◎ Sugi Atlas

Atlas / Disease / Vitiligo

Vitiligo

disease
On this page

Summary

Vitiligo (MONDO:0008661) is a disease with 75 cohort genes (157 GWAS associations across 30 studies) and 224 clinical trials. The dominant Reactome pathway is Interferon gamma signaling (9 cohort genes). Top therapeutic interventions include tacrolimus anhydrous, afamelanotide, and ruxolitinib.

At a glance

  • Cohort genes: 75
  • GWAS associations: 157
  • ClinVar variants: 1
  • Clinical trials: 224

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namevitiligo
Mondo IDMONDO:0008661
EFOEFO:0004208
MeSHD014820
Orphanet247871
DOIDDOID:12306
ICD-10-CML80
ICD-111894744640
NCITC26915
UMLSC0042900
MedGen22677
Is cancer (heuristic)no

Data availability: 1 ClinVar variant · 157 GWAS associations (30 studies) · 4 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › vitiligo

Related subtypes (32): spongiotic dermatitis, atopic eczema, psoriasis, contact dermatitis, urticaria, acneiform dermatitis, acrodermatitis, folliculitis, granuloma annulare, granulomatous dermatitis, lichen planus, neurodermatitis, neurotic excoriation, parapsoriasis, pityriasis rosea, seborrheic dermatitis, acanthosis nigricans, dermatosis papulosa nigra, lichen sclerosus et atrophicus, acne, porphyria cutanea tarda, dermatomyositis, acute generalized exanthematous pustulosis, hydroa vacciniforme, autoimmune bullous skin disease, cutaneous vasculitis, skin infection, intertrigo, lipodermatosclerosis, exfoliative dermatitis, radiodermatitis, food dermatitis

Subtypes (3): alopecia universalis onychodystrophy vitiligo, trichrome vitiligo, generalized vitiligo

Genetics & variants

GWAS landscape

157 GWAS associations across 30 studies. Top hits map to 30 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
chr7:897112164e-294?
chr8:60760281e-144?
chr4:1303088042e-93?
rs92715973e-89HLA-DRB1 - HLA-DQA1A1.77
rs601312612e-66POLR1HASP, POLR1HASP?1.53
chr7:1580154577e-59?
rs1459540183e-54HLA-DRB9?4.62
rs122035925e-54IRF4C0.25
chr16:859678915e-53?
chr8:795680603e-49?
rs119662001e-48SLC44A4A1.9
chr14:1060544285e-46?
rs11268091e-43TYRG1.5
chr8:1194248064e-39?
rs132278791e-34HIPK2?0.31
rs94689252e-33WASF5P - LINC02571?1.35
rs42687483e-33DEF8T1.41
rs20174457e-31IKZF4A1.33
rs2295271e-30C1QTNF6A1.32
rs130763122e-30LPPT1.32
chr7:1580269742e-29?
rs124829046e-29UBASH3AA1.35
rs7067797e-27IL2RAT1.3
chr17:141398887e-27?
rs1177440819e-26CPVLG1.84
rs21114856e-25FAP - IFIH1G1.3
chr9:1381640381e-24?
rs110212322e-23LNCRNA-IUR - FAM76BC1.33
rs107746246e-23LINC02356G1.27
rs283663536e-23HLA-DRB1 - HLA-DQA1A0.32

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90476173Verma A202414,580409,977Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90455548Wang D20244,4408,887Genome-wide meta-analysis identifies 11 susceptibility variants of vitiligo in the Chinese Han population.
GCST90478787Verma A20243,762112,106Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480450Verma A20243,762112,106Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90428837Yu X20242,85354,071Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST004785Jin Y20162,85337,405Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
GCST90478786Verma A20241,75655,360Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST007112Jin Y20191,46719,156Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.
GCST000662Jin Y20101,3922,629Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
GCST000981Jin Y20111,3390Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding6
Tier 2: splice/UTR1
Tier 3: regulatory1
Tier 4: intronic/intergenic42

