Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated w... See more...

Aliases for C2 Gene

Aliases for C2 Gene

  • Complement C2 2 3 4 5
  • Complement Component 2 2 3
  • C3/C5 Convertase 3 4
  • EC 3.4.21.43 4 50
  • Complement Component C2 3
  • EC 3.4.21 50
  • ARMD14 3
  • CO2 3
  • C2 5

External Ids for C2 Gene

Previous GeneCards Identifiers for C2 Gene

  • GC06P031957
  • GC06P031636
  • GC06P031999
  • GC06P032003
  • GC06P031865
  • GC06P031682

Summaries for C2 Gene

Entrez Gene Summary for C2 Gene

  • Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]

GeneCards Summary for C2 Gene

C2 (Complement C2) is a Protein Coding gene. Diseases associated with C2 include Complement Component 2 Deficiency and Macular Degeneration, Age-Related, 14. Among its related pathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ENSG00000244255.

UniProtKB/Swiss-Prot Summary for C2 Gene

  • Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase.

Gene Wiki entry for C2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C2 Gene

Genomics for C2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C2 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
GH06J031896 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +2.1 2067 7.7 BCLAF1 ZNF207 MYC IKZF1 ZNF600 SIX5 SSRP1 ZNF592 POLR2A CEBPA C2 EHMT2 HSALNG0049345 HSALNG0049346 ZBTB12 C4A BAG6 CCHCR1 DXO STK19B
GH06J031929 Promoter 1.4 EPDnew Ensembl 250.3 +30.3 30318 1 SSRP1 ZMYM3 KLF9 ATF3 CHD4 YY1 MXD4 KLF11 KMT2B THAP11 ENSG00000244255 C2 ATF6B DDX39B LY6G5B SKIV2L PBX2 LSM2 DXO STK19B
GH06J031927 Promoter 1.1 EPDnew 250.3 +29.7 29723 0.1 SSRP1 ZMYM3 KLF9 CEBPA ATF3 CHD4 YY1 MXD4 FOXA1 KLF11 ENSG00000244255 C2 PRRC2A ZBTB12 EHMT2 hsa-miR-5095-423 MG828730-053 RF00017-4926 RF00017-4930
GH06J031861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 -33.8 -33811 4.7 SP1 ZNF207 ZNF654 MYC NCOR1 IKZF1 ZNF600 JUND ZMYM3 KLF9 NONHSAG046131.2 NEU1 lnc-NEU1-1 LY6G5B ATF6B DDX39B LSM2 GTF2H4 MSH5 SKIV2L
GH06J031944 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.2 +49.8 49755 6.8 NCOR1 MYC IKZF1 SSRP1 ZNF592 KLF9 CEBPA ATF3 POLR2A CHD4 CFB HSALNG0049351 SKIV2L ATF6B DDX39B LY6G5B LSM2 MSH5 CSNK2B ZBTB12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C2

Top Transcription factor binding sites by QIAGEN in the C2 gene promoter:
  • AP-1
  • c-Jun
  • C/EBPbeta
  • IRF-1
  • MyoD

Genomic Locations for C2 Gene

Latest Assembly
chr6:31,897,783-31,945,672
(GRCh38/hg38)
Size:
47,890 bases
Orientation:
Plus strand

Previous Assembly
chr6:31,865,560-31,913,449
(GRCh37/hg19 by Entrez Gene)
Size:
47,890 bases
Orientation:
Plus strand

chr6:31,865,562-31,913,449
(GRCh37/hg19 by Ensembl)
Size:
47,888 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):3,375,208-3,423,099 (+)
  • chr6(ALT_REF_LOCI_3):3,145,557-3,193,452 (+)
  • chr6(ALT_REF_LOCI_4):3,232,932-3,250,649 (+)
  • chr6(ALT_REF_LOCI_5):3,239,855-3,287,708 (+)
  • chr6(ALT_REF_LOCI_6):3,153,755-3,201,647 (+)
  • chr6(ALT_REF_LOCI_7):3,228,956-3,246,861 (+)

