Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 720
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol C4A   Gene   UCSC   Ensembl
Aliases C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG
Gene name complement C4A (Rodgers blood group)
Alternate names complement C4-A, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 2, C4A anaphylatoxin, MHC class III region complement, Rodgers form of C4, acidic C4, acidic complement C4, complement component 4A (Rodgers blood group),
Gene location 6p21.33 (31982056: 32002679)     Exons: 41     NC_000006.12
Gene summary(Entrez) This gene encodes the acidic form of complement factor 4, 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 is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
OMIM 120810

Protein Summary

Gene ontology


GO accessionTerm nameEvidence codeGo category

KEGG pathways

hsa05133  Pertussis
hsa04610  Complement and coagulation cascades
hsa05322  Systemic lupus erythematosus
hsa05150  Staphylococcus aureus infection

Diseases

Associated diseases References
C4a deficiency OMIM: 120810
Coronary syndrome atherosclerosis PMID: 17212707
Endometriosis PMID: 6208058
Graves disease PMID: 2570594
Schizophrenia KEGG: H01649
Systemic lupus erythematosus PMID: 17728371, KEGG: H00080
Endometriosis INFBASE6208058

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
6208058 Endometrio
sis

102 infertile p
atients with an
d without endom
etriosis
C3c and C4
Show abstract