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Gene Symbol |
C4A |
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Aliases |
C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG |
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Entrez Gene ID |
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Gene Name |
Complement C4A (Rodgers blood group) |
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Chromosomal Location |
6p21.33 |
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HGNC ID |
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Summary |
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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
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) |
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Function |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000009530 |
P04233 |
P04233 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| Immunologic Deficiency Syndromes |
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| Antibody Deficiency Syndrome |
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References |
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| Galazis Nicolas, Pang Yik-Lam, Galazi Myria, Haoula Zeina, Layfield Robert, Atiomo William |
| Nottingham Medical School, University of Nottingham, Queen's Medical Centre Campus Nottingham University Hospital, Nottingham, UK. ngalazis@gmail.com |
| Gynecol Endocrinol. 2013 Jul;29(7):638-44. doi: 10.3109/09513590.2013.777416. |
Abstract
There is a need for research studies into the molecular mechanisms underpinning the link between polycystic ovary syndrome (PCOS) and endometrial cancer (EC) to facilitate screening and to encourage the development of novel strategies to prevent disease progression. The objective of this review was to identify proteomic biomarkers of EC risk in women with PCOS. All eligible published studies on proteomic biomarkers for EC identified through the literature were evaluated. Proteomic biomarkers for EC were then integrated with an updated previously published database of all proteomic biomarkers identified so far in PCOS women. Nine protein biomarkers were similarly either under or over expressed in women with EC and PCOS in various tissues. These include transgelin, pyruvate kinase M1/M2, gelsolin-like capping protein (macrophage capping protein), glutathione S-transferase P, leucine aminopeptidase (cytosol aminopeptidase), peptidyl-prolyl cis-transisomerase, cyclophilin A, complement component C4A and manganese-superoxide dismutase. If validated, these biomarkers may provide a useful framework on which the knowledge base in this area could be developed and will facilitate future mathematical modelling to enhance screening and prevention of EC in women with PCOS who have been shown to be at increased risk. |
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