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Aliases for C7 Gene

Aliases for C7 Gene

  • Complement C7 2 3 5
  • Complement Component 7 2

External Ids for C7 Gene

Previous GeneCards Identifiers for C7 Gene

  • GC05P041235
  • GC05P042001
  • GC05P040909
  • GC05P040955
  • GC05P040974

Summaries for C7 Gene

Entrez Gene Summary for C7 Gene

  • This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]

GeneCards Summary for C7 Gene

C7 (Complement C7) is a Protein Coding gene. Diseases associated with C7 include C7 Deficiency and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Immune System and Complement Pathway. An important paralog of this gene is C6.

UniProtKB/Swiss-Prot for C7 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. C7 serves as a membrane anchor.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C7 Gene

Genomics for C7 Gene

Regulatory Elements for C7 Gene

Enhancers for C7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F041263 0.7 ENCODE 7.1 +354.8 354776 1.9 RAD21 NR2F2 C7 PLCXD3 C6 LOC102723740
GH05F040967 0.3 FANTOM5 2.2 +58.7 58713 0.3 ZNF133 C6 MROH2B C7 ENSG00000248120
GH05F040903 0.7 ENCODE 0.8 -4.7 -4732 1.9 THRB RAD21 RARA YY1 ZNF143 MIXL1 THAP11 ZNF654 REST NR2F2 CARD6 C7
GH05F040909 0.7 ENCODE 0.8 +0.6 642 0.2 GATAD2A SOX13 SOX5 ZNF384 C7 RNU7-161P
GH05F040895 1.2 Ensembl 0.4 -13.6 -13550 0.6 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZSCAN9 RARA YY1 THAP11 SP5 CARD6 C7
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C7 on UCSC Golden Path with GeneCards custom track

Genomic Location for C7 Gene

40,909,252 bp from pter
41,016,004 bp from pter
106,753 bases
Plus strand

Genomic View for C7 Gene

Genes around C7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C7 Gene

Proteins for C7 Gene

  • Protein details for C7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Complement component C7
    Protein Accession:
    Secondary Accessions:
    • Q6P3T5
    • Q92489

    Protein attributes for C7 Gene

    843 amino acids
    Molecular mass:
    93518 Da
    Quaternary structure:
    • Monomer or dimer; as a C5b-7 complex it can also form multimeric rosettes. 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.

    Three dimensional structures from OCA and Proteopedia for C7 Gene

neXtProt entry for C7 Gene

Post-translational modifications for C7 Gene

  • C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • C7 has 28 disulfide bridges.
  • Glycosylation at Trp 36, Asn 202, Trp 503, Trp 506, Trp 509, Thr 696, and Asn 754
  • Modification sites at PhosphoSitePlus

Other Protein References for C7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for C7

No data available for DME Specific Peptides for C7 Gene

Domains & Families for C7 Gene

Suggested Antigen Peptide Sequences for C7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 EGF-like domain.
  • Belongs to the complement C6/C7/C8/C9 family.
  • Contains 1 EGF-like domain.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 MACPF domain.
  • Contains 2 Sushi (CCP/SCR) domains.
  • Contains 2 TSP type-1 domains.
  • Belongs to the complement C6/C7/C8/C9 family.
genes like me logo Genes that share domains with C7: view

Function for C7 Gene

Molecular function for C7 Gene

GENATLAS Biochemistry:
complement component 7,beta-2 globulin,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. C7 serves as a membrane anchor.
genes like me logo Genes that share phenotypes with C7: view

Human Phenotype Ontology for C7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C7 Gene

Localization for C7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C7 Gene


Subcellular locations from

Jensen Localization Image for C7 Gene COMPARTMENTS Subcellular localization image for C7 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005579 membrane attack complex IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with C7: view

Pathways & Interactions for C7 Gene

genes like me logo Genes that share pathways with C7: view

Gene Ontology (GO) - Biological Process for C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006883 cellular sodium ion homeostasis IEA --
GO:0006955 immune response IEA --
GO:0006956 complement activation TAS 3335508
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
genes like me logo Genes that share ontologies with C7: view

No data available for SIGNOR curated interactions for C7 Gene

Drugs & Compounds for C7 Gene

(1) Drugs for C7 Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
carnitine Nutra 158
genes like me logo Genes that share compounds with C7: view

Transcripts for C7 Gene

Unigene Clusters for C7 Gene

Complement component 7:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b
SP1: - -
SP2: - - - - - -

Relevant External Links for C7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C7 Gene

mRNA differential expression in normal tissues according to GTEx for C7 Gene

This gene is overexpressed in Heart - Atrial Appendage (x5.8), Ovary (x5.6), and Adrenal Gland (x4.0).