MAF distribution

BucketVariants
common (>=0.05)35
low_freq (0.01-0.05)1
rare (<0.01)0
unknown14

Functional consequences

ConsequenceCount
intron_variant22
unknown15
missense_variant6
intergenic_variant4
non_coding_transcript_exon_variant1
3_prime_UTR_variant1
TF_binding_site_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
chr7:897112164e-294Tier 4: intronic/intergenic
chr8:60760281e-144Tier 4: intronic/intergenic
chr4:1303088042e-93Tier 4: intronic/intergenic
rs9271597632623514T>A,G0.427intergenic_variantHLA-DRB1 - HLA-DQA13e-89Tier 4: intronic/intergenic
rs60131261629969559GTTTA>G,GTTTATTTA0.05intron_variantPOLR1HASP, POLR1HASP2e-66Tier 4: intronic/intergenic
chr7:1580154577e-59Tier 4: intronic/intergenic
rs145954018632472545CTG>C,CTGTG0.05intron_variantHLA-DRB93e-54Tier 4: intronic/intergenic
rs122035926396321C>G,T0.128intron_variantIRF45e-54Tier 4: intronic/intergenic
chr16:859678915e-53Tier 4: intronic/intergenic
chr8:795680603e-49Tier 4: intronic/intergenic
rs11966200631869289C>T0.06intron_variantSLC44A41e-48Tier 4: intronic/intergenic
chr14:1060544285e-46Tier 4: intronic/intergenic
rs11268091189284793G>A0.269missense_variantTYR1e-43Tier 1: coding
chr8:1194248064e-39Tier 4: intronic/intergenic
rs132278797139670719T>A,C,G0.072intron_variantHIPK21e-34Tier 4: intronic/intergenic
rs9468925631291060G>A,C,T0.383intron_variantWASF5P - LINC025712e-33Tier 4: intronic/intergenic
rs42687481689960104T>C0.271intron_variantDEF83e-33Tier 4: intronic/intergenic
rs20174451256013288G>A,C,T0.331intron_variantIKZF47e-31Tier 4: intronic/intergenic
rs2295272237185445C>A,G,T0.429missense_variantC1QTNF61e-30Tier 1: coding
rs130763123188371466C>A,G,T0.458intron_variantLPP2e-30Tier 4: intronic/intergenic
chr7:1580269742e-29Tier 4: intronic/intergenic
rs124829042142431719T>A,C0.224intron_variantUBASH3A6e-29Tier 4: intronic/intergenic
rs706779106056861T>A,C,G0.465intron_variantIL2RA7e-27Tier 4: intronic/intergenic
chr17:141398887e-27Tier 4: intronic/intergenic
rs117744081729092663A>G0.03missense_variantCPVL9e-26Tier 1: coding
rs21114852162254026A>G0.39intergenic_variantFAP - IFIH16e-25Tier 4: intronic/intergenic
chr9:1381640381e-24Tier 4: intronic/intergenic
rs110212321195587644T>C0.19intron_variantLNCRNA-IUR - FAM76B2e-23Tier 4: intronic/intergenic
rs1077462412111395984G>A,C0.495intron_variantLINC023566e-23Tier 4: intronic/intergenic
rs28366353632597227A>G0.364intergenic_variantHLA-DRB1 - HLA-DQA16e-23Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
374063NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)KIF1BUncertain significancecriteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 60 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
RPS26Orphanet:124Diamond-Blackfan anemia
ATXN2Orphanet:803Amyotrophic lateral sclerosis
ATXN2Orphanet:98756Spinocerebellar ataxia type 2
SLC1A2Orphanet:442835Non-specific early-onset epileptic encephalopathy
STAT4Orphanet:117Behçet disease
STAT4Orphanet:536Systemic lupus erythematosus
STAT4Orphanet:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
STAT4Orphanet:85410Oligoarticular juvenile idiopathic arthritis
STAT4Orphanet:93552Pediatric systemic lupus erythematosus
BTNL2Orphanet:797Sarcoidosis
SUOXOrphanet:99731Isolated sulfite oxidase deficiency
TGOrphanet:95716Familial thyroid dyshormonogenesis
TNFRSF11AOrphanet:1782Dysosteosclerosis
TNFRSF11AOrphanet:178389Osteopetrosis-hypogammaglobulinemia syndrome
TNFRSF11AOrphanet:2801Juvenile Paget disease
TNFRSF11AOrphanet:391490Adult-onset myasthenia gravis
TNFRSF11AOrphanet:85195Familial expansile osteolysis
TNFSF11Orphanet:667Autosomal recessive malignant osteopetrosis
FASLGOrphanet:3261Autoimmune lymphoproliferative syndrome
TREHOrphanet:103909Trehalase deficiency
TYROrphanet:352734Minimal pigment oculocutaneous albinism type 1
TYROrphanet:352737Temperature-sensitive oculocutaneous albinism type 1
TYROrphanet:79431Oculocutaneous albinism type 1A
TYROrphanet:79434Oculocutaneous albinism type 1B
TYROrphanet:895Waardenburg syndrome type 2
CDH23Orphanet:231169Usher syndrome type 1
CDH23Orphanet:2965Prolactinoma
CDH23Orphanet:314777Familial isolated pituitary adenoma
CDH23Orphanet:90636Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
CDH23Orphanet:91347TSH-secreting pituitary adenoma
CDH23Orphanet:96253Cushing disease
ITCHOrphanet:228426Syndromic multisystem autoimmune disease due to Itch deficiency
BACH2Orphanet:714472Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
CBFA2T3Orphanet:329469Acute megakaryoblastic leukemia in children without Down syndrome
CCR6Orphanet:220393Diffuse cutaneous systemic sclerosis
CCR6Orphanet:220402Limited cutaneous systemic sclerosis
ZMIZ1Orphanet:528084Non-specific syndromic intellectual disability
KIF1BOrphanet:29072Hereditary pheochromocytoma-paraganglioma
KIF1BOrphanet:99946Autosomal dominant Charcot-Marie-Tooth disease type 2A1
TICAM1Orphanet:1930Herpes simplex virus encephalitis
IFIH1Orphanet:51Aicardi-Goutières syndrome
IFIH1Orphanet:689231IFIH1-related hereditary spastic paraplegia
IFIH1Orphanet:85191Singleton-Merten dysplasia
SMOC2Orphanet:314721Atypical dentin dysplasia due to SMOC2 deficiency
RNASET2Orphanet:85136Cystic leukoencephalopathy without megalencephaly
SLC29A3Orphanet:168569H syndrome
SLC29A3Orphanet:1782Dysosteosclerosis
CTLA4Orphanet:2584Classic mycosis fungoides
CTLA4Orphanet:3162Sézary syndrome
CTLA4Orphanet:391490Adult-onset myasthenia gravis