Genomic View for C2 Gene

Genes around C2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for C2 Gene

  • Protein details for C2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06681-CO2_HUMAN
    Recommended name:
    Complement C2
    Protein Accession:
    P06681
    Secondary Accessions:
    • B4DPF3
    • B4DV20
    • E9PFN7
    • O19694
    • Q13904

    Protein attributes for C2 Gene

    Size:
    752 amino acids
    Molecular mass:
    83268 Da
    Quaternary structure:
    • C2a interacts with Schistosoma haematobium TOR (via N-terminal extracellular domain). This results in inhibition of the classical and lectin pathway of complement activation, probably due to interference with binding of C2a to C4b such that C3 convertase cannot be formed. This infers resistance to complement-mediated cell lysis, allowing parasite survival and infection.
    Miscellaneous:
    • C2 is a major histocompatibility complex class-III protein.

    Three dimensional structures from OCA and Proteopedia for C2 Gene

    Alternative splice isoforms for C2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2 Gene

Selected DME Specific Peptides for C2 Gene

P06681:
  • KVKMSTHARPICLPCT
  • LGATNPTQ
  • MVDRIFSFEI
  • VLTAAHC
  • SFECEDGF
  • IILLTDGKSNMG
  • GSTCRDHE
  • LRGSPVR
  • PCKGESGGAVFL
  • RPICLPCT
  • QPWLRQHL
  • WDGETAVCDNGA
  • NYKDHENGTGTN
  • GVWSGTE
  • HCPNPGIS
  • VAIITFAS
  • RDFHINL
  • LGSKKDGERHAFIL
  • DYLDIYAIGVG
  • EFYGDDIALLKL
  • LWRVNVGDP
  • IQRSGHLNLYLLLD
  • GDKVRYRCSS
  • RFFQVGLVSWGL
  • CKPVRCPAPVSFENG
  • EVVTDQFLCSG
  • ICGVGNMSANAS
  • KALHQVF
  • WVLTAAHCFR
  • LTAAHCF
  • WVLTAAH
  • PAHFVALNG
  • ICRQPYSYDFPEDVAPALGTSFSH
  • FTLSHGWAPGSLL

Post-translational modifications for C2 Gene

  • Glycosylation at Asn29, Asn112, Asn333, Asn290, Asn467, Asn471, Asn621, and Asn651
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for C2 Gene

Gene Families for C2 Gene

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

Protein Domains for C2 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Sushi domain/SCR domain/CCP module
  • Von Willebrand factor type A domain signature

Suggested Antigen Peptide Sequences for C2 Gene

GenScript: Design optimal peptide antigens:
  • Complement component 2 (A2BE05_HUMAN)
  • Complement component 2 (A2BE06_HUMAN)
  • cDNA FLJ38939 fis, clone NT2NE2015747, highly similar to COMPLEMENT C2 (EC 3.4.21.43) (B3KTX9_HUMAN)
  • cDNA FLJ59728, highly similar to Complement C2 (EC 3.4.21.43) (B4DPF3_HUMAN)
  • cDNA FLJ54376, highly similar to Complement C2 (EC 3.4.21.43) (B4DQI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06681

UniProtKB/Swiss-Prot:

CO2_HUMAN :
  • The MIDAS-like motif in the VWFA domain binds divalent metal cations.
  • Belongs to the peptidase S1 family.
Domain:
  • The MIDAS-like motif in the VWFA domain binds divalent metal cations.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with C2: view

Function for C2 Gene

Molecular function for C2 Gene

UniProtKB/Swiss-Prot Function:
Component C2 which is part of the classical pathway of the complement system is cleaved by activated factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor C4b to generate the C3 or C5 convertase.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to form C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to form C5a and C5b.; EC=3.4.21.43;.
GENATLAS Biochemistry:
complement component 2,110kDa,activated by C1r to form C2a and C2b,combining with C4A and C4B to form C3/C5 convertase,classical pathway of C3 activation