Protein differential expression in normal tissues from HIPED for C7 Gene

This gene is overexpressed in Serum (19.6), Plasma (14.2), and Synovial fluid (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C7 Gene

Protein tissue co-expression partners for C7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C7 Gene:


SOURCE GeneReport for Unigene cluster for C7 Gene:

genes like me logo Genes that share expression patterns with C7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C7 Gene

Orthologs for C7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C7 34 35
  • 99.41 (n)
(Canis familiaris)
Mammalia C7 34 35
  • 84.37 (n)
(Bos Taurus)
Mammalia C7 34 35
  • 84.13 (n)
(Rattus norvegicus)
Mammalia C7 34
  • 81.77 (n)
(Mus musculus)
Mammalia C7 34 16 35
  • 79.23 (n)
(Monodelphis domestica)
Mammalia C7 35
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 61 (a)
-- 35
  • 60 (a)
(Gallus gallus)
Aves C7 34 35
  • 66.34 (n)
(Anolis carolinensis)
Reptilia C7 35
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c7 34
  • 62.24 (n)
Str.11855 34
(Danio rerio)
Actinopterygii c7b 34
  • 54.16 (n)
C7 (2 of 2) 35
  • 44 (a)
c7a 35
  • 40 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11577 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
-- 35
  • 28 (a)
-- 35
  • 25 (a)
-- 35
  • 24 (a)
-- 35
  • 23 (a)
-- 35
  • 23 (a)
Species where no ortholog for C7 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)
  • 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 C7 Gene

Gene Tree for C7 (if available)
Gene Tree for C7 (if available)

Paralogs for C7 Gene

Paralogs for C7 Gene

(2) SIMAP similar genes for C7 Gene using alignment to 3 proteins: Pseudogenes for C7 Gene

genes like me logo Genes that share paralogs with C7: view

Variants for C7 Gene

Sequence variations from dbSNP and Humsavar for C7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs113187203 Complement component 7 deficiency (C7D) [MIM:610102] 40,972,580(+) TGCCC(A/G/T)CTGTG reference, missense
rs121964920 Complement component 7 deficiency (C7D) [MIM:610102], Pathogenic 40,959,520(+) GAAGC(A/C/T)GTGAA reference, missense
rs121964921 Complement component 7 deficiency (C7D) [MIM:610102], Pathogenic 40,955,428(+) TCAGA(A/C/G)GGGGA reference, missense
rs369349760 Complement component 7 deficiency (C7D) [MIM:610102] 40,945,289(+) TAGTC(A/G)GAAGC reference, missense
rs541873000 Complement component 7 deficiency (C7D) [MIM:610102] 40,972,564(+) GTCCT(C/G)AGATG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for C7 Gene

Variant ID Type Subtype PubMed ID
esv1086081 CNV insertion 17803354
esv1534008 CNV insertion 17803354
esv2676304 CNV deletion 23128226
esv2759341 CNV loss 17122850
esv35077 CNV loss 17911159
esv3565851 CNV deletion 23714750
esv3604831 CNV loss 21293372
esv3604832 CNV loss 21293372
esv3604833 CNV gain 21293372
esv3604834 CNV loss 21293372
esv3894179 CNV loss 25118596
nsv1140535 CNV deletion 24896259
nsv477582 CNV novel sequence insertion 20440878
nsv507248 OTHER sequence alteration 20534489
nsv823055 CNV loss 20364138
nsv823056 CNV loss 20364138
nsv823057 CNV loss 20364138
nsv830268 CNV gain 17160897

Variation tolerance for C7 Gene

Residual Variation Intolerance Score: 83.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.19; 93.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C7 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C7 Gene

Disorders for C7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for C7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
c7 deficiency
  • complement component 7 deficiency
immunodeficiency due to a late component of complement deficiency
  • deficiency of complement of terminal pathway
meningococcal infection
  • meningococcal infections
- elite association - COSMIC cancer census association via MalaCards
Search C7 in MalaCards View complete list of genes associated with diseases


  • Complement component 7 deficiency (C7D) [MIM:610102]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. {ECO:0000269 PubMed:8871666, ECO:0000269 PubMed:9218625, ECO:0000269 PubMed:9856499}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Genatlas disease for C7 Gene


Relevant External Links for C7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C7: view

Publications for C7 Gene

  1. Solution structure of factor I-like modules from complement C7 reveals a pair of follistatin domains in compact pseudosymmetric arrangement. (PMID: 19419965) Phelan M.M. … Bramham J. (J. Biol. Chem. 2009) 3 4 22 64
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease. (PMID: 19931914) Kuijpers T.W. … de Boer M. (Mol. Immunol. 2010) 3 22 64

Products for C7 Gene

Sources for C7 Gene

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