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Aliases for C7 Gene

Aliases for C7 Gene

  • Complement C7 2 3 5
  • Complement Component 7 2 3
  • Complement Component C7 3

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 Complement Component 7 Deficiency and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Complement and coagulation cascades 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.

Additional gene information for C7 Gene

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

Genomics for C7 Gene

GeneHancer (GH) Regulatory Elements for C7 Gene

Promoters and enhancers for C7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J040909 Promoter 0.9 EPDnew 650.7 +0.2 226 0.1 CBFA2T3 NR2F2 TCF12 NCOR1 KLF16 HDAC2 KDM1A RCOR1 C7 RNU7-161P
GH05J040910 Enhancer 0.5 ENCODE 650.7 +0.6 642 0.2 SOX5 SOX13 GATAD2A ZNF384 C7 RNU7-161P
GH05J041263 Enhancer 0.5 ENCODE 7.1 +354.8 354775 1.9 POLR2A RCOR1 RAD21 ATF2 CHD2 NR2F2 C7 PLCXD3 C6 LOC102723740 GC05P041223
GH05J040903 Enhancer 1 Ensembl ENCODE 0.7 -4.7 -4731 1.9 RB1 THRB RAD21 RARA YY1 ARID2 ZNF143 RCOR1 THAP11 MIXL1 CARD6 C7
GH05J040967 Enhancer 0.3 FANTOM5 2.2 +58.7 58713 0.3 ZNF133 ENSG00000248120 C6 MROH2B C7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C7 gene promoter:
  • C/EBPalpha
  • RFX1
  • AP-4
  • Nkx2-5
  • Nkx2-2
  • FOXJ2 (long isoform)
  • FOXJ2
  • HOXA3
  • Evi-1

Genomic Locations for C7 Gene

Genomic Locations for C7 Gene
106,753 bases
Plus strand
73,688 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

  • C7 has 28 disulfide bridges.
  • C-, N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at posLast=754754, posLast=696696, posLast=509509, posLast=506506, posLast=503503, posLast=202202, and posLast=3636
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CO7_HUMAN (807)

Other Protein References for C7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C7 Gene

Domains & Families for C7 Gene

Gene Families for C7 Gene

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

Suggested Antigen Peptide Sequences for C7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the complement C6/C7/C8/C9 family.
  • 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

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.
GENATLAS Biochemistry:
complement component 7,beta-2 globulin,complexing with other late components of the cascade to form the membrane attack complex

Phenotypes From GWAS Catalog for C7 Gene

Gene Ontology (GO) - Molecular Function for C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with C7: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

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 C7 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for C7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IDA,TAS 22832194
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with C7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C7 Gene

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 157
genes like me logo Genes that share compounds with C7: view

Transcripts for C7 Gene

mRNA/cDNA for C7 Gene

Unigene Clusters for C7 Gene

Complement component 7:
Representative Sequences:

Clone 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 CGAP 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 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:


Evidence on tissue expression from TISSUES for C7 Gene

  • Nervous system(4.4)
  • Bone marrow(4)
  • Adrenal gland(2.7)
  • Liver(2.5)
  • Heart(2.4)
  • Kidney(2.4)
  • Lung(2.4)
  • Gall bladder(2.3)
  • Muscle(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
  • esophagus
  • heart
  • lung
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • fallopian tube
  • ovary
  • prostate
  • rectum
  • testicle
  • urethra
  • vagina
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • lymph node
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with C7: view

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 33
  • 99.41 (n)
(Canis familiaris)
Mammalia C7 34 33
  • 84.37 (n)
(Bos Taurus)
Mammalia C7 34 33
  • 84.13 (n)
(Rattus norvegicus)
Mammalia C7 33
  • 81.77 (n)
(Mus musculus)
Mammalia C7 16 34 33
  • 79.23 (n)
(Monodelphis domestica)
Mammalia C7 34
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
-- 34
  • 60 (a)
(Gallus gallus)
Aves C7 34 33
  • 66.34 (n)
(Anolis carolinensis)
Reptilia C7 34
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c7 33
  • 62.24 (n)
Str.11855 33
(Danio rerio)
Actinopterygii c7b 33
  • 54.16 (n)
C7 (2 of 2) 34
  • 44 (a)
c7a 34
  • 40 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11577 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
-- 34
  • 28 (a)
-- 34
  • 25 (a)
-- 34
  • 24 (a)
-- 34
  • 23 (a)
-- 34
  • 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)
Evolutionary constrained regions (ECRs) for C7: view image

Paralogs for C7 Gene

Paralogs for C7 Gene

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

  • Q05CI3_HUMAN
  • Q8TCS7_HUMAN 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 Variation AA Info Type
rs113187203 Complement component 7 deficiency (C7D) [MIM:610102] 40,972,580(+) G/A/T coding_sequence_variant, missense_variant
rs121964920 pathogenic, Complement component 7 deficiency, C7 and C6 deficiency, combined subtotal, Complement component 7 deficiency (C7D) [MIM:610102] 40,959,520(+) C/A/T coding_sequence_variant, missense_variant
rs121964921 pathogenic, Complement component 7 deficiency, Complement component 7 deficiency (C7D) [MIM:610102] 40,955,428(+) G/A/C/T coding_sequence_variant, missense_variant
rs121964922 pathogenic, Complement component 7 deficiency 40,958,230(+) T/A coding_sequence_variant, stop_gained
rs369349760 Complement component 7 deficiency (C7D) [MIM:610102] 40,945,289(+) G/A coding_sequence_variant, missense_variant

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)

Additional Variant Information for C7 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for C7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for C7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
complement component 7 deficiency
  • c7d
immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to c5 to c9 component complement deficiency
meningococcal infection
  • meningococcal infections
complement deficiency
  • complement deficiency disease
meningococcal meningitis
  • meningitis, meningococcal
- 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


Additional Disease Information for C7

Genetic Association Database
Human Genome Epidemiology 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 MM … Bramham J (The Journal of biological chemistry 2009) 3 4 22 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. Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease. (PMID: 19931914) Kuijpers TW … de Boer M (Molecular immunology 2010) 3 22 58

Products for C7 Gene

Sources for C7 Gene

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