Summary of top-ranked genes
| Gene (aliases)* . | Chromosome . | Gene ID no.* . | Gene description* . | Gene Ontology (GO) . | Comments . | Selected references . |
|---|---|---|---|---|---|---|
| B3GNT3 (TMEM3) | 19p13.1 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucos-aminyltransferase 3 | Protein amino acid glycosylation | B3GNT3 encodes for beta-1,3-N-acetylglucosaminyltransferase 3, an enzyme that is classified as a type II transmembrane protein. B3GNT3 is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. B3GNT3 also plays dominant roles in L-selectin ligand biosynthesis, which is important for lymphocyte homing and trafficking. | 20,–22 |
| BAT2 | 6p21.3 | 7916 | HLA-B associated transcript 2 | Protein binding | Part of a cluster of genes (BAT1-BAT5) in the HLA complex class III region (in vicinity of TNF and LTA). Gene has been associated with insulin-dependent diabetes and rheumatoid arthritis risk and response to therapy. | 23,–25 |
| CREB1 | 2q32.3–34 | 1385 | cAMP responsive element binding protein 1 | Regulation of transcription; signal transduction; regulation of cell size | Transcription factor that participates in a variety of cellular processes, including growth factor-dependent survival and proliferation, as well as glucose homeostasis. Proto-oncogene for clear cell soft tissue sarcoma, AML, T-cell leukemias, follicular and transformed NHL, and myeloproliferative disease. CREB binds CRE site in the promoter of translocated bcl-2 in FL with t14;18 translocations. | 26,,,–30 |
| DUSP2 (PAC1) | 2q11 | 1844 | Dual specificity phosphatase 2 | Inactivation of MAPK activity; protein AA dephosphorylation | DUSP2 is a member of the dual specificity protein phosphatase subfamily, which negatively regulates members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38). DUSP2 is predominantly expressed in hematopoietic lineages. Reduction of DUSP2 transcription using small interfering RNA inhibits p53-mediated apoptosis, whereas overexpression of DUSP2 increases susceptibility to apoptosis and suppresses tumor formation. DUSP2 knock out mice show reduced cytokine production and are protected from inflammatory arthritis. | 31,,,–35 |
| FGG | 4q28 | 2266 | Fibrinogen gamma chain | Blood pressure regulation; platelet activation; positive regulation of cell proliferation; protein polymerization; signal transduction | FGG encodes gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of non-identical polypeptide chains. Important role in tissue repair by providing an initial matrix that can stabilize wound fields and support local cell proliferation and migration. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia; polymorphisms have been associated with serum fibrinogen levels. | 36,–38 |
| ITGB3 (CD61) | 17q21.32 | 3690 | Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | Blood coagulation; cell adhesion; cell-matrix adhesion; development; integrin-mediated signaling pathway | Integrins are cell-surface proteins composed of an alpha and beta chain; they participate in cell adhesion and cell-surface mediated signaling. ITGB3 codes for glycoprotein IIIa (GPIIIa), and along with alpha IIb chain forms the platelet adhesive protein receptor complex glycoprotein IIb/IIIa. It is also the beta subunit found in the fibronectin and vitronectin receptors. ITGB3 rs5918 results in a substitution (Leu33Pro) which has been associated with risk of ovarian and breast cancer and melanoma. | 39 |
| LSP1 | 11p15.5 | 4046 | Lymphocyte-specific protein 1 | Cell motility; cellular defense response; signal transduction | LSP1 encodes an intracellular F-actin binding protein, which is expressed in lymphocytes, neutrophils, macrophages and endothelium. Appears to regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. | 40 |
| MAP3K5 (ASK1) | 6q22.33 | 4217 | MAPK kinase kinase | MAPK kinase kinase cascade; activation of JNK activity; apoptosis; response to stress | MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. MAP3K5 is an upstream activator of c-Jun N-terminal kinase (JNK) and p38 mitogen-activated protein kinase signaling cascades. Overexpression of ASK1 induced apoptotic cell death, and ASK1 was activated in cells treated with TNF-α. | 41,–43 |
