Table 5.
Gene function of candidate causal genes.
| Gene | Full name | Molecular function/biological process |
|---|---|---|
| Barrier formation/defense | ||
| FLG | Filaggrin | (1) protein binding (2) structural constituent of skin epidermis/establishment of skin barrier (3) peptide cross-linking |
| MUC5AC | Mucin 5AC, oligomeric mucus/gel-forming | (1) phosphatidylinositol-mediated signaling (2) gel-forming secretory mucin |
| Cell death | ||
| GSDMB | Gasdermin B | (1) wide pore channel activity (2) granzyme-mediated programmed cell death signaling pathway (3) pyroptosis |
| DNA/RNA binding | ||
| BACH2 | BTB domain and CNC homolog 2 | (1) sequence-specific double-stranded DNA binding |
| GATA3 | GATA binding protein 3 | (1) transcription regulatory region sequence-specific DNA binding (2) core promoter proximal region sequence-specific DNA binding (3) E-box binding (4) negative regulation of mammary gland epithelial cell proliferation (5) positive regulation of transcription, DNA-templated (6) positive regulation of transcription from RNA polymerase II promoter (7) mesenchymal to epithelial transition (8) lymphocyte migration (9) positive regulation of interleukin-5 and−13 secretion |
| IRF1 | Interferon regulatory factor 1 | (1) protein binding (2) RNA polymerase II core promoter proximal region sequence-specific DNA binding (3) apoptotic process (4) cell cycle arrest (5) cellular response to interferon-beta (6) defense response to virus |
| RORA | RAR related orphan receptor A | (1) DNA-binding transcription factor activity (2) ligand-activated transcription factor activity (3) oxysterol binding (4) RNA polymerase II cis-regulatory region sequence-specific DNA (5) cellular response to sterol (6) intracellular receptor signaling pathway (7) positive regulation of transcription, DNA-templated (8) positive regulation of transcription by RNA polymerase II |
| RPS26 | Ribosomal protein S26 | (1) negative regulation of RNA splicing (2) cadherin binding involved in cell-cell adhesion (3) mRNA binding (4) protein binding (5) structural constituent of ribosome (6) cytoplasmic translation (7) negative regulation of RNA splicing |
| SMAD3 | SMAD family member 3 | (1) RNA polymerase II core promoter proximal region sequence-specific DNA binding (2) transforming growth factor beta receptor binding and signaling pathway (3) zinc ion binding (4) phosphatase binding (5) protein kinase binding (6) ubiquitin protein ligase binding (7) protein homodimerization activity (8) negative regulation of transcription from RNA polymerase II promoter (9) positive regulation of epithelial to mesenchymal transition (10) evasion or tolerance of host defenses by virus (11) negative regulation of cell growth (12) positive regulation of transcription factor import into nucleus (13) positive regulation of nitric oxide biosynthetic process (14) negative regulation of fat cell differentiation (15) negative regulation of cytosolic calcium ion concentration (16) positive regulation of extracellular matrix assembly |
| STAT6 | Signal transducer and activator of transcription 6 | (1) protein binding (2) protein phosphatase binding (3) DNA-binding transcription activator activity, RNA polymerase II-specific |
| WDR36 | WD repeat domain 36 | (1) poly(A) RNA binding |
| Membrane binding/transport | ||
| AAGAB | Alpha and gamma adaptin binding protein | (1) protein binding (2) protein transport (3) may be involved in endocytic recycling of growth factor receptors such as EGFR |
| CLEC16A | C-type lectin domain containing 16A | (1) possible involvement in autophagy and endosomal transport |
| SLC22A4 | Solute carrier family 22 member 4 | (1) carnitine transport (2) quaternary ammonium group transport (3) carnitine transmembrane transporter activity (4) cation:cation antiporter activity (5) PDZ domain binding (6) amino acid import across plasma membrane |
| SLC22A5 | Solute carrier family 22 member 5 | (1) carnitine transport (2) quaternary ammonium group transport (3) carnitine transmembrane transporter activity (4) PDZ domain binding (5) sodium-dependent organic cation transport |
| ORMDL3 | ORMDL sphingolipid biosynthesis regulator 3 | (1) Protein binding (2) positive regulation of autophagy (3) positive regulation of protein localization to nucleus (4) may indirectly regulate ER-mediated calcium signaling |
| Metabolic processes | ||
| D2HGDH | D-2-hydroxyglutarate dehydrogenase | (1) (R)-2-hydroxyglutarate dehydrogenase activity |
| PGAP3 | Post-GPI attachment to proteins phospholipase 3 | (1) Possible involvement in GPI anchor metabolic process and hydrolase activity, acting on ester bonds |
| MSL1 | MSL complex subunit 1 | (1) Histone H4-K16 acetylation |
| SUOX | Sulfite oxidase | (1) Possible involvement in sulfur compound metabolic processing |
| Signal transduction | ||
| CD247 | CD247 molecule | (1) Protein binding (2) identical protein binding (3) protein tyrosine kinase binding |
| GNGT2 | G protein subunit gamma transducin 2 | (1) GTPase activity |
| HLA-DQA1/A2/B1/B2 | Major histocompatibility complex, class II, DQ beta 1 | (1) Humoral immune response mediated by circulating immunoglobulin (2) immunoglobulin production involved in immunoglobulin mediated immune response (3) antigen processing and presentation of exogenous peptide antigen via MHC class II (4) T cell receptor signaling pathway |
| IL18R1 | Interleukin 18 receptor 1 | (1) Protein binding (2) interleukin-18-mediated signaling pathway (3) positive regulation of interferon-gamma production (4) positive regulation of NF-kappaB transcription factor activity (5) positive regulation of NIK/NF-kappaB signaling (6) positive regulation of T-helper 1 cell cytokine production |
| IL1RL1 | Interleukin 1 receptor like 1 | (1) protein binding (2) IL33 receptor |
| IL33 | Interleukin 33 | (1) positive regulation of chemokine secretion (2) positive regulation of macrophage activation (3) cytokine activity (4) protein binding |
| LRRC32 | Leucine rich repeat containing 32 | (1) TGF-beta binding and signaling pathway |
| PDCD1 | Programmed cell death 1 | (1) protein binding (2) cell surface receptor signaling pathway (3) negative regulation of CD4-positive, alpha-beta T cell proliferation (4) positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process (5) response to cytokine (6) signal transduction (7) T cell co-stimulation |
| TSLP | Thymic stromal lymphopoietin | (1) cytokine activity (2) positive regulation of tyrosine phosphorylation of STAT protein (3) promotes T helper type 2 cell responses (4) positive regulation of chemokine production (5) positive regulation of cytokine-mediated signaling pathway |
| Unknown | ||
| DEXI | DEXI homolog | Unknown |
| KIAA1109 | KIAA1109 | (1) Protein binding |
| KIF1A | Kinesin family member 1A | (1) Identical protein binding |
| ZNF652 | Zinc finger protein 652 | (1) Protein binding |
| ZBTB10 | Zinc finger and BTB domain containing 10 | (1) Protein binding |
Gene function and biological process for the candidate genes as determined using the Gene 2 Function and UniProt databases, listing associated disease states and gene function annotations.