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Aliases for C7 Gene

Aliases for C7 Gene

  • Complement Component 7 2 3 5

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

  • C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. [provided by RefSeq, Jul 2008]

GeneCards Summary for C7 Gene

C7 (Complement Component 7) 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 Complement and coagulation cascades and Immune System. 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

Genomic Location for C7 Gene

Chromosome:
5
Start:
40,909,252 bp from pter
End:
41,016,004 bp from pter
Size:
106,753 bases
Orientation:
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:
    P10643-CO7_HUMAN
    Recommended name:
    Complement component C7
    Protein Accession:
    P10643
    Secondary Accessions:
    • Q6P3T5
    • Q92489

    Protein attributes for C7 Gene

    Size:
    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 protelytic 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

Proteomics data for C7 Gene at MOPED

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

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

P10643

UniProtKB/Swiss-Prot:

CO7_HUMAN :
  • Contains 1 EGF-like domain.
  • Belongs to the complement C6/C7/C8/C9 family.
Domain:
  • 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.
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

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

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

Secreted.

Subcellular locations from

COMPARTMENTS
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:0005579 membrane attack complex IEA --
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:0006956 complement activation TAS 3335508
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 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 146
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:

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: - - - - - -
SP3:
SP4:

Relevant External Links for C7 Gene

GeneLoc Exon Structure for
C7
ECgene alternative splicing isoforms for
C7

Expression for C7 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for C7 Gene Hs.78065

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

Protein tissue co-expression partners for C7 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia C7 36
  • 99 (a)
OneToOne
C7 35
  • 99.41 (n)
  • 99.05 (a)
cow
(Bos Taurus)
Mammalia C7 36
  • 80 (a)
OneToOne
C7 35
  • 84.13 (n)
  • 79.93 (a)
dog
(Canis familiaris)
Mammalia C7 35
  • 84.37 (n)
  • 81.43 (a)
C7 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C7 16
C7 36
  • 74 (a)
OneToOne
C7 35
  • 79.23 (n)
  • 73.96 (a)
oppossum
(Monodelphis domestica)
Mammalia C7 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
OneToMany
-- 36
  • 60 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia C7 35
  • 81.77 (n)
  • 79.57 (a)
chicken
(Gallus gallus)
Aves C7 35
  • 66.34 (n)
  • 60.19 (a)
C7 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C7 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7 35
  • 62.24 (n)
  • 56.51 (a)
Str.11855 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11577 35
zebrafish
(Danio rerio)
Actinopterygii C7 (2 of 2) 36
  • 44 (a)
OneToMany
c7a 36
  • 40 (a)
OneToMany
c7b 35
  • 54.16 (n)
  • 46.05 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
Species with no ortholog for C7:
  • 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

ENSEMBL:
Gene Tree for C7 (if available)
TreeFam:
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.org 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
VAR_012643 Complement component 7 deficiency (C7D)
VAR_012644 Complement component 7 deficiency (C7D)
rs121964920 Complement component 7 deficiency (C7D) 40,959,520(+) GAAGC(A/C/T)GTGAA reference, missense
VAR_012646 Complement component 7 deficiency (C7D)
rs113187203 Complement component 7 deficiency (C7D) 40,972,580(+) TGCCC(A/G/T)CTGTG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv881467 CNV Loss 21882294
dgv1797e1 CNV Complex 17122850
nsv823055 CNV Loss 20364138
esv35077 CNV Loss 17911159
nsv830268 CNV Gain 17160897
nsv880796 CNV Gain 21882294
nsv823056 CNV Loss 20364138
esv1534008 CNV Insertion 17803354
nsv507248 CNV Insertion 20534489
nsv823057 CNV Loss 20364138
esv2676304 CNV Deletion 23128226
esv1086081 CNV Insertion 17803354

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

HapMap Linkage Disequilibrium report
C7
Human Gene Mutation Database (HGMD)
C7

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

Disorders for C7 Gene

MalaCards: The human disease database

(6) MalaCards diseases for C7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, 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
epidermolysis bullosa dystrophica
  • dystrophic epidermolysis bullosa
pyoderma gangrenosum
- elite association - COSMIC cancer census association via MalaCards
Search C7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO7_HUMAN
  • 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

infections,recurrent,neisserial

Relevant External Links for C7

Genetic Association Database (GAD)
C7
Human Genome Epidemiology (HuGE) Navigator
C7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C7
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 23 67
  2. 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 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. Differential effects of Tat proteins derived from HIV-1 subtypes B and recombinant CRF02_AG on human brain microvascular endothelial cells: implications for blood-brain barrier dysfunction. (PMID: 24667918) Woollard S.M. … Kanmogne G.D. (J. Cereb. Blood Flow Metab. 2014) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for C7 Gene

Sources for C7 Gene

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