Cohort genes → proteins

75 cohort genes, 73 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only74
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
RPS26HGNC:10414ENSG00000197728P62854Small ribosomal subunit protein eS26gwas
ATXN2HGNC:10555ENSG00000204842Q99700Ataxin-2gwas
CXCR5HGNC:1060ENSG00000160683P32302C-X-C chemokine receptor type 5gwas
PMELHGNC:10880ENSG00000185664P40967Melanocyte protein PMELgwas
SLC1A2HGNC:10940ENSG00000110436P43004Excitatory amino acid transporter 2gwas
STAT4HGNC:11365ENSG00000138378Q14765Signal transducer and activator of transcription 4gwas
STK25HGNC:11404ENSG00000115694O00506Serine/threonine-protein kinase 25gwas
BTNL2HGNC:1142ENSG00000204290Q9UIR0Butyrophilin-like protein 2gwas
SUOXHGNC:11460ENSG00000139531P51687Sulfite oxidase, mitochondrialgwas
TEFHGNC:11722ENSG00000167074Q10587Thyrotroph embryonic factorgwas
TGHGNC:11764ENSG00000042832P01266Thyroglobulingwas
TNFRSF11AHGNC:11908ENSG00000141655Q9Y6Q6Tumor necrosis factor receptor superfamily member 11Agwas
TNFSF11HGNC:11926ENSG00000120659O14788Tumor necrosis factor ligand superfamily member 11gwas
FASLGHGNC:11936ENSG00000117560P48023Tumor necrosis factor ligand superfamily member 6gwas
TOB2HGNC:11980ENSG00000183864Q14106Protein Tob2gwas
TREHHGNC:12266ENSG00000118094O43280Trehalasegwas
TYRHGNC:12442ENSG00000077498P14679Tyrosinasegwas
UBASH3AHGNC:12462ENSG00000160185P57075Ubiquitin-associated and SH3 domain-containing protein Agwas
UBE2E2HGNC:12478ENSG00000182247Q96LR5Ubiquitin-conjugating enzyme E2 E2gwas
UNC5BHGNC:12568ENSG00000107731Q8IZJ1Netrin receptor UNC5Bgwas
CCN4HGNC:12769ENSG00000104415O95388CCN family member 4gwas
IKZF4HGNC:13179ENSG00000123411Q9H2S9Zinc finger protein Eosgwas
HUNKHGNC:13326ENSG00000142149P57058Hormonally up-regulated neu tumor-associated kinasegwas
CDH23HGNC:13733ENSG00000107736Q9H251Cadherin-23gwas
BCL2L12HGNC:13787ENSG00000126453Q9HB09Bcl-2-like protein 12gwas
ITCHHGNC:13890ENSG00000078747Q96J02E3 ubiquitin-protein ligase Itchy homologgwas
TSBP1HGNC:13922ENSG00000204296Q5SRN2Testis-expressed basic protein 1gwas
BACH2HGNC:14078ENSG00000112182Q9BYV9Transcription regulator protein BACH2gwas
C1QTNF6HGNC:14343ENSG00000133466Q9BXI9Complement C1q tumor necrosis factor-related protein 6gwas
CPVLHGNC:14399ENSG00000106066Q9H3G5Probable serine carboxypeptidase CPVLgwas
CASP7HGNC:1508ENSG00000165806P55210Caspase-7gwas
CBFA2T3HGNC:1537ENSG00000129993O75081Transcriptional corepressor CBFA2T3gwas
RALYHGNC:15921ENSG00000125970Q9UKM9RNA-binding protein Ralygwas
CCR6HGNC:1607ENSG00000112486P51684C-C chemokine receptor type 6gwas
FARP2HGNC:16460ENSG00000006607O94887FERM, ARHGEF and pleckstrin domain-containing protein 2gwas
ZMIZ1HGNC:16493ENSG00000108175Q9ULJ6Zinc finger MIZ domain-containing protein 1gwas
KIF1BHGNC:16636ENSG00000054523O60333Kinesin-like protein KIF1Bclinvar
CD44HGNC:1681ENSG00000026508P16070CD44 antigengwas
RBM17HGNC:16944ENSG00000134453Q96I25Splicing factor 45gwas
CD80HGNC:1700ENSG00000121594P33681T-lymphocyte activation antigen CD80gwas
CEP43HGNC:17012ENSG00000213066O95684Centrosomal protein 43gwas
ARID5BHGNC:17362ENSG00000150347Q14865AT-rich interactive domain-containing protein 5Bgwas
CLNKHGNC:17438ENSG00000109684Q7Z7G1Cytokine-dependent hematopoietic cell linkergwas
CDH13HGNC:1753ENSG00000140945P55290Cadherin-13gwas
CDK2HGNC:1771ENSG00000123374P24941Cyclin-dependent kinase 2gwas
RHOUHGNC:17794ENSG00000116574Q7L0Q8Rho-related GTP-binding protein RhoUgwas
TICAM1HGNC:18348ENSG00000127666Q8IUC6TIR domain-containing adapter molecule 1gwas
IFIH1HGNC:18873ENSG00000115267Q9BYX4Interferon-induced helicase C domain-containing protein 1gwas
CATSPERZHGNC:19231ENSG00000219435Q9NTU4Cation channel sperm-associated auxiliary subunit zetagwas
MAPK1IP1LHGNC:19840ENSG00000168175Q8NDC0MAPK-interacting and spindle-stabilizing protein-likegwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
RPS26Small ribosomal subunit protein eS26Component of the small ribosomal subunit.
ATXN2Ataxin-2Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
CXCR5C-X-C chemokine receptor type 5Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC).
PMELMelanocyte protein PMELForms physiological amyloids that play a central role in melanosome morphogenesis and pigmentation.
SLC1A2Excitatory amino acid transporter 2Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate.
STAT4Signal transducer and activator of transcription 4Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response.
STK25Serine/threonine-protein kinase 25Oxidant stress-activated serine/threonine kinase that may play a role in the response to environmental stress.
BTNL2Butyrophilin-like protein 2Negative regulator of T-cell proliferation.
SUOXSulfite oxidase, mitochondrialCatalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids.
TEFThyrotroph embryonic factorTranscription factor that binds to and transactivates the TSHB promoter.
TGThyroglobulinActs as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3).
TNFRSF11ATumor necrosis factor receptor superfamily member 11AReceptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis.
TNFSF11Tumor necrosis factor ligand superfamily member 11Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK.
FASLGTumor necrosis factor ligand superfamily member 6Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells.
TOB2Protein Tob2Anti-proliferative protein inhibits cell cycle progression from the G0/G1 to S phases.
TREHTrehalaseIntestinal trehalase is probably involved in the hydrolysis of ingested trehalose.
TYRTyrosinaseThis is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
UBASH3AUbiquitin-associated and SH3 domain-containing protein AInterferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases.
UBE2E2Ubiquitin-conjugating enzyme E2 E2Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.
UNC5BNetrin receptor UNC5BReceptor for netrin required for axon guidance.
CCN4CCN family member 4Downstream regulator in the Wnt/Frizzled-signaling pathway.
IKZF4Zinc finger protein EosDNA-binding protein that binds to the 5’GGGAATRCC-3’ Ikaros-binding sequence.
CDH23Cadherin-23Cadherins are calcium-dependent cell adhesion proteins.
ITCHE3 ubiquitin-protein ligase Itchy homologActs as an Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
BACH2Transcription regulator protein BACH2Transcriptional regulator that acts as a repressor or activator.
CPVLProbable serine carboxypeptidase CPVLMay be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.
CASP7Caspase-7Thiol protease involved in different programmed cell death processes, such as apoptosis, pyroptosis or granzyme-mediated programmed cell death, by proteolytically cleaving target proteins.
CBFA2T3Transcriptional corepressor CBFA2T3Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes.
RALYRNA-binding protein RalyRNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver.
CCR6C-C chemokine receptor type 6Receptor for the C-C type chemokine CCL20.
FARP2FERM, ARHGEF and pleckstrin domain-containing protein 2Functions as a guanine nucleotide exchange factor that activates RAC1.
ZMIZ1Zinc finger MIZ domain-containing protein 1Acts as a transcriptional coactivator.
KIF1BKinesin-like protein KIF1BHas a plus-end-directed microtubule motor activity and functions as a motor for transport of vesicles and organelles along microtubules.
CD44CD44 antigenCell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment.
RBM17Splicing factor 45Splice factor that binds to the single-stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step.
CD80T-lymphocyte activation antigen CD80Costimulatory molecule that belongs to the immunoglobulin superfamily that plays an important role in T-lymphocyte activation.
CEP43Centrosomal protein 43Required for anchoring microtubules to the centrosomes.
ARID5BAT-rich interactive domain-containing protein 5BTranscription coactivator that binds to the 5’-AATA[CT]-3’ core sequence and plays a key role in adipogenesis and liver development.
CLNKCytokine-dependent hematopoietic cell linkerAn adapter protein which plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation.
CDH13Cadherin-13Cadherins are calcium-dependent cell adhesion proteins.
CDK2Cyclin-dependent kinase 2Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis.
RHOURho-related GTP-binding protein RhoUBinds to and activates protein kinase PAK1.
TICAM1TIR domain-containing adapter molecule 1Involved in innate immunity against invading pathogens.
IFIH1Interferon-induced helicase C domain-containing protein 1Innate immune receptor which acts as a cytoplasmic sensor of viral nucleic acids and plays a major role in sensing viral infection and in the activation of a cascade of antiviral responses including the induction of type I interferons and…
CATSPERZCation channel sperm-associated auxiliary subunit zetaAuxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation.
SMOC2SPARC-related modular calcium-binding protein 2Promotes matrix assembly and cell adhesiveness.
AFMIDKynurenine formamidaseCatalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation.
RNASET2Ribonuclease T2Ribonuclease that plays an essential role in innate immune response by recognizing and degrading RNAs from microbial pathogens that are subsequently sensed by TLR8.
PARP12Protein mono-ADP-ribosyltransferase PARP12Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins.
COL19A1Collagen alpha-1(XIX) chainMay act as a cross-bridge between fibrils and other extracellular matrix molecules.

