Methylated Gene

Name as on Gene Cards

Entrez Gene Summary

ALDH1A3

Aldehyde dehydrogenase enzyme

Associated with microphthalmia; detected in tumor cells

ANXA5

Annexin 5 gene

Implicated in many obstetric complications

APC

Adenomatosis Polyposis Coli

Colorectal cancers

AREG

Amphiregulin

Various types of cancers and inflammatory conditions

BCL2L10

BCL2 Like 10

Involved in many cellular activities like anti- or pro-apoptotic regulators

BNIP3

BCL2 Interacting Protein 3

Silenced in tumors by DNA methylation

BRCA1

Breast And Ovarian Cancer Susceptibility Protein 1

Modulating the subcellular localization; disease-associated mutations; transcription; recombination; DNA repair of double-stranded breaks

CCND2

Cyclin D2

Cell cycle G1/S transition; germ cell proliferation; ovarian and testicular tumors; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 

CDH1

Cadherin 1

Gastric, colorectal, breast, thyroid and ovarian cancer.

CDH2

Cadherin 2

Development of the nervous system; establishment of left-right asymmetry; formation of cartilage and bone. 

CDKN2A

Cyclin Dependent Kinase Inhibitor 2A

Cell cycle G1 control; mutated or deleted in a wide variety of tumors; tumor suppressor gene

CDX2

Caudal Type Homeobox 2

Major regulator of intestine-specific genes; plays a major role in the early embryonic development of the intestinal tract.; associated with intestinal inflammation and tumorigenesis

CLDN3

Claudin 3

An integral membrane protein; component of tight junction strands; putative apoptosis-related protein

DAB2IP

Disabled Homolog 2-Interacting Protein

Tumor suppressor; inactivated by methylation in prostate and breast cancers

DAPK1

Death Associated Protein Kinase 1

Programmed cell death; a tumor suppressor candidate; splicing results in multiple transcript variants

DKK1

Dickkopf WNT Signaling Pathway Inhibitor 1

Role in embryonic development; important in bone formation in adults; Elevated expression causes numerous human cancers; promote proliferation, invasion and growth in cancer cell lines

DNAJC15

DnaJ Heat Shock Protein Family (Hsp40) Member C15

Protein Coding gene; Cause of 3-methylglutaconic aciduria type 5; dilated cardiomyopathy with ataxia; multiple transcript variants

ESR1

Estrogen Receptor 1

Central DNA binding domain; role in growth, metabolism, sexual development, gestation, and other reproductive functions; breast cancer, endometrial cancer, and osteoporosis; have dozens of transcript variants

F2R

Coagulation Factor II Thrombin Receptor

Regulation of thrombotic response; multiple transcript variants

FADS1

Fatty Acid Desaturase 1

Conserved histidine motifs; regulate unsaturation of fatty acids 

FHIT

Fragile Histidine Triad Diadenosine Triphosphatase

Involved in purine metabolism; carcinogen-induced damage; found in all esophageal, stomach, and colon carcinomas; tumor suppressor; loss of activity results in replication stress and DNA damage.

FYN

FYN Proto-Oncogene, Src Family Tyrosine Kinase

Protein-tyrosine kinase oncogene family;  implicated in the control of cell growth; existence of distinct isoforms

GSTP1

Glutathione S-Transferase Pi 1

Function in xenobiotic metabolism;  play a role in susceptibility to cancer and other diseases 

HLA-B

Major Histocompatibility Complex, Class I, B

Central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen;

HLTF

Helicase Like Transcription Factor

 Helicase and ATPase activities; regulate transcription 

ID4

Inhibitor Of DNA Binding 4, HLH Protein

Regulation of diverse cellular processes; development and tumorigenesis.

IGFBP3

Insulin Like Growth Factor Binding Protein 3

Transcriptional splice variants ;  altering interaction with cell surface receptors

IGFBP7

Insulin Like Growth Factor Binding Protein 7

Stimulates prostacyclin production and cell adhesion; associated with retinal arterial macroaneurysm

INSIG1

Insulin Induced Gene 1

Regulates cholesterol metabolism, lipogenesis, and glucose homeostasis; ubiquitin-mediated degradation; multiple transcript variants

LOX

Lysyl Oxidase

Multiple transcript variants; crosslinking of collagens and elastin; role in tumor suppression; predisposition to thoracic aortic aneurysms and dissections

LZTS1

Leucine Zipper Tumor Suppressor 1

Tumor suppressor protein; protein is silenced in rapidly metastasizing and metastatic tumor cells; role in cell-cycle control; Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer.

