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

Table 1: Top 50 Genes associated with Multiple Cancer Tissue Types and their annotations.