Protein-family classification

Druggable: 21 · Difficult: 13 · Unknown: 41 · Druggable fraction: 0.28

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Antibody/Immunoglobulin51.9×0.645
Kinase41.5×0.645
Scaffold/PPI61.4×0.645
Enzyme (other)81.3×0.645
Phosphatase11.1×0.875
Other/Unknown411.0×0.875
Transcription factor70.8×0.875
GPCR20.6×0.875
Protease10.5×0.875

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
RPS26Other/UnknownnoRibosomal_eS26, Ribosomal_eS26_sf, Ribosomal_eS26_CS
ATXN2Other/UnknownnoLsmAD_domain, PAM2_motif, LSM_dom_sf
CXCR5GPCRyesGPCR_Rhodpsn, Chemokine_CXCR5, GPCR_Rhodpsn_7TM
PMELAntibody/ImmunoglobulinyesPKD_dom, Ig-like_fold, PKD/Chitinase_dom
SLC1A2Other/UnknownnoNa-dicarboxylate_symporter, Na-dicarboxylate_symporter_CS, Na:dicarbo_symporter_sf
STAT4Transcription factornoSH2, STAT, p53-like_TF_DNA-bd_sf
STK25KinaseyesProt_kinase_dom, Kinase-like_dom_sf, Protein_kinase_ATP_BS
BTNL2Antibody/ImmunoglobulinyesIg_C1-set, Ig_sub, Ig-like_dom
SUOXEnzyme (other)yes1.8.3.1OxRdtase_Mopterin-bd_dom, Cyt_B5-like_heme/steroid-bd, MoCF_OxRdtse_dimer
TEFOther/UnknownnobZIP, PAR_bZIP, bZIP_sf
TGOther/UnknownnoThyroglobulin_1, CarbesteraseB, Tyr-kin_ephrin_A/B_rcpt-like
TNFRSF11AOther/UnknownnoTNFR/NGFR_Cys_rich_reg, TNFR_11, TNFR_11A
TNFSF11Other/UnknownnoTNF_dom, Tumour_necrosis_fac-like_dom, TNF_ligand_10/11
FASLGOther/UnknownnoTNF_dom, TNF, Tumour_necrosis_fac-like_dom
TOB2Other/UnknownnoAnti_prolifrtn, PAM2_motif, Tob1/2
TREHEnzyme (other)yes3.2.1.28Glyco_hydro_37, 6-hairpin_glycosidase_sf, 6hp_glycosidase-like_sf
TYREnzyme (other)yes1.14.18.1Tyrosinase_Cu-bd, Di-copper_centre_dom_sf, Tyrosinase/Hemocyanin
UBASH3APhosphataseyesSH3_domain, UBA-like_sf, His_Pase_superF_clade-1
UBE2E2Enzyme (other)yes2.3.2.23UBC, UBQ-conjugating_enzyme/RWD, UBQ-conjugating_AS
UNC5BAntibody/ImmunoglobulinyesDeath_dom, TSP1_rpt, ZU5_dom
CCN4Other/UnknownnoIGFBP-like, TSP1_rpt, VWF_dom
IKZF4Transcription factornoZnf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
HUNKKinaseyesProt_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
CDH23Other/UnknownnoCadherin-like_dom, Cadherin-like_sf, Cadherin_CS
BCL2L12Other/UnknownnoBcl-2-like_sf
ITCHScaffold/PPIno2.3.2.26C2_dom, HECT_dom, WW_dom
TSBP1Other/UnknownnoTSBP1
BACH2Transcription factornoBTB/POZ_dom, bZIP_Maf, bZIP
C1QTNF6Other/UnknownnoC1q_dom, Collagen, Tumour_necrosis_fac-like_dom
CPVLProteaseyesPeptidase_S10, Ser_caboxypep_ser_AS, AB_hydrolase_fold
CASP7Enzyme (other)yes3.4.22.60Pept_C14_p20, Pept_C14_p10, Pept_C14
CBFA2T3Transcription factornoZnf_MYND, TAFH_NHR1, CBFA2T1/2/3
RALYOther/UnknownnoRRM_dom, Nucleotide-bd_a/b_plait_sf, hnRNP_C
CCR6GPCRyesGPCR_Rhodpsn, Chemokine_rcpt, Chemokine_CCR6
FARP2Scaffold/PPInoDH_dom, FERM_domain, Ez/rad/moesin-like
ZMIZ1Transcription factornoZnf_MIZ, Znf_RING/FYVE/PHD, ZMIZ1_N
KIF1BScaffold/PPInoFHA_dom, Kinesin_motor_dom, PH_domain
CD44Other/UnknownnoLink_dom, CD44_antigen, C-type_lectin-like/link_sf
RBM17Other/UnknownnoG_patch_dom, RRM_dom, RRM_euk-type
CD80Antibody/ImmunoglobulinyesIg_sub, Ig-like_dom, Ig_V-set
CEP43Other/UnknownnoLisH, FOP_dimerisation-dom_N
ARID5BOther/UnknownnoARID_dom, ARID5B_ARID/BRIGHT_DNA-bd, ARID_dom_sf
CLNKScaffold/PPInoSH2, SH2_dom_sf, Immunoreceptor_sig_adapters
CDH13Other/UnknownnoCadherin-like_dom, Cadherin_pro_dom, Cadherin-like_sf
CDK2Kinaseyes2.7.11.22Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
RHOUOther/UnknownnoSmall_GTPase, Small_GTPase_Rho, Small_GTP-bd
TICAM1Other/UnknownnoTIR_dom, TICAM1, RHIM
IFIH1Other/UnknownnoHelicase_C-like, Helicase/UvrB_N, DEATH-like_dom_sf
CATSPERZOther/UnknownnoCATSPERZ
MAPK1IP1LOther/UnknownnoMISS

Expression context

Cohort genes with no expression data: 0.

