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Gene Symbol |
S100A12 |
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Aliases |
CAAF1, CAGC, CGRP, ENRAGE, MRP-6, MRP6, p6 |
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Entrez Gene ID |
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Gene Name |
S100 calcium binding protein A12 |
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Chromosomal Location |
1q21.3 |
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HGNC ID |
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Summary |
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]
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e!Ensembl
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Protein Information |
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Protein Name |
Protein S100-A12, EN-RAGE, calcitermin, calcium-binding protein in amniotic fluid 1, calgranulin C, extracellular newly identified RAGE-binding protein, migration inhibitory factor-related protein 6, neutrophil S100 protein |
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Function |
S100A12 is a calcium-, zinc- and copper-binding protein which plays a prominent role in the regulation of inflammatory processes and immune response. Its proinflammatory activity involves recruitment of leukocytes, promotion of cytokine and chemokine production, and regulation of leukocyte adhesion and migration. Acts as an alarmin or a danger associated molecular pattern (DAMP) molecule and stimulates innate immune cells via binding to receptor for advanced glycation endproducts (AGER). Binding to AGER activates the MAP-kinase and NF-kappa-B signaling pathways leading to production of proinflammatory cytokines and up-regulation of cell adhesion molecules ICAM1 and VCAM1. Acts as a monocyte and mast cell chemoattractant. Can stimulate mast cell degranulation and activation which generates chemokines, histamine and cytokines inducing further leukocyte recruitment to the sites of inflammation. Can inhibit the activity of matrix metalloproteinases; MMP2, MMP3 and MMP9 by chelating Zn(2+) from their active sites. Possesses filariacidal and filariastatic activity. Calcitermin possesses antifungal activity against C.albicans and is also active against E.coli and P.aeruginosa but not L.monocytogenes and S.aureus |
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UniProt |
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PDB |
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Pfam |
Pfam Accession |
Pfam ID |
PF01023 |
S_100 |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000357726 |
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P80511 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Kawasaki disease |
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Cardiovascular Diseases |
Atherosclerosis |
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Pulmonary Hypertension |
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Cardiovascular Abnormalities |
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Acute Coronary Syndrome |
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Aortic valve calcification |
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Aortic Aneurysm |
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Heart Failure |
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Coronary heart disease |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Hemorrhages |
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Digestive System Diseases |
Pancreatitis |
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Biliary Cirrhosis |
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Inflammatory Bowel Diseases |
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Colitis |
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Ear Or Mastoid Diseases |
Otitis |
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Endocrine System Diseases |
PCOS |
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Eye Diseases |
Uveitis |
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Immune System Diseases |
Juvenile arthritis |
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Musculoskeletal Diseases |
Osteolysis |
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Blau Syndrome |
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Osteoarthritis |
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Synovitis |
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Neoplasms |
Gastric Cancer |
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Bladder Cancer |
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Multiple Sclerosis |
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Skin Fibrosis |
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Carcinoma |
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Nervous System Diseases |
Huntington Disease |
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Carotid Artery Diseases |
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Brain Infarction |
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Transient Ischemic Attack |
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Stroke |
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Nutritional and Metabolic Diseases |
Hypercholesterolemia |
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Renal Disorder |
Kidney Insufficiency |
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Reproductive disorders |
Infertility |
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Respiratory Tract Diseases |
Pulmonary Edema |
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Pulmonary Tuberculosis |
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Pneumonia |
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Skin and Connective Tissue Diseases |
Psoriasis |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, Inflammation |
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Rotterdam Criteria |
Direct
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8 PCOS Subjects and 8 Controls |
We conducted the peripheral-blood transcriptome in PCOS using microarray and identified dysregulated genes involved in inflammatory response. Our data strongly supported the notion that systemic rather than a local inflammatory response is implicated in the etiology of PCOS. |
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