| RIPK3 (RIP3) | 14q11.2 | 11035 | Receptor-interacting serine-threonine kinase 3 | Apoptosis; protein amino acid phosphorylation; signal transduction | Gene product is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. RIPK3 is a component of the TNFR1 signaling complex, and can induce apoptosis and weakly activate the NF-κB transcription factor. A splice variant is increased in colon and lung tumors relative to matched normals. | 44,–46 |
| SELPLG (CD162, PSGL1) | 12q24 | 6404 | Selectin P ligand | Cell adhesion | Selectin P ligand (also know as P-selectin glycoprotein ligand) is the high affinity counter-receptor for P-selectin on myeloid cells and stimulated T lymphocytes. Plays a critical role in the tethering of these cells to activated platelets or endothelial cells expressing P-selectin. PSGL-1 enhances tyrosine phosphorylation, activates ERK-1 and ERK-2 through MEK (MAP kinase kinase), and stimulates IL-8 secretion in neutrophils. | 47–48 |
| TLR6 | 4p14 | 10333 | Toll-like receptor 6 | T-helper 1 type immune response; activation of NF-kappaB-inducing kinase; defense response to bacterium; innate immune response; macrophage activation | Member of the IL-1R superfamily; TLR6 is a member of the TLR2 subfamily, and forms a heterodimer with TLR2. TLRs recognize conserved motifs of microbial origin (pathogen-associated molecular patterns, PAMPs). Activation of TLR2/6 results in secretion of pro-inflammatory cytokines. TLR6 expression has been demonstrated in mast cells, monocytes, and platelets. | 49,– |
| TRAF1 | 9q33-q34 | 7185 | TNF receptor-associated factor 1 | Protein complex assembly; regulation of apoptosis; signal transduction | Member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF1 and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB; this complex also mediates the anti-apoptotic signals from TNF receptors. Elevated TRAF1 expression in NHL and CLL. | 52,,,–56 |
| UNC84B (KIAA0668, SUN2) | 22q13.1 | 25777 | unc-84 homolog B (C elegans) | Mitotic spindle organization and biogenesis; nuclear migration | UNC84B, also known as SUN2, codes for a mammalian inner nuclear membrane protein. Sun1 and Sun2 may form a physical interaction between the nuclear envelope and centrosome. | 57–58 |
| Gene (aliases)* . | Chromosome . | Gene ID no.* . | Gene description* . | Gene Ontology (GO) . | Comments . | Selected references . |
|---|---|---|---|---|---|---|
| B3GNT3 (TMEM3) | 19p13.1 | 10331 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucos-aminyltransferase 3 | Protein amino acid glycosylation | B3GNT3 encodes for beta-1,3-N-acetylglucosaminyltransferase 3, an enzyme that is classified as a type II transmembrane protein. B3GNT3 is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. B3GNT3 also plays dominant roles in L-selectin ligand biosynthesis, which is important for lymphocyte homing and trafficking. | 20,–22 |
| BAT2 | 6p21.3 | 7916 | HLA-B associated transcript 2 | Protein binding | Part of a cluster of genes (BAT1-BAT5) in the HLA complex class III region (in vicinity of TNF and LTA). Gene has been associated with insulin-dependent diabetes and rheumatoid arthritis risk and response to therapy. | 23,–25 |
| CREB1 | 2q32.3–34 | 1385 | cAMP responsive element binding protein 1 | Regulation of transcription; signal transduction; regulation of cell size | Transcription factor that participates in a variety of cellular processes, including growth factor-dependent survival and proliferation, as well as glucose homeostasis. Proto-oncogene for clear cell soft tissue sarcoma, AML, T-cell leukemias, follicular and transformed NHL, and myeloproliferative disease. CREB binds CRE site in the promoter of translocated bcl-2 in FL with t14;18 translocations. | 26,,,–30 |
| DUSP2 (PAC1) | 2q11 | 1844 | Dual specificity phosphatase 2 | Inactivation of MAPK activity; protein AA dephosphorylation | DUSP2 is a member of the dual specificity protein phosphatase subfamily, which negatively regulates members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38). DUSP2 is predominantly expressed in hematopoietic lineages. Reduction of DUSP2 transcription using small interfering RNA inhibits p53-mediated apoptosis, whereas overexpression of DUSP2 increases susceptibility to apoptosis and suppresses tumor formation. DUSP2 knock out mice show reduced cytokine production and are protected from inflammatory arthritis. | 31,,,–35 |