Enzyme Numbers (IUBMB) for C2 Gene

Phenotypes From GWAS Catalog for C2 Gene

Gene Ontology (GO) - Molecular Function for C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 25910212
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with C2: view
genes like me logo Genes that share phenotypes with C2: view

Human Phenotype Ontology for C2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for C2

miRNA for C2 Gene

miRTarBase miRNAs that target C2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2

Clone products for research

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for C2 Gene

Localization for C2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2 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 C2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space TAS 8621452
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with C2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C2 Gene

Pathways & Interactions for C2 Gene

PathCards logo

SuperPathways for C2 Gene

SuperPathway Contained pathways
1 Immune response Lectin induced complement pathway
.56
.55
2 Complement Pathway
.62
.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 C2: view

Pathways by source for C2 Gene

2 GeneGo (Thomson Reuters) pathways for C2 Gene
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
3 Qiagen pathways for C2 Gene
  • Classical Complement Pathway
  • Complement Pathway
  • Lectin Induced Complement Pathway

SIGNOR curated interactions for C2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for C2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation IEA,TAS --
GO:0006958 complement activation, classical pathway IEA --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with C2: view

Drugs & Compounds for C2 Gene

(2) Drugs for C2 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abaloparatide Approved, Investigational Pharma 17
genes like me logo Genes that share compounds with C2: view

Transcripts for C2 Gene

mRNA/cDNA for C2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for C2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ·
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - -
SP6: -
SP7: - -
SP8: - - -
SP9: - - - - -
SP10:
SP11:
SP12: -

ExUns: 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for C2 Gene

GeneLoc Exon Structure for
C2

Expression for C2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C2 Gene

This gene is overexpressed in Liver (x28.4).

Protein differential expression in normal tissues from HIPED for C2 Gene

This gene is overexpressed in Synovial fluid (18.8), Serum (16.2), and Monocytes (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2 Gene



Protein tissue co-expression partners for C2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C2

SOURCE GeneReport for Unigene cluster for C2 Gene:

Hs.408903

Evidence on tissue expression from TISSUES for C2 Gene

  • Liver(4.9)
  • Nervous system(4.5)
  • Kidney(4.4)
  • Intestine(4.4)
  • Bone marrow(4)
  • Lung(2.9)
  • Blood(2.2)
  • Spleen(2.1)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • scalp
  • thyroid
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with C2: view

No data available for mRNA Expression by UniProt/SwissProt for C2 Gene

Orthologs for C2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C2 29 30
  • 99.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C2 29
  • 85.29 (n)
Cow
(Bos Taurus)
Mammalia C2 29 30
  • 83.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C2 29
  • 80.21 (n)
Mouse
(Mus musculus)
Mammalia C2 29 16 30
  • 79.5 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C2 30
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C2 29 30
  • 54.74 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c2 29
  • 49.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC563828 29
  • 48.98 (n)
C2 30
  • 31 (a)
OneToOne
-- 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 20 (a)
ManyToMany
-- 30
  • 19 (a)
ManyToMany
-- 30
  • 18 (a)
ManyToMany
Species where no ortholog for C2 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)
  • Oppossum (Monodelphis domestica)
  • 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 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 C2 Gene

ENSEMBL:
Gene Tree for C2 (if available)
TreeFam:
Gene Tree for C2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C2: view image
Alliance of Genome Resources:
Additional Orthologs for C2

Paralogs for C2 Gene

(5) SIMAP similar genes for C2 Gene using alignment to 17 proteins:

  • CO2_HUMAN
  • A2ABG0_HUMAN
  • B4DQI1_HUMAN
  • C9JYQ5_HUMAN
  • E9PDZ0_HUMAN
  • F2Z306_HUMAN
  • F2Z3N2_HUMAN
  • F8WCJ9_HUMAN
  • H0Y3H6_HUMAN
  • H0Y868_HUMAN
  • Q5JP69_HUMAN
  • Q5ST52_HUMAN
  • Q6LBG4_HUMAN
  • Q6LDG4_HUMAN
  • Q86SV5_HUMAN
  • Q8N6L6_HUMAN
  • Q95IG1_HUMAN
genes like me logo Genes that share paralogs with C2: view

