Table 1.
Selected genetic variants associated with present diphallia case.
| Gene | Protein Function |
|---|---|
| Development and morphogenesis | |
|
| |
| BMP4 | Bone morphogenetic protein 4. Cartilage and bone formation. Tooth development, limb formation. Embryonic mammary development. Prostate gland, ureteric bud morphogenesis. |
|
| |
| CFAP53 | Cilia- and flagella-associated protein 53. Beating of primary cilia. Organ laterality during embryogenesis. |
|
| |
| DNAH5 | Dynein heavy chain 5, axonemal. Cilium assembly, cilium movement, determination of left/right asymmetry, heart development. |
|
| |
| IFT172 | Intraflagellar transport protein 172 homolog. Maintenance and formation of cilia. Hedgehog signaling. Dorsal/ventral pattern formation, left/right axis specification, limb, bone, brain development. |
|
| |
| KMT2C | Histone-lysine N-methyltransferase 2C. Histone methyltransferase. Leukemogenesis and developmental disorder. |
|
| |
| SOX6 | Transcription factor SOX-6. Plays a key role in several developmental processes, including neurogenesis and skeleton formation. |
|
| |
| TBX6 | T-box transcription factor TBX6. Neural development. Morphology and motility of nodal cilia. |
|
| |
| UBE3A | Ubiquitin-protein ligase E3A. Development. Androgen receptor signaling. Prostate gland growth. |
|
| |
| Signal transduction | |
|
| |
| ADGRA2 | Adhesion G protein-coupled receptor A2. Functions as a WNT7-specific coactivator of canonical Wnt signaling. |
|
| |
| APC | Adenomatous polyposis coli protein. Participates in Wnt signaling as a negative regulator. |
|
| |
| CCAR2 | Cell cycle and apoptosis regulator protein 2. Positively regulates the beta-catenin pathway (canonical Wnt signaling pathway) and is required for MCC-mediated repression of the beta-catenin pathway. |
|
| |
| RYR2 | Ryanodine receptor 2. Calcium, BMP signaling. |
|
| |
| Cell differentiation, organization, division, proliferation, growth, migration, death | |
|
| |
| CDK15 | Cyclin-dependent kinase 15. Anti-apoptotic protein. |
|
| |
| CYFIP2 | Cytoplasmic FMR1-interacting protein 2. T-cell adhesion, apoptosis. |
|
| |
| DAPK1 | Death-associated protein kinase 1. Cell survival, apoptosis, autophagy. |
|
| |
| DRAM1 | DNA damage-regulated autophagy modulator protein 1. |
|
| |
| HSP90AB1 | Heat shock protein HSP 90-beta. Cell cycle control. Epigenetic modifier regulation. |
|
| |
| MADD | MAP kinase-activating death domain protein. Cell proliferation, survival, death. |
|
| |
| NFKB1 | Nuclear factor NF-kappa-B p105 subunit. Cell growth, differentiation. |
|
| |
| PAK2 | Serine/threonine-protein kinase PAK 2. Cell motility, cell cycle progression, apoptosis or proliferation. |
|
| |
| TNFAIP8L2 | Tumor necrosis factor alpha-induced protein 8-like protein 2. Promotes Fas-induced apoptosis. |
|
| |
| TP53BP2 | Apoptosis-stimulating of p53 protein 2. Regulates apoptosis and cell growth. Impedes cell cycle progression at G2/M. |
|
| |
| WWC1 | Protein KIBRA. Cell proliferation, apoptosis. |
|
| |
| Hormones and hormonal regulation | |
|
| |
| NCOA6 | Nuclear receptor coactivator 6. Androgen receptor coactivator. |
|
| |
| TMF1 | TATA element modulatory factor. Androgen receptor coactivator. |
|
| |
| UBE3A | Ubiquitin-protein ligase E3A. Androgen receptor coactivator. |