Human Gene C4A (ENST00000375295.8) from GENCODE V44
  Description: Homo sapiens complement C4A (Rodgers blood group) (C4A), transcript variant 1, mRNA. (from RefSeq NM_007293)
RefSeq Summary (NM_001002029): This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000435363.7/ ENSP00000415941.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000375295.8
Gencode Gene: ENSG00000244207.8
Transcript (Including UTRs)
   Position: hg38 chr6_GL000252v2_alt:3,229,797-3,250,455 Size: 20,659 Total Exon Count: 41 Strand: +
Coding Region
   Position: hg38 chr6_GL000252v2_alt:3,229,881-3,250,314 Size: 20,434 Coding Exon Count: 41 

Page IndexSequence and LinksPrimersMalaCardsCTDMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6_GL000252v2_alt:3,229,797-3,250,455)mRNA (may differ from genome)Protein (1744 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid 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: C4A
Diseases sorted by gene-association score: c4a deficiency* (919), immunodeficiency due to a classical component pathway complement deficiency* (247), lupus erythematosus (36), felty syndrome (31), systemic lupus erythematosus (25), c4b deficiency (13), systemic lupus erythematosus 16* (12), herpes gestationis (11), capillary leak syndrome (11), mucinoses (10), neonatal lupus erythematosus (10), c2 deficiency (10), immunoglobulin alpha deficiency (10), congenital adrenal hyperplasia (10), complement deficiency (9), acute endophthalmitis (9), glomerulonephritis (8), membranoproliferative glomerulonephritis (7), adult respiratory distress syndrome (7), herpangina (6), hereditary angioedema (6), pediatric systemic lupus erythematosus (6), behcet syndrome* (6), purulent endophthalmitis (6), hydrarthrosis (6), hypersensitivity reaction type iii disease (6), indeterminate leprosy (6), juvenile dermatitis herpetiformis (6), hand, foot and mouth disease (6), hypersensitivity vasculitis (5), adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete (5), trichorhinophalangeal syndrome, type i (4), diabetes mellitus, insulin-dependent (2), schizophrenia (2)
* = Manually curated disease association

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

+  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 -27.8084-0.331 Picture PostScript Text
3' UTR -48.60141-0.345 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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK307198 - Homo sapiens cDNA, FLJ97146.
BC063289 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone MGC:71601 IMAGE:5289068), complete cds.
JD062761 - Sequence 43785 from Patent EP1572962.
AK295554 - Homo sapiens cDNA FLJ60561 complete cds, highly similar to Complement C4-B precursor.
AK293191 - Homo sapiens cDNA FLJ55146 complete cds, highly similar to Complement C4-B precursor.
AK304564 - Homo sapiens cDNA FLJ54406 complete cds, highly similar to Complement C4-B precursor.
AB209989 - Homo sapiens mRNA for C4A variant protein, clone: ah00377.
BC146673 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone MGC:164979 IMAGE:40148477), complete cds.
BC151204 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone MGC:164734 IMAGE:40147083), complete cds.
AK293364 - Homo sapiens cDNA FLJ53025 complete cds, highly similar to Complement C4-B precursor.
BC144546 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone MGC:178090 IMAGE:9053073), complete cds.
BC146849 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone MGC:181952 IMAGE:9056777), complete cds.
BC171786 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone MGC:198501 IMAGE:9054440), complete cds.
AB384706 - Synthetic construct DNA, clone: pF1KB1488, Homo sapiens C4A gene for complement C4-B precursor, complete cds, without stop codon, in Flexi system.
BC172377 - Synthetic construct Homo sapiens clone IMAGE:100069071, MGC:199082 complement component 4B (Chido blood group) (C4B) mRNA, encodes complete protein.
K02403 - Human complement component C4A mRNA, complete cds.
K02404 - Human complement component C4B mRNA, partial.
V00502 - Human mRNA fragment encoding the complement component C4.
K00830 - human complement fourth component (c4) gamma chain (codons 1-27).
BC016933 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone IMAGE:4186901), with apparent retained intron.
S81585 - ZA {region between exons 35 and 36 of the complement component C4 ge} [human, fetal adrenal gland, mRNA, 830 nt].
BC012372 - Homo sapiens complement component 4A (Rodgers blood group), mRNA (cDNA clone IMAGE:4186970), partial cds.
JD398240 - Sequence 379264 from Patent EP1572962.
JD073596 - Sequence 54620 from Patent EP1572962.
JD133671 - Sequence 114695 from Patent EP1572962.
JD454477 - Sequence 435501 from Patent EP1572962.

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

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0G2JPR0, ENST00000375295.1, ENST00000375295.2, ENST00000375295.3, ENST00000375295.4, ENST00000375295.5, ENST00000375295.6, ENST00000375295.7, NM_007293, uc302wjl.1
UCSC ID: ENST00000375295.8
RefSeq Accession: NM_001002029

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