Variants for C2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1022307 Uncertain Significance: not provided 31,928,000(+) C/T
NM_000063.6(C2):c.92C>T (p.Ser31Leu)
MISSENSE_VARIANT,GENIC_UPSTREAM_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1032161 Uncertain Significance: Complement component 2 deficiency 31,945,269(+) C/T
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
MISSENSE
1039542 Uncertain Significance: not provided 31,945,253(+) C/T
NM_000063.6(C2):c.2155C>T (p.Arg719Cys)
MISSENSE
904584 Uncertain Significance: Complement component 2 deficiency; Age-related macular degeneration 14 31,927,981(+) C/T
NM_000063.6(C2):c.73C>T (p.Pro25Ser)
MISSENSE_VARIANT,GENIC_UPSTREAM_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
904585 Uncertain Significance: Complement component 2 deficiency; Age-related macular degeneration 14 31,928,017(+) C/T
NM_000063.6(C2):c.109C>T (p.Leu37Phe)
MISSENSE_VARIANT,GENIC_UPSTREAM_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C2 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10464n54 CNV loss 21841781
dgv10465n54 CNV loss 21841781
esv2422045 CNV deletion 20811451
esv2658525 CNV deletion 23128226
esv2663182 CNV deletion 23128226
esv2731824 CNV deletion 23290073
esv2759415 CNV gain+loss 17122850
esv3567540 CNV deletion 23714750
esv3570963 CNV loss 25503493
esv3608572 CNV loss 21293372
esv3608573 CNV loss 21293372
esv3890823 CNV loss 25118596
esv988690 CNV gain 20482838
nsv1073969 CNV deletion 25765185
nsv10822 CNV gain 18304495
nsv10823 CNV loss 18304495
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv428141 CNV gain+loss 18775914
nsv508399 CNV deletion 20534489
nsv509126 CNV insertion 20534489
nsv601960 CNV loss 21841781
nsv601965 CNV loss 21841781
nsv823505 CNV loss 20364138
nsv830628 CNV loss 17160897

Variation tolerance for C2 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2 Gene

Human Gene Mutation Database (HGMD)
C2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2
Leiden Open Variation Database (LOVD)
C2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2 Gene

Disorders for C2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for C2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search C2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CO2_HUMAN
  • Macular degeneration, age-related, 14 (ARMD14) [MIM:615489]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:16518403}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Haplotype analyses have identified a statistically significant common risk haplotype and two protective haplotypes. CFB variant His-9 and C2 variant Asp-318, as well as CFB variant Gln-32 and a variant in intron 10 of C2, confer a significantly reduced risk of AMD. {ECO:0000269 PubMed:16518403}.
  • Complement component 2 deficiency (C2D) [MIM:217000]: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections. {ECO:0000269 PubMed:8621452, ECO:0000269 PubMed:9670930}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for C2 Gene

Henoch-Schönlein purpura susceptibility,lupus systemic discoid syndrome,polymyositis susceptibility (C2 deficiency,type I)

Additional Disease Information for C2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C2: view

Publications for C2 Gene

  1. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. (PMID: 16518403) Gold B … Allikmets R (Nature genetics 2006) 3 4 40 72
  2. A novel type II complement C2 deficiency allele in an African-American family. (PMID: 9670930) Zhu ZB … Volanakis JE (Journal of immunology (Baltimore, Md. : 1950) 1998) 3 4 22
  3. Structure of the human C2 gene. (PMID: 8326124) Ishii Y … Volanakis JE (Journal of immunology (Baltimore, Md. : 1950) 1993) 3 4 22
  4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 40
  5. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. (PMID: 21665990) Yu Y … Seddon JM (Human molecular genetics 2011) 3 40

Products for C2 Gene

Sources for C2 Gene