Gene |
Number of Cancers |
Annotation |
MYELIN OLIGODENDROCYTE GLYCOPROTEIN |
35 |
Neuro Tumors |
LIPOPOLYSACCHARIDE BINDING PROTEIN |
34 |
inflammatory; antimicrobial peptide LL-37 or Hcap 18 is a precursor. |
CATHELICIDIN ANTIMICROBIAL PEPTIDE |
34 |
Vascular Proliferation |
POLYMERIC IMMUNOGLOBULIN RECEPTOR |
33 |
Transports Immunoglobulin across cell membranes |
TELOMERASE REVERSE TRANSCRIPTASE |
32 |
Essential for transformation but inable to accomplish conversion on its own |
DIHYDROPYRIMIDINE DEHYDROGENASE |
31 |
Degrades 5-FU, deficiency leads to medulloblastoma, (Diasio - Auto Recessive Inheritance) |
ORNITHINE CARBAMOYLTRANSFERASE |
30 |
Trans-species; proliferation associated; Chemoprevention which can be an inhibitor of OTC (DMFO) |
GASTRIC INHIBITORY POLYPEPTIDE |
30 |
glucose-dependent insulinotropic polypeptide |
HYPERGONADOTROPIC HYPOGONADISM |
30 |
hypogonadism with elevated gonadotropins |
UROPORPHYRINOGEN DECARBOXYLASE |
30 |
PORPHYRIA CUTANEA TARDA |
ASIALOGLYCOPROTEIN RECEPTOR 1 |
29 |
Hepatic Cell signaling - to Endoplasmic Reticulum |
VASOACTIVE INTESTINAL PEPTIDE |
29 |
VIP promotes TH2 differentiation and inhibits TH1 responses by regulating macrophage costimulatory signals and probably IL12/IFN-gamma production; Decreases with Age. |
PHOSPHOLIPID TRANSFER PROTEIN |
29 |
polymorphisms caused decreased HDL; transcription factor-binding motifs, SP1 and AP-2 |
DIHYDROOROTATE DEHYDROGENASE |
28 |
catalyzes the fourth enzymatic step in de novo pyrimidine biosynthesis; For cell replication. |
CILIARY NEUROTROPHIC FACTOR |
27 |
Errors cause Weight Gain; some earlier presentation of ALS |
ARYL HYDROCARBON RECEPTOR |
25 |
Halogenated aromatic hydrocarbons cause cancer mediated by the enzme produced by this gene; basic helix-loop-helix/PAS family transcription factors;regulates the effects of Estrogen Receptors |
BREAKPOINT CLUSTER REGION |
25 |
CML |
PHENYLALANINE HYDROXYLASE |
25 |
PKU |
PHOSPHOGLYCERATE KINASE 1 |
25 |
functions in glycolysis but is secreted by tumor cells and participates in the angiogenic process as a disulfide reductase; anti-angiogenic and slows tumor growth; deficiency causes hemolytic anemia |
ISLET AMYLOID POLYPEPTIDE |
25 |
diabetes Mellitus type 1 and 2, Insulinoma, |
CHOLINE ACETYLTRANSFERASE |
25 |
deficiency causes myasthenic symptoms |
NUCLEOSIDE PHOSPHORYLASE |
24 |
deficiency led to lymphoma, lymphopenia, |
LEUKOTRIENE A4 HYDROLASE |
24 |
inflammatory mediator, rarely in African Americans |
GLUTATHIONE PEROXIDASE 1 |
24 |
Hemolytic Anemia, 6 copy repeats associated with myeloid leukemias |
PROSTAGLANDIN E SYNTHASE |
24 |
A p53 induced gene; PIG12 gene (synonym) encodes a microsomal glutathione S-transferase; is anti-inflammatory and can lead to apoptosis. Can improve Hepatocellular carcinoma by blocking PG1 and PG3 receptors. |
ERYTHROPOIETIN RECEPTOR |
23 |
proerythroblast cell lines that expressed Epor and had rearranged and inactivated expression of the p53 suppressor oncogene |
GROWTH HORMONE RECEPTOR |
23 |
leading to synthesis and secretion of insulin-like growth factor I ; GHR belongs to the cytokine superfamily of receptors that depend on JAK tyrosine kinases (see 147795) for activation of STATs |
MELANOCORTIN 4 RECEPTOR |
23 |
decreases body weight. |
LEUKOTRIENE C4 SYNTHASE |
23 |
potent lipid mediators of tissue inflammation |
ARGININOSUCCINATE LYASE |
23 |
deficiency results in defective cleavage of Argininosuccinic acid (ASA), a precursor to fumarate in the citric acid cycle, which causes accumulation of ASA in cells and an excessive excretion of ASA in urine (arginosuccinic aciduria). Deficiency characterized by hyperammonemia in affected individuals. |
HISTIDINE DECARBOXYLASE |
23 |
the only histamine-synthesizing enzyme; mouse models w/ gene removed are characterized by undetectable tissue histamine levels. |
DIHYDROFOLATE REDUCTASE |
23 |
converts Dihydrofolic acid (vitamin B9), which interacts with bacteria during cell division and can be targeted with drug analogs to prevent nucleic acid synthesis, to tetrahydrofolic acid. |
ADENOSINE A2A RECEPTOR |
22 |