| FGG | 4q28 | 2266 | Fibrinogen gamma chain | Blood pressure regulation; platelet activation; positive regulation of cell proliferation; protein polymerization; signal transduction | FGG encodes gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of non-identical polypeptide chains. Important role in tissue repair by providing an initial matrix that can stabilize wound fields and support local cell proliferation and migration. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia; polymorphisms have been associated with serum fibrinogen levels. | 36,–38 |
| ITGB3 (CD61) | 17q21.32 | 3690 | Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | Blood coagulation; cell adhesion; cell-matrix adhesion; development; integrin-mediated signaling pathway | Integrins are cell-surface proteins composed of an alpha and beta chain; they participate in cell adhesion and cell-surface mediated signaling. ITGB3 codes for glycoprotein IIIa (GPIIIa), and along with alpha IIb chain forms the platelet adhesive protein receptor complex glycoprotein IIb/IIIa. It is also the beta subunit found in the fibronectin and vitronectin receptors. ITGB3 rs5918 results in a substitution (Leu33Pro) which has been associated with risk of ovarian and breast cancer and melanoma. | 39 |
| LSP1 | 11p15.5 | 4046 | Lymphocyte-specific protein 1 | Cell motility; cellular defense response; signal transduction | LSP1 encodes an intracellular F-actin binding protein, which is expressed in lymphocytes, neutrophils, macrophages and endothelium. Appears to regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. | 40 |
| MAP3K5 (ASK1) | 6q22.33 | 4217 | MAPK kinase kinase | MAPK kinase kinase cascade; activation of JNK activity; apoptosis; response to stress | MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. MAP3K5 is an upstream activator of c-Jun N-terminal kinase (JNK) and p38 mitogen-activated protein kinase signaling cascades. Overexpression of ASK1 induced apoptotic cell death, and ASK1 was activated in cells treated with TNF-α. | 41,–43 |
| RIPK3 (RIP3) | 14q11.2 | 11035 | Receptor-interacting serine-threonine kinase 3 | Apoptosis; protein amino acid phosphorylation; signal transduction | Gene product is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. RIPK3 is a component of the TNFR1 signaling complex, and can induce apoptosis and weakly activate the NF-κB transcription factor. A splice variant is increased in colon and lung tumors relative to matched normals. | 44,–46 |
| SELPLG (CD162, PSGL1) | 12q24 | 6404 | Selectin P ligand | Cell adhesion | Selectin P ligand (also know as P-selectin glycoprotein ligand) is the high affinity counter-receptor for P-selectin on myeloid cells and stimulated T lymphocytes. Plays a critical role in the tethering of these cells to activated platelets or endothelial cells expressing P-selectin. PSGL-1 enhances tyrosine phosphorylation, activates ERK-1 and ERK-2 through MEK (MAP kinase kinase), and stimulates IL-8 secretion in neutrophils. | 47–48 |
| TLR6 | 4p14 | 10333 | Toll-like receptor 6 | T-helper 1 type immune response; activation of NF-kappaB-inducing kinase; defense response to bacterium; innate immune response; macrophage activation | Member of the IL-1R superfamily; TLR6 is a member of the TLR2 subfamily, and forms a heterodimer with TLR2. TLRs recognize conserved motifs of microbial origin (pathogen-associated molecular patterns, PAMPs). Activation of TLR2/6 results in secretion of pro-inflammatory cytokines. TLR6 expression has been demonstrated in mast cells, monocytes, and platelets. | 49,– |
| TRAF1 | 9q33-q34 | 7185 | TNF receptor-associated factor 1 | Protein complex assembly; regulation of apoptosis; signal transduction | Member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF1 and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB; this complex also mediates the anti-apoptotic signals from TNF receptors. Elevated TRAF1 expression in NHL and CLL. | 52,,,–56 |
| UNC84B (KIAA0668, SUN2) | 22q13.1 | 25777 | unc-84 homolog B (C elegans) | Mitotic spindle organization and biogenesis; nuclear migration | UNC84B, also known as SUN2, codes for a mammalian inner nuclear membrane protein. Sun1 and Sun2 may form a physical interaction between the nuclear envelope and centrosome. | 57–58 |
As defined in Entrez Gene.