Type Gene Protein Function References
HLA HLA–A HLA class I histocompatibility antigen, A Peptide antigen presentation to the immune system [170-172]
HLA-DRB1 and DQA1 HLA class II histocompatibility antigen, DRB1 and DQA1 Peptide antigen presentation to the immune system [171, 173]
HLA class III HLA class III histocompatibility antigen Involved in inflammation and cytokine production [174]
Immune- regulatory AIRE Autoimmune regulator Maintenance of immune tolerance [175, 176]
BACH2 Transcription regulator protein BACH2 B cell transcriptional repressor encodes a transcriptional repressor of B cells, which is a key regulator of CD4+ T-cell differentiation that prevents inflammatory disease by controlling the balance between tolerance and immunity [168]
C1QTNF6 Complement C1q tumour necrosis factor-related protein 6 Induces monocyte IL-10 expression [171]
CASP7 Caspase-7 Executor protein of apoptosis and inflammation [168]
CCR6 Chemokine-cytokine receptor 6 Regulates differentiation and function of B and T lymphocytes and dendritic cells [171, 174]
CD44 CD44 antigen Involves in T cell development [168]
CD80 T‑lymphocyte activation antigen CD80 Co-stimulates activation of T cells [168]
CLNK Cytokine-dependent hematopoietic cell linker Positively regulates immune-receptor signalling [168]
CTLA4 Cytotoxic T‑lymphocyte protein 4 Inhibition of T cells [177-179]
CXCR5 C-X-C chemokine receptor type 5 Involves in B lymphocyte migration [169]
FASLG FAS ligand Regulate immune apoptosis [180]
FOXP1 Forkhead box protein P1 Regulates B cell development [181]
FOXP3 Forkhead box protein P3 Regulates development and function of regulatory T cells [182]
GZMB Granzyme B Mediates the process of immune-induced cell death with contribution of cytotoxic T lymphocytes and natural killer cells [171, 183]
IFIH1 Interferon-induced helicase C domain 1 Regulates innate immune response [168]
IKZF4 Zinc finger protein Eos Regulates T cell activation [168, 169]
IL2RA Interleukin‑2 receptor subunit alpha Regulates regulatory T cells [169, 171]
NLRP1 NACHT leucine-rich-repeat protein 1 Regulates innate immune system [42, 184-186]
PTPN22 Lymphoid protein tyrosine phosphatase non-receptor type 22 Negative regulation of T cell activation [171, 187-192]
SH2B3 SH2B adapter protein 3 Development of B and T lymphocytes [168]
SLA Src-like-adapter Regulates antigen receptor signalling [168]
TOB2 Protein TOB2 Involves in T cell tolerance [168]
TSLP Thymic stromal lymphopoietin Cytokine regulator of maturation of skin dendritic cells and T cells [182]
UBASH3A Ubiquitin-associated and SH3 domain–containing A protein Suppresses T cell receptor signaling [171]
XBP1 X‑box-binding protein 1 Regulator of major histocompatibility complex class II [182, 193]
Melanocyte function ASP Agouti signalling protein Melanogenesis regulator via MC1R [194]
FOXD3 Forkhead box D3 Regulator of melanoblast development [195]
MC1R Melanocortin 1 receptor Regulator of melanogenesis [168, 194]
OCA2 OCA2 gene Melanosomal transporter [168]
PMEL Melanocyte-specific protein PMEL Structural organization of premelanosomes [169]
TYR Tyrosinase Regulator of melanogenesis [171, 196]
ZMIZ1 Zinc finger protein MIZ type 1 Regulates development, function and survival of melanocytes [174, 197]
Metabolism-related genes ACE Angiotensin-converting enzyme Regulator of inflammation and blood pressure [198]
CAT Catalase Protects cells from oxidative stress by breakdown of hydrogen peroxide [199-201]
EDN-1 Endothelin-1 Regulator of melanocyte growth and function [202]
LPP Lipoma-preferred partner Potential co‑activator [171]
RERE Arginine–glutamic acid dipeptide repeats protein Regulates cell apoptosis [171]
RNASET2 Ribonuclease T2 Oxidative stress regulator [174]