a potent biologic mediator that modulates the activity of numerous cell types, including various neuronal populations, platelets, neutrophils and mast cells, and smooth muscle cells in bronchi and vasculature, helping to protect cells and tissues during stress situations such as ischemia. Abundant in basal ganglia, vasculature and platelets, and stimulates adenylyl cyclase. It is a major target of caffeine. Knockout mouse models show reduced exploratory activity, and caffeine, which normally stimulates exploratory behavior, became a depressant of exploratory activity. They scored higher in anxiety tests, and male mice were more aggressive toward intruders. Their response to acute pain stimuli was slower. Blood pressure and heart rate were increased, as well as platelet aggregation. The specific A2a agonist CGS 21680 lost its biologic activity in all systems tested. |
TRANSFERRIN RECEPTOR 2 |
22 |
Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Defects in TFR2 are a cause of hereditary hemochromatosis type 3 (HFE3) [MIM:604250]. HFE3 is a disorder of iron hemostasis resulting in iron overload and has a phenotype indistinguishable from that of hereditary hemochromatosis (HH). HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects. |
INTERLEUKIN 4 RECEPTOR |
22 |
mutation has been associated with increased IgE production and allergic airway inflammation |
INTERLEUKIN 6 RECEPTOR |
22 |
patients with allergic asthma had increased levels of soluble IL6R (sIL6R) in their airways compared with controls |
PROMYELOCYTIC LEUKEMIA |
22 |
regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia |
PANCREATIC POLYPEPTIDE |
22 |
may be important in regulation of food intake; genetically obese laboratory animals have altered PPY release and in New Zealand obese mice weight gain can be cured by infusion of PPY. Children with Prader-Willi syndrome have blunted secretion of PPY |
THYMIDYLATE SYNTHETASE |
22 |
enzyme used to generate thymidine monophosphate (dTMP), which is subsequently phosphorylated to thymidine triphosphate for use in DNA synthesis and repair |
DEOXYHYPUSINE SYNTHASE |
22 |
inhibition suppresses retroviral replication in cell culture and primary cells with no measurable drug-induced adverse effects on cell cycle transition, apoptosis, or general cytotoxicity. |
XANTHINE DEHYDROGENASE |
22 |
Xdh-null mice were runted and did not live beyond 6 weeks of age. Xdh heterozygous females, although healthy and fertile, were unable to maintain lactation, and their pups died of starvation 2 weeks postpartum. Histologic analysis showed that, in heterozygous females, the mammary epithelium had collapsed, resulting in premature involution of the mammary gland. Electron microscopy showed that Xdh was specifically required for enveloping milk fat droplets with the apical plasma membrane prior to secretion from the lactating mammary gland. |
SORBITOL DEHYDROGENASE |
22 |
converts sorbitol to fructose and sorbitol is implicated in diabetic cataracts |
SPLEEN TYROSINE KINASE |
22 |
SYK is activated by oxidative stress; putative tumor suppressor; role in the differentiation of B-cells and many other cell types; inactivated by hyper-methylation. Found to be inactivated in a subset of breast cancer. also prevalent in a case of myelodysplastic syndrome. |
ANKYLOSING SPONDYLITIS |
22 |
mainly affects joints in the spine and the sacroilium in the pelvis, and can cause eventual fusion of the spine. |
EOSINOPHIL PEROXIDASE |
21 |
patially responsible for tissue remodeling; provides mechanism by which eosinophils kill multicellular parasites (eg, the nematode worms involved in filariasis); and also certain bacteria (eg tuberculosis bacteria) |
HYALURONAN SYNTHASE 3 |
21 |
regulator of hyaluronan synthesis, major constituent of extracellular matrix |
ADENOSINE A3 RECEPTOR |
21 |
expressed at high levels in the vascular smooth muscle layer of normal mouse aortas. knockout mice showed blood pressure comparable to WT, but aorta and heart cAMP levels were elevated. When challenged with adenosine, the KO mice showed further increased cAMP levels in the heart and vascular smooth muscle, and a significant decrease in blood pressure. |
HISTONE DEACETYLASE 2 |
21 |
KO mice are characterized by partially penetrant embryonic lethality, with abnormalities of myocyte proliferation and differentiation apparent during late gestation |
HISTONE DEACETYLASE 4 |
21 |
regulates chondrocyte hypertrophy and endochondral bone formation in mice by interacting with and inhibiting the activity of Runx2 (600211), a transcription factor necessary for chondrocyte hypertrophy |
