Human Gene C3 (ENST00000245907.11_8) from GENCODE V47lift37
  Description: complement C3 (from RefSeq NM_000064.4)
Gencode Transcript: ENST00000245907.11_8
Gencode Gene: ENSG00000125730.18_15
Transcript (Including UTRs)
   Position: hg19 chr19:6,677,715-6,720,661 Size: 42,947 Total Exon Count: 41 Strand: -
Coding Region
   Position: hg19 chr19:6,677,893-6,720,600 Size: 42,708 Coding Exon Count: 41 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:6,677,715-6,720,661)mRNA (may differ from genome)Protein (1663 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: C3
Diseases sorted by gene-association score: c3 deficiency* (1675), hemolytic uremic syndrome, atypical 5* (1256), macular degeneration, age-related, 9* (980), c3-related atypical hemolytic-uremic syndrome* (100), macular degeneration, age-related, 1* (36), hemolytic-uremic syndrome (30), membranoproliferative glomerulonephritis (24), complement deficiency (23), glomerulonephritis (23), arteriolosclerosis (21), c3 glomerulopathy (18), complement factor i deficiency (17), chronic monocytic leukemia (15), proliferative glomerulonephritis (13), dense deposit disease (13), eye disease (10), herpes simplex (9), tick-borne relapsing fever (9), acquired angioedema (9), c4a deficiency (9), hemoglobinuria (8), retinal drusen (8), pneumococcal meningitis (8), c1s deficiency (8), afibrinogenemia (8), afibrinogenemia, congenital (7), lyme disease (7), orthostatic proteinuria (7), gerstmann-straussler disease (7), paroxysmal nocturnal hemoglobinuria (7), hypersensitivity reaction type iii disease (7), systemic lupus erythematosus (6), phototoxic dermatitis (6), hypersensitivity vasculitis (6), neisseria meningitidis infection (6), lichen nitidus (6), membranous nephropathy (6), acute maxillary sinusitis (6), ascending cholangitis (6), lipoprotein lipase deficiency (6), dysbaric osteonecrosis (5), pediatric systemic lupus erythematosus (5), chronic maxillary sinusitis (5), lupus erythematosus (5), occupational dermatitis (5), henoch-schoenlein purpura (5), deafness, autosomal dominant 25 (5), lemierre's syndrome (5), rhizomelic chondrodysplasia punctata, type 2 (4), autoimmune disease of blood (4), obesity (3), vaccinia (3), heart disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1009.08 RPKM in Liver
Total median expression: 4423.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.3061-0.021 Picture PostScript Text
3' UTR -41.00178-0.230 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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Descriptions from all associated GenBank mRNAs
  BC150299 - Homo sapiens cDNA clone IMAGE:8860379, containing frame-shift errors.
BC063852 - Homo sapiens cDNA clone IMAGE:6184508, containing frame-shift errors.
BC150179 - Homo sapiens complement component 3, mRNA (cDNA clone MGC:164898 IMAGE:40148091), complete cds.
BC150200 - Homo sapiens complement component 3, mRNA (cDNA clone MGC:165040 IMAGE:40148812), complete cds.
EU794602 - Homo sapiens epididymis secretory sperm binding protein Li 62p (HEL-S-62p) mRNA, complete cds.
AK304071 - Homo sapiens cDNA FLJ57339 complete cds, highly similar to Complement C3 precursor.
BC022897 - Homo sapiens cDNA clone IMAGE:4714760, containing frame-shift errors.
K02765 - Human complement component C3 mRNA, alpha and beta subunits, complete cds.
MP282919 - Sequence 74 from Patent EP3526328.
AK094728 - Homo sapiens cDNA FLJ37409 fis, clone BRAMY2028516, highly similar to COMPLEMENT C3 PRECURSOR.
FU269668 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269678 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269677 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269670 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269681 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269673 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269675 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
FU269667 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
KC493376 - Homo sapiens clone TB1 complement component 3 (C3) pseudogene mRNA, partial sequence.
KC493377 - Homo sapiens clone TB2 complement component 3 (C3) pseudogene mRNA, partial sequence.
FU269671 - COMPOSITIONS AND METHODS FOR REGULATING COMPLEMENT SYSTEM.
AK299114 - Homo sapiens cDNA FLJ60818 complete cds, highly similar to Complement C3 precursor.
M55658 - Human complement C3 protein mRNA, 5' flank.
JD365117 - Sequence 346141 from Patent EP1572962.
JD226698 - Sequence 207722 from Patent EP1572962.
JD150363 - Sequence 131387 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_classicPathway - Classical Complement Pathway
h_LairPathway - Cells and Molecules involved in local acute inflammatory response
h_compPathway - Complement Pathway
h_alternativePathway - Alternative Complement Pathway
h_lectinPathway - Lectin Induced Complement Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000245907.1, ENST00000245907.10, ENST00000245907.2, ENST00000245907.3, ENST00000245907.4, ENST00000245907.5, ENST00000245907.6, ENST00000245907.7, ENST00000245907.8, ENST00000245907.9, HEL-S-62p , NM_000064, uc317ers.1, uc317ers.2, V9HWA9, V9HWA9_HUMAN
UCSC ID: ENST00000245907.11_8
RefSeq Accession: NM_000064.4

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene C3:
husa (Genetic Atypical Hemolytic-Uremic Syndrome)
mpgn (C3 Glomerulopathy)

-  Gene Model Information
  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.