Table 3.
Proteins encoded by genes identified by hypermethylated sites in affected twins
| Gene symbol | Gene name | Localization | Protein type | Function | Cell or tissue expression | Diseases |
|---|---|---|---|---|---|---|
| SMS | Sspermine synthase | Cytoplasm | Enzyme | Arginine and proline metabolism; methionine metabolism; urea cycle and metabolism of amino groups; β-alanine metabolism | Double-negative T cells, bone marrow cell lines, breast carcinoma, gastrocnemius, myeloma cell lines | Mental retardation, X-linked, Snyder–Robinson type, prostatic carcinoma |
| ARX | Aristaless related homeobox | Nucleus | DNA binding transcription factor | Tissue development, especially of brain | Neural precursor cells, brain, skeletal muscle, heart, liver, testis, Ewing's sarcoma | Lissencephaly X-linked type 2, epileptic encephalopathy early infantile type 1, Partington syndrome, agenesis of the corpus callosum with abnormal genitalia |
| ARAF | V-raf murine sarcoma 3611 viral oncogene homolog | Cytoplasm (mitochondria, nucleus) | Enzyme | Involved in pathway of EGFR1 | Bone marrow, melanoma cell lines, CD34+ cells, acute myeloid leukaemia blast cells, choroidal melanocytes, eye, heart tissue, lymphoblastoid cell lines, squamous cell carcinoma cell lines | – |
| CCDC22 | Coiled-coil domain containing 22 | Unknown | Unknown | Regulation apoptosis (?) | Immature dendritic cells, pancreas, stomach; renal, endometrial and ovarian cancer | Over-expression in malignancies |
| SSX2 | Synovial sarcoma, X breakpoint 2 | Nucleus | Transcription factor | Transcription regulator activity | Testis, thyroid gland | Synovial sarcoma |
| RGAG4 | Retrotransposon gag domain containing 4 | Nucleus | Unknown | Unknown | Ubiquitous | – |
| PGK1 | Phosphoglycerate kinase 1 | Cytoplasm (nucleus, mitochondria) | Enzyme | Glycolysis. May also act as a co-factor for polymerase alpha | Ubiquitous | Aemolytic anaemia, rhabdomyolisis |
| IL1RAPL2 | Interleukin 1 receptor accessory protein-like 2 | Plasma membrane | Co-receptor of IL-1R (?) | Cell communication, signal transduction (?) | Brain, ovary | – |
| UTP14A | UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) | Nucleolus | Possible protein cofactor | 18S rRNA synthesis. Also binds p53 and promotes p53 degradation | – | – |
| HSFX1 | Heat shock transcription factor family, X linked 1 | Nucleus | Transcription factor | Transcription regulator activity | Testis | Male infertility, amyotrophic lateral sclerosis |
| MTM1 | Myotubularin 1 | Cytoplasm | Enzyme | Dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine | Brain, heart, kidney, liver, placenta, lung, pancreas | X-linked myotubular myopathy |
| LAGE3 | L antigen family, member 3 | Cytoplasm, nucleus | Unknown | Unknown | Ubiquitous | – |