68 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)1
broad (>20)74
unknown0

Top tissues across cohort

TissueCohort genes
granulocyte10
buccal mucosa cell7
lymph node6
primordial germ cell in gonad6
sural nerve6
ventricular zone6
male germ line stem cell (sensu Vertebrata) in testis6
monocyte5
secondary oocyte5
right hemisphere of cerebellum4
jejunal mucosa4
ganglionic eminence4
left testis4
right testis4
testis4
leukocyte4
sperm3
cerebellar hemisphere3
parotid gland3
tibia3

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
RPS26140ubiquitousmarkergranulocyte, left adrenal gland cortex, mucosa of transverse colon
ATXN2286ubiquitousmarkerbuccal mucosa cell, colonic epithelium, olfactory bulb
CXCR5172tissue_specificmarkergranulocyte, spleen, lymph node
PMEL175broadmarkerpigmented layer of retina, upper leg skin, mammalian vulva
SLC1A2227broadmarkerendothelial cell, entorhinal cortex, Brodmann (1909) area 23
STAT4201broadmarkergranulocyte, sperm, middle temporal gyrus
STK25271ubiquitousmarkerhindlimb stylopod muscle, right lobe of thyroid gland, right hemisphere of cerebellum
BTNL2106yessural nerve, ventricular zone, primordial germ cell in gonad
SUOX267ubiquitousmarkerright lobe of liver, right adrenal gland, right adrenal gland cortex
TEF269ubiquitousmarkercerebellar hemisphere, right hemisphere of cerebellum, cerebellar cortex
TG169tissue_specificmarkerright lobe of thyroid gland, left lobe of thyroid gland, thyroid gland
TNFRSF11A221broadmarkerparotid gland, mucosa of sigmoid colon, jejunal mucosa
TNFSF1198tissue_specificmarkerprimordial germ cell in gonad, tibia, lymph node
FASLG118tissue_specificmarkergranulocyte, blood, lymph node
TOB2293ubiquitousmarkercranial nerve II, paraflocculus, mucosa of stomach
TREH162tissue_specificmarkerjejunal mucosa, duodenum, small intestine
TYR59tissue_specificmarkerpigmented layer of retina, male germ line stem cell (sensu Vertebrata) in testis, upper leg skin
UBASH3A133broadmarkergranulocyte, blood, lymph node
UBE2E2255ubiquitousmarkersural nerve, oviduct epithelium, prefrontal cortex
UNC5B266ubiquitousmarkerinferior vagus X ganglion, mucosa of paranasal sinus, subthalamic nucleus
CCN4177broadyescartilage tissue, tibia, mucosa of paranasal sinus
IKZF4242ubiquitousmarkerbuccal mucosa cell, left adrenal gland, adrenal cortex
HUNK179broadmarkerganglionic eminence, ventricular zone, buccal mucosa cell
CDH23161broadmarkerventricular zone, left ovary, right ovary
BCL2L12205ubiquitousmarkerprimordial germ cell in gonad, gastrocnemius, hindlimb stylopod muscle
ITCH275ubiquitousmarkersperm, male germ cell, calcaneal tendon
TSBP158tissue_specificyesleft testis, testis, right testis
BACH2237ubiquitousmarkercortical plate, sural nerve, epithelium of nasopharynx
C1QTNF6170ubiquitousmarkerdecidua, right uterine tube, stromal cell of endometrium
CPVL264ubiquitousmarkermonocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 28.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CDK29,236
CD446,810
DDX65,922
FASLG4,373
RHOU3,874
CTLA43,863
IFIH13,706
CD803,664
TYR3,663
RALY3,651

Intra-cohort edges

ABSources
ATXN2DDX6intact, string_interaction
ATXN2SH2B3string_interaction
BACH2C1QTNF6string_interaction
BACH2SH2B3string_interaction
BACH2UBASH3Astring_interaction
BCL2L12CASP7string_interaction
BTNL2TSBP1string_interaction
C1QTNF6SH2B3string_interaction
C1QTNF6UBASH3Astring_interaction
CCN4RHOUstring_interaction
CCR6CEP43string_interaction
CCR6RNASET2string_interaction
CD80CTLA4biogrid_interaction, intact, string_interaction
CEP43RNASET2string_interaction
CLNKTOB2string_interaction
CTLA4IKZF4string_interaction
CTLA4PMELstring_interaction
DDX6PHLDB1string_interaction
FARP2STK25string_interaction
FBXO45NRROSstring_interaction
GPR137TRMT112string_interaction
IFIH1PARP12string_interaction
IFIH1TICAM1string_interaction
IKZF4SUOXstring_interaction
PHLDB1TREHstring_interaction
PMELTYRstring_interaction
SH2B3UBASH3Astring_interaction
TNFRSF11ATNFSF11intact, string_interaction

Structural data

PDB: 46 · AlphaFold-only: 27 · No structure: 2

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
CDK2P24941521
RPS26P62854190
CASP7P5521047
TRMT112Q9UI3027
CTLA4P1641022
PMELP4096720
ITCHQ96J0212
UBE2E2Q96LR510
IFIH1Q9BYX49
DDX6P261969
TICAM1Q8IUC68
SLC1A2P430047
CDH23Q9H2516
CD44P160706
CD80P336816
MICAL2O948515
STK25O005064
RBM17Q96I254
ADPRHP549224
CCDC22O608264
TGP012663
FASLGP480233
PARP12Q9H0J93
TNFSF11O147882
UBASH3AP570752
BACH2Q9BYV92
ARID5BQ148652
DGKAP237432
PPARGC1BQ86YN62
ATXN2Q997001

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
AFMIDQ63HM194.39
CPVLQ9H3G593.55
TREHO4328092.80
FBXO45P0C2W191.19
STAT4Q1476586.87
BTNL2Q9UIR085.97
SLC29A3Q9BZD282.40
CXCR5P3230280.85
UNC5BQ8IZJ177.60
C1QTNF6Q9BXI977.42
CCN4O9538877.16
PPP4R3BQ5MIZ776.48
FARP2O9488776.34
SMOC2Q9H3U773.88
BCL2L12Q9HB0967.61
TOB2Q1410666.37
GPR137Q96N1966.31
SH2B3Q9UQQ263.45
CATSPERZQ9NTU463.15
HUNKP5705862.83
PHLDB1Q86UU160.40
CLNKQ7Z7G156.93
COL19A1Q1499355.83
SPMIP7A4D26355.76
MAPK1IP1LQ8NDC051.99
SCAF1Q9H7N447.65
TSBP1Q5SRN245.58

