Pemphigus vulgaris:
PMID # / Other autoimmune diseases : PMID#
“Disease”
PV-A + PV-R vs. MCR / ATP2C1 / 27032 / ATPase, Ca++ transporting, type 2C, member 1 / Belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP. Involved in delayed translocation of desmoplakin and desmoglein3 in desmosomes. / Pemphigus vulgaris (PV) 23505434 / Hailey–Hailey Disease 22639968; 22607350; 16297192; 12472547
GADD45A / 1647 / Growth arrest and DNA-damage-inducible, alpha / Responds to environmental stress and mediates activation of the p38/JNK pathway via mitogen-activated protein kinases which is essential for cell cycle, cytoskeletal remodeling and apoptosis. Involved in G2-M growth arrest / 22437316 / Systemic lupus erythematous: :20131288
G2-M growth arrest: 15262964
PTGS1 / 5742 / Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) / Involved in innate inflammatory responses, cell-cell signaling and maintaining tissue homeostasis. / Rheumatoid arthritis :10719816
CA2 / 760 / Carbonic anhydrase II / Catalyzes reversible hydration of carbon dioxide. / Ulcerative colitis : 11956656
Atopic dermatitis : 19818069
Psoriasis: 17363915;19818069
F5 / 2153 / Coagulation factor V (proaccelerin, labile factor) / This gene encodes an essential cofactor of the blood coagulation cascade. / Systemic lupus erythematous: 22707612
USP34 / 9736 / Ubiquitin specific peptidase 34 / Acts as a regulator of the Wnt signaling pathway. / 18199752 / Alopecia areata: 20535136
“Activity”
PV-A vs. PV-R / NOD2 / 64127 / Nucleotide-binding oligomerization domain containing 2 / A cytosolic pattern recognition receptor belonging to the innate immune system that has been shown to participate in the initiation of the adaptive immune response. / Crohn’s disease 17804789
Inflammatory bowel disease: 21912465
IL18 / 3606 / Interleukin 18 (interferon-gamma-inducing factor) / A pro-inflammatory cytokine that stimulates interferon gamma production in T-helper I cells. / Rheumatoid arthritis: 14738910
Crohn’s disease: 12572878
CARD9 / 64170 / Caspase recruitment domain family, member 9 / CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. / Inflammatory bowel disease: 21983784
DSC2 / 1824 / Desmocollin 2 / A calcium-dependent glycoprotein of the cadherin superfamily that participates in cell-cell adhesion and desmosome formation is of particular relevance since it has been suggested as a target for autoantibodies in PV. / 7706774; 8454900; 22437316; 17311292
OSM / 5008 / Oncostatin M / Oncostatin M is a multifunctional cytokine belonging to the interleukin-6 family of cytokines that includes leukemia-inhibitory factor, granulocyte colony-stimulating factor. It regulates cytokine production from endothelial cells. / 22437316 / Rheumatoid arthritis:9182920; 9135222;
Atopic dermatitis: 22137028; 22486751
SLC11A1 / 6556 / Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (NRAMP1) / The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. / 22437316 / Rheumatoid arthritis: 9058648;
Juvenile rheumatoid arthritis: 15641099
Crohn’s disease: 9288120
OLIG1 / 116448 / Oligodendrocyte transcription factor 1 / Basic domain, helix-loop-helix protein, class B, 6, oligodendrocyte transcription factor 1. / 22437316 / Multiple sclerosis: 16820418
CKAP4 / 10970 / Cytoskeleton-associated protein 4 / Mediates the anchoring of the endoplasmic reticulum to microtubules. Increased phosphorylation during mitosis prevents binding to microtubules. / Sjögren syndrome : 21655359
“Control”
MCR vs. UMCR / HSPA8 / 3312 / heat shock 70kDa protein 8 / It is part of the heat shock protein family which are involved in protection from stress caused by infection or inflammation and have been reported to be induced in keratinocyte cells by Pemphigus serum leading to programmed cell death / programmed cell death in keratinocytes by PV serum 15214891
“Protection”
MCR vs. PV-A + PV-R and MCR vs. UMCR / ARHGEF3 / 50650 / Rho guanine nucleotide exchange factor (GEF) 3 / A GTPase involved in the RhoA regulation pathway and involved in a variety of cellular processes. / Rheumatoid arthritis: 21452313
Multiple sclerosis(MS) : 21833088
IL13RA1 / 3597 / Interleukin 13 receptor, alpha 1 / Upstream cytokine receptor in the IL-13 and IL-4 immune response pathway. IL-13 is secreted by T helper type 2, and has effects on immune cells similar to the effects of IL-4, which has been shown to be associated with active disease in PV. / IL-4 in PV : 16045688 / Atopic dermatitis:
14527737; 21462799
Psoriasis:
12445201; 14527737
SMAD2 / 4087 / SMAD family member 2 / This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation.
Phosphorylation of SMAD2 (SMAD family member 2) has been shown to play a role in cytoskeleton remodeling, regulating keratinocyte migration and re-epithelization during wound healing
SMAD2 has also been demonstrated to regulate generation of IL-17 producing Th17 cells, a pathway recently recognized to be important in tissue inflammatory and autoimmune responses. / Atopic dermatitis:12615364
Inflammatory bowel disease:18949743
Sjogren’s syndrome: 19700754
Wound healing: 16354202
tissue inflammatory and autoimmune responses: 20667820
PTPN22 / 26191 / protein tyrosine phosphatase, non-receptor type 22 (lymphoid) / The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Regulates both T and B cell activity / PTPN22 not a risk factor in PV : 21585555 / Alopecia: 18028494
Psoriatic arthritis: 15934099
Rheumatoid arthritis: 15208781
Systemic lupus erythematous + Rheumatoid arthritis: 15641066
Autoimmune disease (AID): 15531553;15759012; 15883854
Crohn’s Disease: 18587394
Inflammatory bowel disease: 21983784
Systemic lupus erythematous: 22704547
CNPY3 / 10695 / canopy 3 homolog / It is associated with regulating the cell surface expression of TLR4 on dendritic cells and plays a fundamental role in activation of innate immunity and pathogen recognition / activation of innate immunity and pathogen recognition: 16849487
Supplementary Table 6. DEGs in Pemphigus vulgaris (PV) associated gene expression signatures linked to PV and other autoimmune/inflammatory diseases. Genes in red are up-regulated and in blue are down-regulated in the respective comparisons.
Running Title: Genome-wide expression analysis in Pemphigus vulgaris-Dey-Rao et al.