycosylation at Trp44, Asn437, posLast=542542, posLast=545545, and posLast=548548
  • Modification sites at PhosphoSitePlus

Other Protein References for C8A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C8A Gene

Domains & Families for C8A Gene

Gene Families for C8A Gene

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

Suggested Antigen Peptide Sequences for C8A Gene

Graphical View of Domain Structure for InterPro Entry

P07357

UniProtKB/Swiss-Prot:

CO8A_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 C8A: view

Function for C8A Gene

Molecular function for C8A Gene

GENATLAS Biochemistry:
complement component 8,gamma-1 globulin,alpha polypeptide,64.8kDa, (<2.5kb, 5 from C8B),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. C8A inserts into the target membrane, but does not form pores by itself.

Gene Ontology (GO) - Molecular Function for C8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001848 complement binding IEA --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with C8A: view
genes like me logo Genes that share phenotypes with C8A: view

Human Phenotype Ontology for C8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for C8A Gene

Localization for C8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8A Gene

Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts into the cell membrane of target cells.

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 C8A gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IDA 12413696
GO:0005615 extracellular space IEA,TAS 6771072
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 2820471
genes like me logo Genes that share ontologies with C8A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C8A Gene

Pathways & Interactions for C8A Gene

genes like me logo Genes that share pathways with C8A: view

Gene Ontology (GO) - Biological Process for C8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006955 immune response TAS 6771072
GO:0006956 complement activation IDA 12413696
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
genes like me logo Genes that share ontologies with C8A: view

No data available for SIGNOR curated interactions for C8A Gene

Drugs & Compounds for C8A Gene

(1) Drugs for C8A Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2430
genes like me logo Genes that share compounds with C8A: view

Transcripts for C8A Gene

mRNA/cDNA for C8A Gene

Unigene Clusters for C8A Gene

Complement component 8, alpha polypeptide:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C8A Gene

No ASD Table

Relevant External Links for C8A Gene

GeneLoc Exon Structure for
C8A
ECgene alternative splicing isoforms for
C8A

Expression for C8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C8A Gene

This gene is overexpressed in Liver (x52.8).

Protein differential expression in normal tissues from HIPED for C8A Gene

This gene is overexpressed in Serum (20.6), Plasma (17.9), and Synovial fluid (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C8A Gene



Protein tissue co-expression partners for C8A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C8A Gene:

C8A

SOURCE GeneReport for Unigene cluster for C8A Gene:

Hs.93210

Evidence on tissue expression from TISSUES for C8A Gene

  • Liver(4.6)
  • Blood(4.3)
  • Bone marrow(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C8A 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 C8A: view

No data available for mRNA Expression by UniProt/SwissProt for C8A Gene

Orthologs for C8A Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C8A 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia C8A 33 34
  • 84.42 (n)
cow
(Bos Taurus)
Mammalia C8A 33 34
  • 82.66 (n)
rat
(Rattus norvegicus)
Mammalia C8a 33
  • 79.28 (n)
mouse
(Mus musculus)
Mammalia C8a 33 16 34
  • 78.88 (n)
oppossum
(Monodelphis domestica)
Mammalia C8A 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C8A 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8A 33 34
  • 60.93 (n)
lizard
(Anolis carolinensis)
Reptilia C8A 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c8a 33
  • 57.36 (n)
zebrafish
(Danio rerio)
Actinopterygii c8a 33 34
  • 52.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
-- 34
  • 25 (a)
ManyToMany
Species where no ortholog for C8A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 C8A Gene

ENSEMBL:
Gene Tree for C8A (if available)
TreeFam:
Gene Tree for C8A (if available)

Paralogs for C8A Gene

Paralogs for C8A Gene

(2) SIMAP similar genes for C8A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C8A: view

Variants for C8A Gene

Sequence variations from dbSNP and Humsavar for C8A Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs652785 benign, COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM, not specified 56,875,054(+) C/A coding_sequence_variant, missense_variant
rs150404785 uncertain-significance, not provided 56,876,130(+) G/A coding_sequence_variant, missense_variant
rs74075638 uncertain-significance, not specified 56,885,915(+) G/A/T intron_variant
rs764626828 uncertain-significance, not specified 56,876,190(+) T/C coding_sequence_variant, missense_variant
rs1342440 benign, not specified 56,917,642(+) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for C8A Gene

Variant ID Type Subtype PubMed ID
esv3586132 CNV loss 21293372
esv3586133 CNV loss 21293372
nsv508215 CNV deletion 20534489

Variation tolerance for C8A Gene

Residual Variation Intolerance Score: 88.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.19; 90.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C8A Gene

Human Gene Mutation Database (HGMD)
C8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C8A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C8A Gene

Disorders for C8A Gene

MalaCards: The human disease database

(3) MalaCards diseases for C8A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
complement component 8 deficiency, type i
  • c8d1
immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to c5 to c9 component complement deficiency
complement component 8 deficiency
  • c8 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search C8A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO8A_HUMAN
  • Complement component 8 deficiency, 1 (C8D1) [MIM:613790]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for C8A

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 C8A: view

No data available for Genatlas for C8A Gene

Publications for C8A Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. 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
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  4. 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
  5. Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit. (PMID: 18440555) Slade DJ … Sodetz JM (Journal of molecular biology 2008) 3 4 58

Products for C8A Gene

Sources for C8A Gene

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