MLF1

Myeloid Leukemia Factor 1

Phenotypic determination of hemopoetic cells; associated with myelodysplastic syndrome and acute myeloid leukemia; Multiple transcript variants 

MLH1

MutL Homolog 1

DNA mismatch repair system; involved in meiosis; hereditary nonpolyposis colon cancer 

MTSS1

MTSS I-BAR Domain Containing 1

Associated with Lung Giant Cell Carcinoma and Oropharyngeal Anthrax; identical protein binding and actin binding

MX1

MX Dynamin Like GTPase 1

Participates in the cellular antiviral response; multiple transcript variants

NID1

Nidogen 1

Basement membrane glycoproteins; role in cell interactions with the extracellular matrix

NID2

Nidogen 2

Basement membrane proteins; maintaining the structure of the basement membrane

NT5E

5'-Nucleotidase Ecto

Determinant of lymphocyte differentiation; Defects can lead to the calcification of joints and arteries

PAX6

Paired Box 6

Bind DNA and function as regulators of gene transcription; multiple transcript variants 

PGR

Progesterone Receptor

Central role in reproductive events associated with the organization and maintenance of pregnancy; mediates the physiological effects of progesterone

PPIC

Peptidylprolyl Isomerase C

Accelerate the folding of proteins; can bind immunosuppressant cyclosporin A

PTEN

Phosphatase And Tensin Homolog

Tumor suppressor that is mutated in many types of cancers at high frequency; multiple transcript variants

PTGS2

Prostaglandin-Endoperoxide Synthase 2

Enzyme in prostaglandin biosynthesis; involved in inflammation and mitogenesis

PYCARD

PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD).

Large signaling complexes in the inflammatory;  undergoing apoptosis

RAB32

RAB32, Member RAS Oncogene Family

Involved in autophagy; melanosome secretion; linked to leprosy

RARB

Retinoic Acid Receptor Beta

Mediates cellular signalling in embryonic morphogenesis;  cell growth;  differentiation; hepatocellular carcinoma; flanks a hepatitis B virus integration site; multiple transcript variants

RASSF2

Ras Association Domain Family Member 2

Located near the prion gene; Ras association

RB1

Retinoblastoma-Associated Protein

First tumor suppressor gene found; cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma

RBP1

Retinol Binding Protein 1

Necessary for growth, reproduction, differentiation of epithelial tissues and vision; Multiple transcript variants

RBP4

Retinol Binding Protein 4

Carrier for retinol (vitamin A alcohol) in the blood; prevents its loss by filtration through the kidney glomeruli; deficiency of vitamin A blocks secretion of the binding protein posttranslationally; deficiency results in defective delivery and supply to the epidermal cells

RGS2

Regulator Of G Protein Signaling 2

Mediator of myeloid differentiation;  play a role in leukemogenesis

RPRM

Reprimo, TP53 Dependent G2 Arrest Mediator Homolog

Related pathways are DNA Damage Response

SCRN1

Secernin 1

Regulation of exocytosis in mast cells; spliced transcript variants

SNAI1

Snail Family Transcriptional Repressor 1

Zinc finger transcriptional repressor ; critical for mesoderm formation in the developing embryo; downregulates the expression of ectodermal genes within the mesoderm; 

SYK

Spleen Associated Tyrosine Kinase

Widely expressed in hematopoietic cells; mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis; potential tumor suppressor in human breast carcinomas; spliced transcript variants

TFAP2C

Transcription Factor AP-2 Gamma

Activation of several developmental genes; induced during retinoic acid-mediated differentiation; plays a role in the development of the eyes, face, body wall, limbs, and neural tube

THBD

Thrombomodulin

Activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated.; mutation cause of thromboembolic disease, also known as inherited thrombophilia.

THBS1

Thrombospondin 1

An adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions; play roles in platelet aggregation, angiogenesis, and tumorigenesis.

TIMP3

TIMP Metallopeptidase Inhibitor 3

Inhibitors of the matrix metalloproteinases; mutations cause autosomal dominant disorder Sorsby's fundus dystrophy; induced in response to mitogenic stimulation

TNFSF9

TNF Superfamily Member 9

Bidirectional signal transducer; generation of cytotoxic T cells; expressed in carcinoma cell lines,

WIF1

WNT Inhibitory Factor 1

Play a role in embryonic development; involved in mesoderm segmentation; epigenetically silenced in various cancers

FGFR2

Fibroblast Growth Factor Receptor 2

Interacts with fibroblast growth factors; influence mitogenesis and differentiation; associated with Crouzon syndrome, Craniosynostosis, Pfeiffer syndrome, Saethre-Chotzen syndrome,  Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, and syndromic craniosynostosis; Multiple alternatively spliced transcript variants