Human Gene C2 (uc011hbu.2) Description and Page Index
  Description: Homo sapiens complement component 2 (C2), transcript variant 4, non-coding RNA.
Transcript (Including UTRs)
   Position: chr6_mann_hap4:3,244,196-3,256,269 Size: 12,074 Total Exon Count: 13 Strand: +
Coding Region
   Position: chr6_mann_hap4:3,244,259-3,255,954 Size: 11,696 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: B4DQI1_HUMAN
DESCRIPTION: SubName: Full=Complement C2b fragment; SubName: Full=cDNA FLJ54376, highly similar to Complement C2 (EC 3.4.21.43);
SIMILARITY: Belongs to the peptidase S1 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: C2
CDC HuGE Published Literature: C2
Positive Disease Associations: C2-deficiency gene , Carcinoma, Hepatocellular , Cross Infection|Pneumonia, Ventilator-Associated|Wounds and Injuries , Diabetes Mellitus, Type 1 , Hepatitis B Vaccines , Lupus Erythematosus, Systemic , macular degeneration , Multiple Sclerosis , Psoriasis
Related Studies:
  1. C2-deficiency gene
    Poncet D et al. 1982, Association of the C2-deficiency gene (C2*QO) with the C4A*4 C4B*2 genes., Journal of immunogenetics. 1982 Apr;9(2):127-32. [PubMed 7086154]
  2. Carcinoma, Hepatocellular
    Robert J Clifford et al. Hepatology (Baltimore, Md.) 2010, Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma., Hepatology (Baltimore, Md.). [PubMed 21105107]
  3. Cross Infection|Pneumonia, Ventilator-Associated|Wounds and Injuries
    John A Morris , et al. The Journal of trauma 2009 66(5):1265-70; discussion 1270-2, Genetic variation in complement component 2 of the classical complement pathway is associated with increased mortality and infection: a study of 627 patients with trauma., The Journal of trauma 2009 66(5):1265-70; discussion 1270-2. [PubMed 19430225]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.8063-0.378 Picture PostScript Text
3' UTR -81.20315-0.258 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001254 - Peptidase_S1
IPR018114 - Peptidase_S1_AS
IPR001314 - Peptidase_S1A
IPR009003 - Trypsin-like_Pept_dom
IPR002035 - VWF_A

Pfam Domains:
PF00089 - Trypsin
PF00092 - von Willebrand factor type A domain

SCOP Domains:
50494 - Trypsin-like serine proteases
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on B4DQI1
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AK312581 - Homo sapiens cDNA, FLJ92956, Homo sapiens complement component 2 (C2), mRNA.
AK304045 - Homo sapiens cDNA FLJ55673 complete cds, highly similar to Complement factor B precursor (EC 3.4.21.47).
BC029781 - Homo sapiens complement component 2, mRNA (cDNA clone IMAGE:5183067), complete cds.
AK300892 - Homo sapiens cDNA FLJ54076 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
X04481 - Human mRNA for complement component C2.
AK307930 - Homo sapiens cDNA, FLJ97878.
AK222537 - Homo sapiens mRNA for complement component 2 precursor variant, clone: adSE01995.
AK300930 - Homo sapiens cDNA FLJ55526 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
BC043484 - Homo sapiens complement component 2, mRNA (cDNA clone MGC:49826 IMAGE:5763774), complete cds.
AK222783 - Homo sapiens mRNA for complement component 2 precursor variant, clone: HEP01788.
AK298808 - Homo sapiens cDNA FLJ54376 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
AK096258 - Homo sapiens cDNA FLJ38939 fis, clone NT2NE2015747, highly similar to COMPLEMENT C2 PRECURSOR (EC 3.4.21.43).
AK298311 - Homo sapiens cDNA FLJ59728 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
BX537504 - Homo sapiens mRNA; cDNA DKFZp779M0311 (from clone DKFZp779M0311).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04610 - Complement and coagulation cascades
hsa05322 - Systemic lupus erythematosus

BioCarta from NCI Cancer Genome Anatomy Project
h_compPathway - Complement Pathway
h_classicPathway - Classical Complement Pathway
h_lectinPathway - Lectin Induced Complement Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: B4DQI1, B4DQI1_HUMAN, NR_073063
UCSC ID: uc011hbu.2
RefSeq Accession: NR_073063
Protein: B4DQI1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NR_073063.1
exon count: 13CDS single in 3' UTR: no RNA size: 2086
ORF size: 1521CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3242.00frame shift in genome: no % Coverage: 91.04
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.