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 544. Enrichment computed across 124 evidence-associated genes (83 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 83 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Interferon gamma signaling913.6×1e-05CD44, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DRA, HLA-DRB1, IRF3 (+1 more)
Phosphorylation of CD3 and TCR zeta chains532.8×9e-05HLA-DQA1, HLA-DRA, HLA-DRB1, PTPN22, PTPRC
Translocation of ZAP-70 to Immunological synapse430.6×0.001HLA-DQA1, HLA-DRA, HLA-DRB1, PTPN22
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)341.3×0.006CTLA4, IL2RA, FOXP3
Endosomal/Vacuolar pathway337.5×0.006HLA-A, HLA-B, HLA-C
Interferon alpha/beta signaling59.2×0.016HLA-A, HLA-B, HLA-C, IRF3, IRF4
Cytokine Signaling in Immune system94.4×0.016STAT4, FASLG, CD44, CD80, SH2B3, IL1RAPL1, IRF3, IRF4 (+1 more)
Programmed Cell Death58.8×0.017ITCH, CASP7, TICAM1, BAD, BCL2L11
Melanin biosynthesis255.0×0.024TYR, OCA2
Co-inhibition by CTLA4318.8×0.024CD80, CTLA4, PPP2R5C
Co-inhibition by PD-1318.8×0.024HLA-DQA1, HLA-DRA, HLA-DRB1
Immune System162.5×0.024STAT4, BTNL2, FASLG, ITCH, CCR6, CD44, CD80, TICAM1 (+8 more)
Diseases of signal transduction by growth factor receptors and second messengers74.8×0.026CD80, CEP43, KAT2A, IRF4, PPP2R5C, BAD, BCL2L11
Antigen Presentation: Folding, assembly and peptide loading of class I MHC314.2×0.046HLA-A, HLA-B, HLA-C
Co-stimulation by CD28313.8×0.047CD80, CTLA4, PPP2R5C
Apoptosis48.1×0.050CASP7, TICAM1, BAD, BCL2L11
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members230.6×0.055BAD, BCL2L11
Generation of second messenger molecules312.5×0.055HLA-DQA1, HLA-DRA, HLA-DRB1
Negative regulators of DDX58/IFIH1 signaling311.8×0.059ITCH, IFIH1, IRF3
SARS-CoV-2 activates/modulates innate and adaptive immune responses55.4×0.064IFIH1, HLA-A, HLA-B, HLA-C, IRF3
ZBP1(DAI) mediated induction of type I IFNs225.0×0.069TICAM1, IRF3
Intrinsic Pathway for Apoptosis310.6×0.069CASP7, BAD, BCL2L11
SARS-CoV-1 activates/modulates innate immune responses39.8×0.082ITCH, IFIH1, IRF3
Regulation of MITF-M-dependent genes involved in pigmentation39.6×0.083PMEL, TYR, IRF4
TBC/RABGAPs39.4×0.083RAB4A, RAB5B, RAB5C
Disease142.2×0.083RPS26, ITCH, CD80, CEP43, CDK2, TICAM1, SLC29A3, AHCY (+6 more)
Methylation219.7×0.084TRMT112, AHCY
TICAM1-dependent activation of IRF3/IRF7219.7×0.084TICAM1, IRF3
DDX58/IFIH1-mediated induction of interferon-alpha/beta39.2×0.084ITCH, IFIH1, IRF3
Caspase activation via Death Receptors in the presence of ligand218.4×0.090FASLG, TICAM1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 118 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
melanin biosynthetic process554.9×2e-05PMEL, TYR, MC1R, ASIP, OCA2
positive regulation of T cell mediated cytotoxicity626.0×5e-05HLA-A, HLA-B, HLA-C, HLA-DRA, HLA-DRB1, PTPRC
immune response145.6×7e-05CXCR5, TNFSF11, CCR6, CD80, NRROS, CTLA4, HLA-A, HLA-B (+6 more)
negative regulation of T cell receptor signaling pathway618.6×2e-04BTNL2, UBASH3A, CD80, CTLA4, LGALS3, PTPN22
regulation of T-helper cell differentiation3107.1×2e-04HLA-DRA, HLA-DRB1, IRF4
osteoclast differentiation617.5×2e-04TNFRSF11A, TNFSF11, TOB2, CCN4, FARP2, FOXP1
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation385.7×5e-04HLA-DRA, HLA-DRB1, FOXP3
regulation of endocytosis520.4×5e-04CDH13, PTPN1, RAB4A, RAB5B, RAB5C
protection from natural killer cell mediated cytotoxicity371.4×7e-04HLA-A, HLA-B, SERPINB9
T cell activation613.2×7e-04CD44, CD80, FOXP3, IRF4, PPP3CA, PTPRC
T cell receptor signaling pathway79.0×0.001BTNL2, CTLA4, HLA-A, HLA-DRB1, FOXP3, PTPN22, PTPRC
negative regulation of T cell proliferation514.0×0.002CD80, CTLA4, HLA-DRB1, IL2RA, FOXP3
antigen processing and presentation of endogenous peptide antigen via MHC class II2142.8×0.003HLA-DRA, HLA-DRB1
positive regulation of fever generation by positive regulation of prostaglandin secretion2142.8×0.003TNFRSF11A, TNFSF11
positive regulation of osteoclast differentiation419.7×0.003TNFRSF11A, TNFSF11, PPARGC1B, PPP3CA
detection of bacterium335.7×0.004HLA-A, HLA-B, HLA-DRB1
positive regulation of melanin biosynthetic process335.7×0.004PMEL, MC1R, ASIP
antigen processing and presentation of endogenous peptide antigen via MHC class Ib333.0×0.005HLA-A, HLA-B, HLA-C
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent333.0×0.005HLA-A, HLA-B, HLA-C
positive regulation of interleukin-2 production415.9×0.006BTNL2, CD80, IRF4, PTPRC
myeloid dendritic cell antigen processing and presentation295.2×0.007HLA-DRA, HLA-DRB1
positive regulation of T cell activation415.0×0.007TNFSF11, HLA-DQA1, HLA-DRA, HLA-DRB1
peptide antigen assembly with MHC class II protein complex326.8×0.008HLA-DQA1, HLA-DRA, HLA-DRB1
regulation of T cell anergy271.4×0.010HLA-B, FOXP3
T cell anergy271.4×0.010ITCH, FOXP3
melanin biosynthetic process from tyrosine271.4×0.010TYR, OCA2
regulation of interleukin-12 production271.4×0.010FOXP1, HLA-B
MDA-5 signaling pathway271.4×0.010IFIH1, IRF3
DN2 thymocyte differentiation271.4×0.010CCR6, PTPRC
positive regulation of CD4-positive, alpha-beta T cell activation271.4×0.010HLA-DRA, HLA-DRB1

Therapeutics

Drugs indicated for this disease

0 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
MethotrexatePhase 3 (in late-stage trials)
PovorcitinibPhase 3 (in late-stage trials)
RitlecitinibPhase 3 (in late-stage trials)
RuxolitinibPhase 3 (in late-stage trials)
Tacrolimus AnhydrousPhase 3 (in late-stage trials)
UpadacitinibPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Afamelanotide, Anifrolumab, Apremilast, Atorvastatin, Baricitinib, Crisaborole, Etanercept, Fluorouracil, Latanoprost, Pimecrolimus, Simvastatin, Sirolimus, Triamcinolone, Triamcinolone Acetonide.

