RARB
|
Retinoic acid receptor β |
3p24.2 |
Nuclear transcriptional regulator, binds retinoic acid |
Matthew-Wood syndrome, microphthalmia, diaphragmatic hernia |
[37] |
None |
RXRA
|
Retinoid X receptor α |
9q34.2 |
Nuclear receptor, involvement in retinoic-acid-mediated gene activation |
Colon adenoma, recessive dystrophic Epidermolysis bullosa |
[37] |
None |
VDR
|
Vitamin D receptor |
12q13.11 |
Ligand-inducible transcription factor, also a receptor for the secondary bile acid, lithocholic acid |
Hypocalcaemic vitamin D-resistant rickets, osteoporosis, vitamin D-dependent rickets (type 2a) |
[37] |
None |
TRIM25
|
Tripartite motif-containing 25 |
17q23.1 |
Transcription factor, mediates estrogen actions in breast cancer |
Influenza, swine influenza |
[38] |
None |
WT1
|
WT1 transcription factor |
11p13 |
Transcription factor, development of urogenital system, tumor suppressor gene |
Gonadal dysgenesis, cancers, aniridia, Denys-Drash syndrome, Frasier syndrome, genetic steroid-resistant nephrotic syndrome, Meacham syndrome, ulcerative colitis, Wilms tumor, aniridia, genitourinary anomalies, and retardation syndrome |
[39] |
None |
STAT1
|
Signal transducer and activator of transcription 1 |
2q32.2 |
Transcription activator, mediates expression of a variety of genes, which is thought to be important for cell viability in response to pathogens, can be activated by IFNα and IFNγ |
Autoimmune enteropathy and endocrinopathy, immunodeficiency 31A, 31B, and 31C, susceptibility to viral and mycobacterial infections |
None |
[40] |
STAT2
|
Signal transducer and activator of transcription 2 |
12q13.3 |
Transcription activator, in response to IFN, forms a complex with STAT1 and ISGF3G |
Immunodeficiency 44, primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection |
None |
[41,42,43] |
IRF7
|
Interferon regulatory factor 7 |
11p15.5 |
Transcriptional activation of virus-inducible cellular genes, including IFNβ chain genes |
Immunodeficiency 39 |
None |
[44] |
IRF9
|
Interferon regulatory factor 9 |
14q12 |
Transcription factor, mediates signaling of IFNα and IFNβ, IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form ISGF3 transcription factor |
Immunodeficiency 65, susceptibility to viral infections |
None |
[45] |