Drug target analysis

Approved (phase 4): 8 · Phase ≥3: 9 · Phased (≥1): 13 · Undrugged: 62

Druggability breadth: 63 of 124 evidence-associated genes (51%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
RPS26GENTAMICIN SULFATE
STK25FEDRATINIB
TYRASCORBIC ACID
HUNKAXITINIB
CASP7ACRISORCIN
CCR6TEGASEROD MALEATE
CDK2PALBOCICLIB
PARP12NIRAPARIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
CDK2854
CASP7324
STK25184
HUNK134
TYR104
PARP1264
CCR634
SLC1A223
RPS2614
TREH12

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
GENTAMICIN SULFATE4RPS26
FEDRATINIB4STK25
RUXOLITINIB4STK25
NERATINIB4STK25
BOSUTINIB4HUNK, STK25
SUNITINIB4HUNK, STK25
DASATINIB4STK25
MIDOSTAURIN4HUNK, STK25
ASCORBIC ACID4TYR
HEXYLRESORCINOL4TYR
HYDROQUINONE4TYR
AXITINIB4HUNK
VANDETANIB4HUNK
ACRISORCIN4CASP7
CARBOPLATIN4CASP7
BITHIONOLATE SODIUM4CASP7
RIBOFLAVIN4CASP7
DACTINOMYCIN4CASP7
TOPOTECAN HYDROCHLORIDE4CASP7
FLUPIRTINE4CASP7
BITHIONOL4CASP7
METHOTREXATE4CASP7
AMSACRINE4CASP7
PRIMAQUINE PHOSPHATE4CASP7
HEXACHLOROPHENE4CASP7
NITROFURANTOIN4CASP7
TRIAMTERENE4CASP7
MESALAMINE4CASP7
RESERPINE4CASP7
DIPYRIDAMOLE4CASP7

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 11.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
CDK22,469Binding:2394, Functional:59, ADMET:14, Toxicity:2
STK25211Binding:211
TYR211Binding:209, ADMET:2
CASP7107Binding:99, Functional:8
SLC1A290Binding:84, Functional:6
RPS2689Binding:89
HUNK66Binding:66
CCR660Functional:33, Binding:27
DGKA43Binding:43
PARP1236Binding:36
CXCR533Binding:21, Functional:12
TNFSF1130Binding:30
STAT420Binding:20
RBM1712Binding:12
CD449Binding:9
ATXN25Binding:3, Functional:2
TREH4Binding:4
DDX64Binding:4
BACH23Binding:3
FASLG2Binding:2
ITCH2Binding:2
CEP432Binding:2
SLC29A32Binding:2
TRMT1122Binding:2
UBASH3A1Binding:1
KIF1B1Binding:1
IFIH11Binding:1
PHLDB11Binding:1
CTLA41Binding:1
CCDC221Binding:1
PPP4R3B1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
SUOX1.8.3.1sulfite oxidase
TREH3.2.1.28alpha,alpha-trehalase
TYR1.14.18.1tyrosinase
UBE2E22.3.2.23, 2.3.2.24E2 ubiquitin-conjugating enzyme, (E3-independent) E2 ubiquitin-conjugating enzyme
ITCH2.3.2.26, 2.3.2.B8HECT-type E3 ubiquitin transferase,
CASP73.4.22.60caspase-7
CDK22.7.11.22cyclin-dependent kinase
RNASET24.6.1.19ribonuclease T2
ADPRH3.2.2.19[protein ADP-ribosylarginine] hydrolase
DDX63.6.4.13RNA helicase
DGKA2.7.1.107diacylglycerol kinase (ATP)

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
STK25211
TYR211
CASP7107
CDK22,469

Pharmacogenomics

Cohort genes with a PharmGKB record: 74; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
GENTAMICIN SULFATE4RPS26
FEDRATINIB4STK25
NERATINIB4STK25
BOSUTINIB4HUNK, STK25
SUNITINIB4HUNK, STK25
DASATINIB4STK25
MIDOSTAURIN4HUNK, STK25
ASCORBIC ACID4TYR
HEXYLRESORCINOL4TYR
HYDROQUINONE4TYR
AXITINIB4HUNK
VANDETANIB4HUNK
ACRISORCIN4CASP7
CARBOPLATIN4CASP7
BITHIONOLATE SODIUM4CASP7
RIBOFLAVIN4CASP7
DACTINOMYCIN4CASP7
TOPOTECAN HYDROCHLORIDE4CASP7
FLUPIRTINE4CASP7
BITHIONOL4CASP7
METHOTREXATE4CASP7
AMSACRINE4CASP7
PRIMAQUINE PHOSPHATE4CASP7
HEXACHLOROPHENE4CASP7
NITROFURANTOIN4CASP7
TRIAMTERENE4CASP7
MESALAMINE4CASP7
RESERPINE4CASP7
DIPYRIDAMOLE4CASP7

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)8RPS26, STK25, TYR, HUNK, CASP7, CCR6, CDK2, PARP12
BPhased (≥1) drug, not yet approved5SLC1A2, TREH, RBM17, DDX6, DGKA
CDruggable family + PDB, no drug8PMEL, SUOX, UBASH3A, UBE2E2, CD80, RNASET2, CTLA4, ADPRH
DDruggable family + AlphaFold only, no drug4CXCR5, BTNL2, UNC5B, CPVL
EDifficult family or no structure, no drug50ATXN2, STAT4, TEF, TG, TNFRSF11A, TNFSF11, FASLG, TOB2, CCN4, IKZF4 (+40 more)

Undrugged target profiles

62 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
PMEL0TYR
BCL2L120CASP7
CEP432CCR6
PHLDB11TREH
ATXN25—
CXCR533—
STAT420—
BTNL20—
SUOX0—
TEF0—
TG0—
TNFRSF11A0—
TNFSF1130—
FASLG2—
TOB20—
UBASH3A1—
UBE2E20—
UNC5B0—
CCN40—
IKZF40—
CDH230—
ITCH2—
TSBP10—
BACH23—
C1QTNF60—
CPVL0—
CBFA2T30—
RALY0—
FARP20—
ZMIZ10—

Clinical trials & evidence

Clinical trials

Clinical trials: 224.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified128
PHASE235
PHASE418
PHASE313
PHASE113
PHASE2/PHASE310
EARLY_PHASE14
PHASE1/PHASE23

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05536856PHASE4RECRUITINGTopical 5-Fluorouracil Effervescent Powder in the Treatment of Vitiligo
NCT06593197PHASE4ENROLLING_BY_INVITATIONEfficacy and Safety of Apremilast in Combination with NBUVB and NBUVB Alone in Vitiligo Patients
NCT06991972PHASE4RECRUITINGComparison of Needling and Microneedling Plus Phototherapy in Localized Vitiligo Patients
NCT07352293PHASE4RECRUITINGThe Value of Methotrexate in NCES for Stable Vitiligo
NCT07353801PHASE4ACTIVE_NOT_RECRUITINGOral Mini Pulse Dexamethasone in Pediatric Vitiligo
NCT07472816PHASE4NOT_YET_RECRUITINGThe Value of Adding Mini-oral Pulse Steroid Therapy in Preventing Peri-lesional Halo Post Non-cultured Epidermal Cell Suspension (NCES) in Cases With Stable Segmental and Non-acral Vitiligo.
NCT01051687PHASE4COMPLETEDBotulinum Toxin Treatment for Localized Vitiligo
NCT01082393PHASE4COMPLETEDVitiligo and the Koebner Phenomenon (Model of Vitiligo Induction and Therapy: a Clinical and Immunological Analysis)
NCT01202513PHASE4WITHDRAWNTopical Bimatoprost Solution 0.03%in Stable Vitiligo
NCT01333410PHASE4UNKNOWNComparison of Efficacy and Safety of 0.1% Tacrolimus and 0.1% Mometasone Furoate for Adult Vitiligo
NCT01732965PHASE4COMPLETEDNB-UVB and PUVA Vitiligo Study
NCT03199664PHASE4UNKNOWNEffectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo
NCT04577027PHASE4UNKNOWNEffect Of Topical Prostaglandin F2α Analogs,Fractional CO2 Laser, Excimer Laser Or Their Combination In Treatment Of Vitiligo
NCT04775979PHASE4COMPLETEDDiphenylcyclopropenone (DPCP) as a Depigmenting Therapy in Extensive Vitiligo
NCT05008887PHASE4UNKNOWNFractional CO2 Laser-assisted Cutaneous Delivery of Methotrexate Versus 5-fluorouracil in Stable Non-segmental Vitiligo
NCT05676333PHASE4COMPLETEDSecukinumab in Active Non-segmental Vitiligo
NCT07174024PHASE4COMPLETEDA Comparative Study on the Efficacy of Blue Light Emitting Diodes Therapy Versus Targeted Narrow Band UVB in Stable Non-segmental Vitiligo Patients.
NCT07368673PHASE4COMPLETEDComparative Effectiveness of Ruxolitinib Monotherapy Versus Its Combination With Tacrolimus and Corticosteroids in the Management of Vitiligo: A Randomized Controlled Trial
NCT06109649PHASE3ACTIVE_NOT_RECRUITINGA Study to Compare the Efficacy and Safety of SCENESSE and Narrow-Band Ultraviolet (NB-UVB) Light Versus NB-UVB Light Alone in Patients With Vitiligo
NCT06118411PHASE3ACTIVE_NOT_RECRUITINGA Study To Assess Adverse Events and Effectiveness of Upadacitinib Oral Tablets in Adult and Adolescent Participants With Vitiligo
NCT06163326PHASE3ACTIVE_NOT_RECRUITINGA 52-Week Study to Learn About the Safety and Effects of Ritlecitinib in Participants With Nonsegmental Vitiligo
NCT06719024PHASE2/PHASE3RECRUITINGTopical Ruxolitinib for Face and Neck Vitiligo of Adult Chinese Patients Refractory to Topical Tacrolimus
NCT07509242PHASE2/PHASE3NOT_YET_RECRUITINGComparative Efficacy of hUCMSC-Secretome Delivered Via Microneedling and Intradermal Microinjection as Adjuvant Therapy to NB-UVB in Nonsegmental Vitiligo: A Quasi-Experimental Study
NCT07595939PHASE3NOT_YET_RECRUITINGEfficacy and Safety of Ruxolitinib Cream in Chinese Children Aged 2-11 Years With Non-segmental Vitiligo
NCT00525395PHASE3UNKNOWNVirus Early Transcription Factor (VETF) Multicenter Phototherapy Protocol
NCT00631865PHASE3COMPLETEDAutologous Transplantation of Melanocytes for Treatment of Vitiligo Skin
NCT00696358PHASE3COMPLETEDExcimer Lamp Versus Excimer Laser in Vitiligo Treatment
NCT00807690PHASE3COMPLETEDVitiligo Treated With TL01 Combined With Tacrolimus Ointment Versus Placebo
NCT00830713PHASE3COMPLETEDVitiligo Skin Transplantation
NCT01087216PHASE2/PHASE3COMPLETEDInterest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo
NCT01419964PHASE3WITHDRAWNEfficacy and Safety of ACH24 in the Treatment of Vitiligo
NCT01629979PHASE2/PHASE3COMPLETEDEpidermal Cell Transplantation in Vitiligo Skin
NCT01822379PHASE2/PHASE3WITHDRAWNComparative Study of Techniques in Melanocyte-Keratinocyte Transplantation for the Treatment of Vitiligo
NCT01841008PHASE2/PHASE3TERMINATEDMaintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control
NCT02156427PHASE3COMPLETEDEvaluation of Non-cultured Epidermal Cellular Grafting vs Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism
NCT02191748PHASE2/PHASE3TERMINATEDAssessing the Efficacy of Needling With or Without Corticosteroids in the Repigmentation of Vitiligo
NCT02466997PHASE3COMPLETEDEfficacy of Tacrolimus in Adults With Facial Non-segmental Vitiligo - VITAC
NCT03611348PHASE2/PHASE3UNKNOWNMicroneedling and Latanoprost in Acrofacial Vitiligo
NCT04530344PHASE3COMPLETEDAssess the Long Term Efficacy and Safety of Ruxolitinib Cream in Participants With Vitiligo
NCT04774809PHASE2/PHASE3TERMINATEDAssess the Efficacy and Safety of SHR0302 Ointment in Adult Patients With Vitiligo

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
TACROLIMUS ANHYDROUS414
AFAMELANOTIDE45
RUXOLITINIB43
APREMILAST42
BIMATOPROST42
LATANOPROST42
RITLECITINIB42
UPADACITINIB42
AZATHIOPRINE41
BARICITINIB41
BECLOMETHASONE DIPROPIONATE41
CRISABOROLE41
FLUOROURACIL41
METFORMIN41
MOMETASONE FUROATE41
PIMECROLIMUS41
SECUKINUMAB41
TILDRAKIZUMAB41
TOFACITINIB41
TRAVOPROST41
TRIAMCINOLONE41
TYROSINE41
COLD CREAM31
BECLOMETHASONE21
CERDULATINIB21
DIBOTATUG21
IDREBORMILAST21
IFIDANCITINIB21
DIPHENCYPRONE11
CHEMBL463716303

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 72

This page pulls from 72 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmicd11intactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot