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Atlas / Disease / Acne

Acne

disease
On this page

Also known as acne (disease)acne varioliformisacne vulgarisacne, adult

Summary

Acne (MONDO:0011438) is a disease with 75 cohort genes (147 GWAS associations across 18 studies) and 714 clinical trials. The dominant Reactome pathway is Hemostasis (10 cohort genes). Top therapeutic interventions include clindamycin, adapalene, and doxycycline anhydrous.

At a glance

  • Cohort genes: 75
  • GWAS associations: 147
  • Clinical trials: 714

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameacne
Mondo IDMONDO:0011438
EFOEFO:0003894
DOIDDOID:6543
ICD-10-CML70
ICD-111892393023
NCITC27195
UMLSC0702166
MedGen152379
Is cancer (heuristic)no

Also known as: acne · acne (disease) · acne varioliformis · acne vulgaris · acne, adult

Data availability: 147 GWAS associations (18 studies) · 1 HPO phenotype · 2 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

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

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, vitiligo, 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 (1): adult acne

Genetics & variants

GWAS landscape

147 GWAS associations across 18 studies. Top hits map to 28 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs345602613e-35SEMA4BC1.25
rs38491542e-28RASSF10 - BMAL1T1.15
rs6297254e-28RPL13AP13 - FSTT1.15
rs12565801e-27LYPLAL1-DTC1.19
rs743339503e-23WNT10AT1.2
rs14813625e-22U3 - NXNP1A1.1
rs617443849e-22PCNX3T1.12
rs377761e-20RPL13AP13 - FSTC1.1
rs1449080222e-18SYVN1, MRPL49G1.61
rs802932682e-17ERRFI1-DTC1.17
rs1583433e-16RNU6ATAC2P - HMGN1P17G1.13
rs131046886e-16AFG2AG1.11
rs168740361e-15FGF10G1.11
rs71943052e-15CLEC16AA1.1
rs110226663e-15RASSF10 - BMAL1T1.08
rs73120101e-14BORCS5A1.1
rs115833951e-14U3 - NXNP1A0.11
rs119037671e-14RNA5SP94 - MIR4432HGG0.11
rs29010003e-14RNA5SP94 - MIR4432HGA1.09
rs1745944e-14FADS2C1.08
rs27273652e-13RASSF10 - BMAL1G1.18
rs172657032e-13CSTAG1.13
rs107348522e-13BORCS5A1.07
chr1:1829708372e-13G0.14
chr1:2188479902e-13G0.14
rs1449910695e-13NAALADL1 - CDCA5A1.91
rs1219081202e-12WNT10AT1.94
rs96777522e-12CDK5R2 - LINC00608A0.18
rs2606433e-12EDARA1.15
rs109112684e-12LAMC1 - LAMC2C1.17

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90245818Teder-Laving M202334,422364,991Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris.
GCST90092000Mitchell BL202220,165595,231Genome-wide association meta-analysis identifies 29 new acne susceptibility loci.
GCST90476211Verma A20245,873437,092Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473961UK Biobank Whole-Genome Sequencing Consortium20255,714452,726Whole-genome sequencing of 490,640 UK Biobank participants.
GCST007234Petridis C20185,60221,120Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
GCST90478841Verma A20244,324114,193Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480481Verma A20244,324114,193Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90727047Kim HI20264,05239,974Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90651857Liu TY20252,621227,516Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST002481Navarini AA20141,8935,132Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR1
Tier 3: regulatory2
Tier 4: intronic/intergenic46

MAF distribution

BucketVariants
common (>=0.05)47
low_freq (0.01-0.05)3
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant33
intergenic_variant10
regulatory_region_variant2
unknown2
synonymous_variant1
missense_variant1
5_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs345602611590191194C>T0.165intron_variantSEMA4B3e-35Tier 4: intronic/intergenic
rs38491541113102977G>T0.324intron_variantRASSF10 - BMAL12e-28Tier 4: intronic/intergenic
rs629725553335237T>A,C0.339regulatory_region_variantRPL13AP13 - FST4e-28Tier 3: regulatory
rs12565801219026038G>A,C0.152intron_variantLYPLAL1-DT1e-27Tier 4: intronic/intergenic
rs743339502218881570T>G0.14intron_variantWNT10A3e-23Tier 4: intronic/intergenic
rs14813621218685403G>A,C0.418intergenic_variantU3 - NXNP15e-22Tier 4: intronic/intergenic
rs617443841165619907T>A,C,G0.441synonymous_variantPCNX39e-22Tier 4: intronic/intergenic
rs37776553332300C>A,G,T0.353intergenic_variantRPL13AP13 - FST1e-20Tier 4: intronic/intergenic
rs1449080221165124726A>C,G0.01intron_variantSYVN1, MRPL492e-18Tier 4: intronic/intergenic
rs8029326818147519G>A,C0.08intron_variantERRFI1-DT2e-17Tier 4: intronic/intergenic
rs158343556329078C>A,G,T0.201intron_variantRNU6ATAC2P - HMGN1P173e-16Tier 4: intronic/intergenic
rs131046884123258364G>C,T0.343intron_variantAFG2A6e-16Tier 4: intronic/intergenic
rs16874036544366450G>A0.307intron_variantFGF101e-15Tier 4: intronic/intergenic
rs71943051611005850A>G,T0.416intron_variantCLEC16A2e-15Tier 4: intronic/intergenic
rs110226661113109012C>G,T0.349intron_variantRASSF10 - BMAL13e-15Tier 4: intronic/intergenic
rs73120101212459502A>G,T0.406intron_variantBORCS51e-14Tier 4: intronic/intergenic
rs115833951218667821A>G,T0.422intron_variantU3 - NXNP11e-14Tier 4: intronic/intergenic
rs11903767260284475G>A,C0.462intergenic_variantRNA5SP94 - MIR4432HG1e-14Tier 4: intronic/intergenic
rs2901000260274081A>G,T0.428intergenic_variantRNA5SP94 - MIR4432HG3e-14Tier 4: intronic/intergenic
rs1745941161852357C>A,T0.379intron_variantFADS24e-14Tier 4: intronic/intergenic
rs27273651113089937G>A,T0.32intron_variantRASSF10 - BMAL12e-13Tier 4: intronic/intergenic
rs172657033122329797A>G0.152intron_variantCSTA2e-13Tier 4: intronic/intergenic
rs107348521212451843A>C,G0.462intron_variantBORCS52e-13Tier 4: intronic/intergenic
chr1:1829708370.4742e-13Tier 4: intronic/intergenic
chr1:2188479900.4482e-13Tier 4: intronic/intergenic
rs1449910691165060236T>A0.01intergenic_variantNAALADL1 - CDCA55e-13Tier 4: intronic/intergenic
rs1219081202218890289T>A0.03missense_variantWNT10A2e-12Tier 1: coding
rs96777522218966948A>G0.112intergenic_variantCDK5R2 - LINC006082e-12Tier 4: intronic/intergenic
rs2606432108923197A>G0.1intron_variantEDAR3e-12Tier 4: intronic/intergenic
rs109112681183153583C>A,G0.4intergenic_variantLAMC1 - LAMC24e-12Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 23 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
RPL15Orphanet:124Diamond-Blackfan anemia
TGFAOrphanet:99798Oligodontia
TGFB2Orphanet:60030Loeys-Dietz syndrome
TGFB2Orphanet:91387Familial thoracic aortic aneurysm and aortic dissection
THRBOrphanet:566243Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
TIA1Orphanet:603Distal myopathy, Welander type
BCL11AOrphanet:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
BCL11AOrphanet:619233Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
WNT10AOrphanet:248Autosomal recessive hypohidrotic ectodermal dysplasia
WNT10AOrphanet:2721Odonto-onycho-dermal dysplasia
WNT10AOrphanet:50944Schöpf-Schulz-Passarge syndrome
WNT10AOrphanet:99798Oligodontia
SCYL1Orphanet:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
UPB1Orphanet:65287Beta-ureidopropionase deficiency
MLC1Orphanet:2478Megalencephalic leukoencephalopathy with subcortical cysts
LARS2Orphanet:528091Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
LARS2Orphanet:642945Perrault syndrome type 1
LARS2Orphanet:642976Perrault syndrome type 2
CATSPER1Orphanet:276234Non-syndromic male infertility due to sperm motility disorder
KIF15Orphanet:26132321q22.11q22.12 microdeletion syndrome
BANF1Orphanet:280576Nestor-Guillermo progeria syndrome
TUBGCP6Orphanet:2518Autosomal recessive chorioretinopathy-microcephaly syndrome
ALG12Orphanet:79324ALG12-CDG

Cohort genes → proteins

75 cohort genes, 72 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only75

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
RNF8HGNC:10071ENSG00000112130O76064E3 ubiquitin-protein ligase RNF8gwas
BCRP3HGNC:1016ENSG00000284128BCR pseudogene 3gwas
RNU6-1HGNC:10227ENSG00000206625RNA, U6 small nuclear 1gwas
RPL15HGNC:10306ENSG00000174748P61313Large ribosomal subunit protein eL15gwas
SART1HGNC:10538ENSG00000175467O43290U4/U6.U5 tri-snRNP-associated protein 1gwas
SELLHGNC:10720ENSG00000188404P14151L-selectingwas
SELPLGHGNC:10722ENSG00000110876Q14242P-selectin glycoprotein ligand 1gwas
SEMA4BHGNC:10730ENSG00000185033Q9NPR2Semaphorin-4Bgwas
SF3B2HGNC:10769ENSG00000087365Q13435Splicing factor 3B subunit 2gwas
SIPA1HGNC:10885ENSG00000213445Q96FS4Signal-induced proliferation-associated protein 1gwas
BRD1HGNC:1102ENSG00000100425O95696Bromodomain-containing protein 1gwas
SNRPD3HGNC:11160ENSG00000100028P62318Small nuclear ribonucleoprotein Sm D3gwas
SNRPGHGNC:11163ENSG00000143977P62308Small nuclear ribonucleoprotein Ggwas
ZNRD2HGNC:11328ENSG00000173465O60232Protein ZNRD2gwas
TGFAHGNC:11765ENSG00000163235P01135Protransforming growth factor alphagwas
TGFB2HGNC:11768ENSG00000092969P61812Transforming growth factor beta-2 proproteingwas
TGM4HGNC:11780ENSG00000163810P49221Protein-glutamine gamma-glutamyltransferase 4gwas
THRBHGNC:11799ENSG00000151090P10828Thyroid hormone receptor betagwas
TIA1HGNC:11802ENSG00000116001P31483Cytotoxic granule associated RNA binding protein TIA1gwas
CLEC3BHGNC:11891ENSG00000163815P05452Tetranectingwas
TNKSHGNC:11941ENSG00000173273O95271Poly [ADP-ribose] polymerase tankyrase-1gwas
TOP1P2HGNC:11988DNA topoisomerase I pseudogene 2gwas
UBE2E1HGNC:12477ENSG00000170142P51965Ubiquitin-conjugating enzyme E2 E1gwas
UBE2E2HGNC:12478ENSG00000182247Q96LR5Ubiquitin-conjugating enzyme E2 E2gwas
VAX2HGNC:12661ENSG00000116035Q9UIW0Ventral anterior homeobox 2gwas
BCL11AHGNC:13221ENSG00000119866Q9H165BCL11 transcription factor Agwas
FOSL1HGNC:13718ENSG00000175592P15407Fos-related antigen 1gwas
WNT10AHGNC:13829ENSG00000135925Q9GZT5Protein Wnt-10agwas
GUCD1HGNC:14237ENSG00000138867Q96NT3Protein GUCD1gwas
SCYL1HGNC:14372ENSG00000142186Q96KG9N-terminal kinase-like proteingwas
PPP1R3BHGNC:14942ENSG00000173281Q86XI6Protein phosphatase 1 regulatory subunit 3Bgwas
PAPOLGHGNC:14982ENSG00000115421Q9BWT3Poly(A) polymerase gammagwas
KCNIP1HGNC:15521ENSG00000182132Q9NZI2A-type potassium channel modulatory protein KCNIP1gwas
CDC42EP2HGNC:16263ENSG00000149798O14613Cdc42 effector protein 2gwas
UPB1HGNC:16297ENSG00000100024Q9UBR1Beta-ureidopropionasegwas
FAM89BHGNC:16708ENSG00000176973Q8N5H3Leucine repeat adapter protein 25gwas
SART3HGNC:16860ENSG00000075856Q15020Spliceosome associated factor 3, U4/U6 recycling proteingwas
MFHAS1HGNC:16982ENSG00000147324Q9Y4C4Malignant fibrous histiocytoma-amplified sequence 1gwas
PWP1HGNC:17015ENSG00000136045Q13610Periodic tryptophan protein 1 homologgwas
SACM1LHGNC:17059ENSG00000211456Q9NTJ5Phosphatidylinositol-3-phosphatase SAC1gwas
MLC1HGNC:17082ENSG00000100427Q15049Membrane protein MLC1gwas
LARS2HGNC:17095ENSG00000011376Q15031Leucine–tRNA ligase, mitochondrialgwas
CATSPER1HGNC:17116ENSG00000175294Q8NEC5Cation channel sperm-associated protein 1gwas
KIF15HGNC:17273ENSG00000163808Q9NS87Kinesin-like protein KIF15gwas
BANF1HGNC:17397ENSG00000175334O75531Barrier-to-autointegration factorgwas
MTCH1HGNC:17586ENSG00000137409Q9NZJ7Mitochondrial carrier homolog 1gwas
NKIRAS1HGNC:17899ENSG00000197885Q9NYS0NF-kappa-B inhibitor-interacting Ras-like protein 1gwas
CD207HGNC:17935ENSG00000116031Q9UJ71C-type lectin domain family 4 member Kgwas
ZFAND3HGNC:18019ENSG00000156639Q9H8U3AN1-type zinc finger protein 3gwas
TUBGCP6HGNC:18127ENSG00000128159Q96RT7Gamma-tubulin complex component 6gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
RNF8E3 ubiquitin-protein ligase RNF8E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the ‘Lys-63’-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand…
RPL15Large ribosomal subunit protein eL15Component of the large ribosomal subunit.
SART1U4/U6.U5 tri-snRNP-associated protein 1Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome.
SELLL-selectinCalcium-dependent lectin that mediates cell adhesion by binding to glycoproteins on neighboring cells.
SELPLGP-selectin glycoprotein ligand 1A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation.
SEMA4BSemaphorin-4BInhibits axonal extension by providing local signals to specify territories inaccessible for growing axons.
SF3B2Splicing factor 3B subunit 2Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs.
SIPA1Signal-induced proliferation-associated protein 1GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state.
BRD1Bromodomain-containing protein 1Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis.
SNRPD3Small nuclear ribonucleoprotein Sm D3Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome.
SNRPGSmall nuclear ribonucleoprotein GPlays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome.
ZNRD2Protein ZNRD2Might play a role in mitosis.
TGFAProtransforming growth factor alphaTGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar.
TGFB2Transforming growth factor beta-2 proproteinPrecursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.
TGM4Protein-glutamine gamma-glutamyltransferase 4Associated with the mammalian reproductive process.
THRBThyroid hormone receptor betaNuclear hormone receptor that can act as a repressor or activator of transcription.
TIA1Cytotoxic granule associated RNA binding protein TIA1RNA-binding protein involved in the regulation of alternative pre-RNA splicing and mRNA translation by binding to uridine-rich (U-rich) RNA sequences.
CLEC3BTetranectinTetranectin binds to plasminogen and to isolated kringle 4.
TNKSPoly [ADP-ribose] polymerase tankyrase-1Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking.
UBE2E1Ubiquitin-conjugating enzyme E2 E1Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.
UBE2E2Ubiquitin-conjugating enzyme E2 E2Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins.
VAX2Ventral anterior homeobox 2Transcription factor that may function in dorsoventral specification of the forebrain.
BCL11ABCL11 transcription factor ATranscription factor.
WNT10AProtein Wnt-10aLigand for members of the frizzled family of seven transmembrane receptors.
SCYL1N-terminal kinase-like proteinRegulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum.
PPP1R3BProtein phosphatase 1 regulatory subunit 3BActs as a glycogen-targeting subunit for phosphatase PP1.
PAPOLGPoly(A) polymerase gammaResponsible for the post-transcriptional adenylation of the 3’-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA.
KCNIP1A-type potassium channel modulatory protein KCNIP1Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels.
CDC42EP2Cdc42 effector protein 2Probably involved in the organization of the actin cytoskeleton.
UPB1Beta-ureidopropionaseCatalyzes a late step in pyrimidine degradation.
FAM89BLeucine repeat adapter protein 25Negatively regulates TGF-beta-induced signaling; in cooperation with SKI prevents the translocation of SMAD2 from the nucleus to the cytoplasm in response to TGF-beta.
SART3Spliceosome associated factor 3, U4/U6 recycling proteinU6 snRNP-binding protein that functions as a recycling factor of the splicing machinery.
MFHAS1Malignant fibrous histiocytoma-amplified sequence 1Probable GTP-binding protein.
PWP1Periodic tryptophan protein 1 homologChromatin-associated factor that regulates transcription.
SACM1LPhosphatidylinositol-3-phosphatase SAC1Phosphoinositide phosphatase which catalyzes the hydrolysis of phosphatidylinositol 4-phosphate (PtdIns(4)P).
MLC1Membrane protein MLC1Transmembrane protein mainly expressed in brain astrocytes that may play a role in transport across the blood-brain and brain-cerebrospinal fluid barriers.
LARS2Leucine–tRNA ligase, mitochondrialCatalyzes the attachment of leucine to its cognate tRNA.
CATSPER1Cation channel sperm-associated protein 1Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acros…
KIF15Kinesin-like protein KIF15Plus-end directed kinesin-like motor enzyme involved in mitotic spindle assembly.
BANF1Barrier-to-autointegration factorNon-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA.
MTCH1Mitochondrial carrier homolog 1Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane.
NKIRAS1NF-kappa-B inhibitor-interacting Ras-like protein 1Atypical Ras-like protein that acts as a potent regulator of NF-kappa-B activity by preventing the degradation of NF-kappa-B inhibitor beta (NFKBIB) by most signals, explaining why NFKBIB is more resistant to degradation.
CD207C-type lectin domain family 4 member KCalcium-dependent lectin displaying mannose-binding specificity.
TUBGCP6Gamma-tubulin complex component 6Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation.
HDAC10Polyamine deacetylase HDAC10Polyamine deacetylase (PDAC), which acts preferentially on N(8)-acetylspermidine, and also on acetylcadaverine and acetylputrescine.
FICDProtein adenylyltransferase FICDProtein that can both mediate the addition of adenosine 5’-monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context.
PIWIL3Piwi-like protein 3May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity.
ZDHHC3Palmitoyltransferase ZDHHC3Golgi-localized palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates.
CFL1Cofilin-1Binds to F-actin and exhibits pH-sensitive F-actin depolymerizing activity.
PPP6R2Serine/threonine-protein phosphatase 6 regulatory subunit 2Regulatory subunit of protein phosphatase 6 (PP6).

Protein-family classification

Druggable: 18 · Difficult: 14 · Unknown: 43 · Druggable fraction: 0.24

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
Nuclear receptor15.2×0.590
Scaffold/PPI71.6×0.590
Enzyme (other)91.4×0.590
Complement13.6×0.612
Ion channel11.5×0.820
Other/Unknown431.0×0.820
Antibody/Immunoglobulin20.8×0.827
Transcription factor70.8×0.827
Kinase20.7×0.827
GPCR20.6×0.827

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
RNF8Transcription factorno2.3.2.27FHA_dom, Znf_RING, SMAD_FHA_dom_sf
BCRP3Other/Unknownno
RNU6-1Other/Unknownno
RPL15Other/UnknownnoRibosomal_eL15, Ribosomal_uL23/eL15/eS24_sf, Ribosomal_eL15_CS
SART1Other/UnknownnoSNU66/SART1, HIND
SELLComplementyesSushi_SCR_CCP_dom, EGF, C-type_lectin-like
SELPLGOther/UnknownnoPSGL-1
SEMA4BScaffold/PPInoSemap_dom, Plexin_repeat, WD40/YVTN_repeat-like_dom_sf
SF3B2Other/UnknownnoSAP_dom, PSP_pro-rich, DUF382
SIPA1Scaffold/PPInoRap/Ran_GAP_dom, PDZ, Rap/Ran-GAP_sf
BRD1Transcription factornoPWWP_dom, Bromodomain, Znf_PHD
SNRPD3Other/UnknownnoSm_dom_euk/arc, LSM_dom_sf, LSm4/Sm_D1/D3
SNRPGOther/UnknownnoSm_dom_euk/arc, LSM_dom_sf, Sm_G
ZNRD2Other/UnknownnoZNRD2_N, UPF0148_domain
TGFAOther/UnknownnoEGF
TGFB2Other/UnknownnoTGF-b_propeptide, TGF-b_C, TGFb2
TGM4Antibody/Immunoglobulinyes2.3.2.13Transglutaminase_N, Transglutaminase-like, Transglutaminase_C
THRBNuclear receptoryesNucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
TIA1Other/UnknownnoRRM_dom, RRM_euk-type, Nucleotide-bd_a/b_plait_sf
CLEC3BOther/UnknownnoC-type_lectin-like, C-type_lectin-like/link_sf, CTDL_fold
TNKSScaffold/PPIno2.4.2.30SAM, Ankyrin_rpt, Poly(ADP-ribose)pol_cat_dom
TOP1P2Other/Unknownno
UBE2E1Enzyme (other)yes2.3.2.23UBC, UBQ-conjugating_enzyme/RWD, UBQ-conjugating_AS
UBE2E2Enzyme (other)yes2.3.2.23UBC, UBQ-conjugating_enzyme/RWD, UBQ-conjugating_AS
VAX2Transcription factornoHTH_motif, HD, Homeodomain-like_sf
BCL11ATranscription factornoZnf_C2H2_type, Znf_C2H2_sf, Dev/Hematopoietic_TF
FOSL1Other/UnknownnoAP-1, bZIP, bZIP_sf
WNT10AOther/UnknownnoWnt, Wnt10, Wnt_CS
GUCD1Other/UnknownnoGUCD1
SCYL1KinaseyesProt_kinase_dom, Kinase-like_dom_sf, ARM-like
PPP1R3BOther/UnknownnoCBM21_dom, Pase-1_reg-su_3B/C/D_met, PP1_3B
PAPOLGEnzyme (other)yes2.7.7.19PolA_pol_RNA-bd_dom, PolA_pol_cen_dom, NuclTrfase_I-like_C
KCNIP1Other/UnknownnoEF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS
CDC42EP2Other/UnknownnoCRIB_dom, Cdc42_effector_prot_2, Cdc42_effect-like
UPB1Enzyme (other)yes3.5.1.6C-N_Hydrolase, C-N_Hydrolase_sf, Aliph_Amidase/BUP
FAM89BOther/UnknownnoLURA1/LRA25
SART3Other/UnknownnoRRM_dom, HAT, LSM_interact
MFHAS1Other/UnknownnoLeu-rich_rpt, Leu-rich_rpt_typical-subtyp, ROC
PWP1Scaffold/PPInoWD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_CS
SACM1LOther/UnknownnoSAC_dom
MLC1Other/UnknownnoMembrane_MLC1
LARS2Enzyme (other)yes6.1.1.4aa-tRNA-synth_I_CS, aa-tRNA-synth_Ia, Leu-tRNA-ligase
CATSPER1Ion channelyesIon_trans_dom, Volt_channel_dom_sf, CatSper1
KIF15Other/UnknownnoKinesin_motor_dom, P-loop_NTPase, HMMR_C
BANF1Other/UnknownnoBAF_prot, BAF_sf, BAF
MTCH1Other/UnknownnoMCP_transmembrane, MCP_dom_sf
NKIRAS1Other/UnknownnoSmall_GTPase, Small_GTP-bd, P-loop_NTPase
CD207Other/UnknownnoC-type_lectin-like, C-type_lectin-like/link_sf, CTDL_fold
ZFAND3Transcription factornoZnf_AN1, Znf_A20, AN1-like_Znf
TUBGCP6Other/UnknownnoGCP, GCP_C, GCP_N

Expression context

Cohort genes with no expression data: 1.

62 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)73
unknown1

Top tissues across cohort

TissueCohort genes
ganglionic eminence10
ventricular zone8
cortical plate7
apex of heart7
secondary oocyte7
left testis6
lower esophagus mucosa6
oocyte6
male germ line stem cell (sensu Vertebrata) in testis6
cerebellar hemisphere5
granulocyte5
Brodmann (1909) area 235
right testis4
hindlimb stylopod muscle4
cerebellar cortex4
endothelial cell4
testis3
sural nerve3
tendon of biceps brachii3
blood3

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
RNF8284ubiquitousmarkercortical plate, ganglionic eminence, cerebellar hemisphere
BCRP3134markermetanephros cortex, left testis, testis
RNU6-1117broadyessural nerve, adrenal tissue, corpus callosum
RPL15303ubiquitousmarkerleft ovary, cortical plate, right ovary
SART1292ubiquitousmarkertendon of biceps brachii, lower esophagus mucosa, apex of heart
SELL216broadmarkerblood, monocyte, leukocyte
SELPLG255broadmarkergranulocyte, blood, leukocyte
SEMA4B212ubiquitousmarkerileal mucosa, esophagus mucosa, lower esophagus mucosa
SF3B2292ubiquitousmarkerventricular zone, left testis, right testis
SIPA1191ubiquitousmarkergranulocyte, spleen, lower esophagus mucosa
BRD1289ubiquitousmarkeroocyte, secondary oocyte, paraflocculus
SNRPD3151ubiquitousmarkerembryo, ganglionic eminence, islet of Langerhans
SNRPG140ubiquitousmarkerembryo, ganglionic eminence, ventricular zone
ZNRD2189ubiquitousmarkerbody of pancreas, apex of heart, hindlimb stylopod muscle
TGFA252broadyesesophagus squamous epithelium, epithelium of esophagus, squamous epithelium
TGFB2206ubiquitousmarkercalcaneal tendon, tendon, cartilage tissue
TGM4100tissue_specificyesmale germ line stem cell (sensu Vertebrata) in testis, prostate gland, bone marrow
THRB267ubiquitousmarkerBrodmann (1909) area 23, middle temporal gyrus, tibia
TIA1297ubiquitousmarkerright uterine tube, right ovary, ganglionic eminence
CLEC3B141broadmarkersubcutaneous adipose tissue, apex of heart, right atrium auricular region
TNKS295ubiquitousyesmiddle temporal gyrus, medial globus pallidus, Brodmann (1909) area 23
TOP1P2
UBE2E1300ubiquitousmarkercartilage tissue, oral cavity, ventricular zone
UBE2E2255ubiquitousmarkersural nerve, oviduct epithelium, prefrontal cortex
VAX2150ubiquitousmarkerprimordial germ cell in gonad, cerebellar hemisphere, cerebellar cortex
BCL11A247ubiquitousmarkercortical plate, ganglionic eminence, primary visual cortex
FOSL1191ubiquitousmarkercartilage tissue, stromal cell of endometrium, gall bladder
WNT10A151broadmarkerprimordial germ cell in gonad, lower esophagus mucosa, bone marrow cell
GUCD1255ubiquitousmarkerapex of heart, oocyte, ileal mucosa
SCYL1246ubiquitousmarkerapex of heart, hindlimb stylopod muscle, left adrenal gland cortex

Protein interactions among cohort

Intra-cohort edges: 25.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CFL15,350
SF3B23,906
SNRPG3,577
RNF83,568
TIA13,482
LARS23,406
BANF13,376
SART13,350
SART33,318
FOSL13,202

Intra-cohort edges

ABSources
ALG12PIM3string_interaction
BRD1ZBED4string_interaction
CD207TBC1D22Bbiogrid_interaction, intact
CDC42EP2FAM89Bstring_interaction
CDC42EP2TIGD3string_interaction
CDC42EP2ZNRD2string_interaction
CFL1CORO1Cstring_interaction
CLEC3BPI16string_interaction
ERI1MFHAS1string_interaction
FAM89BPCNX3string_interaction
FAM89BTIGD3string_interaction
FAM89BZNRD2string_interaction
MFHAS1PPP1R3Bstring_interaction
PAPOLGZNRD2intact
PCNX3SIPA1string_interaction
PWP1RPL15intact
RNF8UBE2E2string_interaction
SART1SART3string_interaction
SART1SNRPGintact
SART3SNRPGintact
SCYL1SNRPGstring_interaction
SELLSELPLGintact, string_interaction
SF3B2SNRPGintact
SNRPD3SNRPGintact
TIGD3ZNRD2string_interaction

Structural data

PDB: 38 · AlphaFold-only: 34 · No structure: 3

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
BRD1O95696318
RPL15P61313192
SNRPGP6230884
SNRPD3P6231879
SF3B2Q1343550
TNKSO9527142
THRBP1082834
TUBGCP6Q96RT730
BANF1O7553129
SART1O4329026
CD207Q9UJ7122
CFL1P2352819
BCL11AQ9H16517
FICDQ9BVA615
TGFAP0113511
TGFB2P6181211
TIA1P3148310
UBE2E2Q96LR510
KCNIP1Q9NZI210
SART3Q150209
UBE2E1P519656
CMTR1Q8N1G26
RNF8O760645
CMKLR1Q997885
ERI1Q8IV485
CLEC3BP054524
KIF15Q9NS874
SELLP141513
MDGA1Q8NFP43
PPP1R3BQ86XI62

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ALG12Q9BV1093.26
TGM4P4922192.09
PCYOX1Q9UHG391.61
SACM1LQ9NTJ590.83
LARS2Q1503190.57
HDAC10Q969S890.57
CCDC167Q9P0B687.71
GUCD1Q96NT386.92
PIM3Q86V8685.64
CPNE5Q9HCH385.40
ZDHHC3Q9NYG285.25
MFHAS1Q9Y4C484.62
PIWIL3Q7Z3Z383.91
WNT10AQ9GZT582.36
SEMA4BQ9NPR282.14
PWP1Q1361081.45
TIGD3Q6B0B879.94
LGR6Q9HBX877.94
SCYL1Q96KG976.40
MTCH1Q9NZJ776.29
ABTB3A6QL6373.18
TMEM217Q8N7C472.26
C6orf89Q6UWU472.24
SIPA1Q96FS472.20
MLC1Q1504971.29
VAX2Q9UIW070.91
FAM89BQ8N5H370.13
ZBED4O7513267.86
FOSL1P1540767.32
PPP6R2O7517066.00

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 555. Enrichment computed across 187 evidence-associated genes (90 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 90 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Hemostasis104.0×0.105SELL, SELPLG, TGFB2, CLEC3B, KIF15, CTSW, ITGA1, ITGA2 (+2 more)
LTC4-CYSLTR mediated IL4 production242.3×0.119GGT1, GGT5
CHL1 interactions228.2×0.119ITGA1, ITGA2
SLBP independent Processing of Histone Pre-mRNAs225.4×0.119SNRPD3, SNRPG
Activation of PPARGC1A (PGC-1alpha) by phosphorylation225.4×0.119MAPK11, MAPK12
ZBP1(DAI) mediated induction of type I IFNs223.1×0.119NKIRAS1, RELA
Processing of Capped Intronless Pre-mRNA223.1×0.119SNRPD3, SNRPG
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs223.1×0.119SNRPD3, SNRPG
Paracetamol ADME314.1×0.119GGT1, GGT5, GSTT1
Laminin interactions312.7×0.119ITGA1, ITGA2, LAMC2
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways311.9×0.119MAPK11, MAPK12, RELA
Molecules associated with elastic fibres310.3×0.119TGFB2, EFEMP2, LTBP2
Homology Directed Repair310.3×0.119RNF8, MUS81, KAT5
HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)310.3×0.119RNF8, MUS81, KAT5
Signaling by Receptor Tyrosine Kinases74.0×0.119TGFA, TIA1, ADORA2A, ITGA2, LAMC2, MAPK11, MAPK12
mRNA Polyadenylation54.9×0.125SF3B2, SNRPD3, SNRPG, PAPOLG, PCBP1
Glutathione synthesis and recycling221.1×0.126GGT1, GGT5
Cellular Senescence46.1×0.127CABIN1, KAT5, MAPK11, RELA
Activation of TRKA receptors1126.9×0.128ADORA2A
Defective ALG12 causes CDG-1g1126.9×0.128ALG12
Defective GGT1 causes GLUTH1126.9×0.128GGT1
Defective GGT1 in aflatoxin detoxification causes GLUTH1126.9×0.128GGT1
Maturation of replicase proteins1126.9×0.128ISCU
p38MAPK events219.5×0.128MAPK11, MAPK12
Signalling to RAS214.9×0.128MAPK11, MAPK12
RIP-mediated NFkB activation via ZBP1214.9×0.128NKIRAS1, RELA
Platelet Adhesion to exposed collagen214.9×0.128ITGA1, ITGA2
Metabolism of non-coding RNA214.1×0.128SNRPD3, SNRPG
KSRP (KHSRP) binds and destabilizes mRNA214.1×0.128EXOSC7, MAPK11
Aflatoxin activation and detoxification214.1×0.128GGT1, GGT5

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 136 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
protein adenylylation2123.9×0.041FICD, SELENOO
spliceosomal snRNP assembly417.1×0.041SART1, SNRPD3, SNRPG, SART3
regulation of protein phosphorylation324.8×0.048CORO1C, NDUFS4, PLXNB2
hair follicle morphogenesis414.6×0.048TGFB2, WNT10A, FST, GLI2
skin development413.0×0.048WNT10A, ASCL4, ASPRV1, OVOL1
cellular response to interleukin-6321.9×0.054SELPLG, CFL1, RELA
leukocyte tethering or rolling318.6×0.076SELL, SELPLG, ADD2
negative regulation of actin filament depolymerization241.3×0.095CFL1, SPECC1L
ISG15-protein conjugation241.3×0.095UBE2E1, UBE2E2
embryo development ending in birth or egg hatching316.2×0.095TGFB2, FGF2, FOXI1
exonucleolytic trimming to generate mature 3’-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)235.4×0.102ERI1, EXOSC7
U2-type prespliceosome assembly313.8×0.102SF3B2, SNRPD3, SNRPG
positive regulation of miRNA transcription48.6×0.102TGFB2, FOSL1, FGF2, RELA
7-methylguanosine cap hypermethylation231.0×0.117SNRPD3, SNRPG
leukotriene D4 biosynthetic process231.0×0.117GGT1, GGT5
maturation of 5S rRNA1123.9×0.131SART1
growth factor dependent regulation of skeletal muscle satellite cell proliferation1123.9×0.131FGF2
obsolete beta-alanine biosynthetic process via 3-ureidopropionate1123.9×0.131UPB1
neural crest cell delamination1123.9×0.131SPECC1L
positive regulation of cell fate specification1123.9×0.131FGF2
protein deadenylylation1123.9×0.131FICD
meiotic cell cycle phase transition1123.9×0.131OVOL1
lipoprotein localization to membrane1123.9×0.131ZDHHC3
positive regulation of circadian sleep/wake cycle, sleep1123.9×0.131ADORA2A
pyrimidine nucleoside catabolic process1123.9×0.131UPB1
negative regulation of unidimensional cell growth1123.9×0.131CFL1
regulation of timing of catagen1123.9×0.131TGFB2
positive regulation of activation-induced cell death of T cells1123.9×0.131TGFB2
nonfunctional rRNA decay1123.9×0.131PELO
cellular response to ether1123.9×0.131CFL1

Therapeutics

Drugs indicated for this disease

31 approved, 13 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
AdapaleneApproved (phase 4)
Azelaic AcidApproved (phase 4)
Benzoyl PeroxideApproved (phase 4)
BithionolApproved (phase 4)
ChloramphenicolApproved (phase 4)
ClascoteroneApproved (phase 4)
ClindamycinApproved (phase 4)
Clindamycin PhosphateApproved (phase 4)
DapsoneApproved (phase 4)
DexamethasoneApproved (phase 4)
DrospirenoneApproved (phase 4)
ErythromycinApproved (phase 4)
Ethinyl EstradiolApproved (phase 4)
FluorometholoneApproved (phase 4)
Folic AcidApproved (phase 4)
HydroxocobalaminApproved (phase 4)
IsotretinoinApproved (phase 4)
MethylprednisoloneApproved (phase 4)
MinocyclineApproved (phase 4)
NiacinApproved (phase 4)
NiacinamideApproved (phase 4)
Norethindrone AcetateApproved (phase 4)
NorgestimateApproved (phase 4)
OfloxacinApproved (phase 4)
RetinolApproved (phase 4)
Salicylic AcidApproved (phase 4)
SulfacetamideApproved (phase 4)
SulfurApproved (phase 4)
TazaroteneApproved (phase 4)
TretinoinApproved (phase 4)
TrifaroteneApproved (phase 4)
AzithromycinPhase 3 (in late-stage trials)
Berdazimer SodiumPhase 3 (in late-stage trials)
Cyproterone AcetatePhase 3 (in late-stage trials)
KetoconazolePhase 3 (in late-stage trials)
LymecyclinePhase 3 (in late-stage trials)
MontelukastPhase 3 (in late-stage trials)
NadifloxacinPhase 3 (in late-stage trials)
OMEGA-3-ACID ETHYL ESTERSPhase 3 (in late-stage trials)
Olumacostat GlasaretilPhase 3 (in late-stage trials)
OxytetracyclinePhase 3 (in late-stage trials)
SarecyclinePhase 3 (in late-stage trials)
SpironolactonePhase 3 (in late-stage trials)
Trichloroacetic AcidPhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Afamelanotide, Alcohol, Apremilast, Bermekimab, Calcipotriene, Finasteride, Gevokizumab, Hydrogen Peroxide, Imsidolimab, Ingenol Disoxate, Ivermectin, Levamisole, Metformin, Methyl Aminolevulinate, Omiganan, Onabotulinumtoxina, Povidone-Iodine, Sodium Chloride, Zileuton.

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 10 · Undrugged: 65

Druggability breadth: 62 of 187 evidence-associated genes (33%) 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
RPL15GENTAMICIN SULFATE
THRBAMINOCAPROIC ACID
TNKSNIRAPARIB
HDAC10CELECOXIB
PIM3RUCAPARIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
THRB1174
HDAC10304
PIM3244
TNKS94
RPL1514
SELL12
SELPLG12
SF3B212
TGFB212
CMKLR111

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
GENTAMICIN SULFATE4RPL15
AMINOCAPROIC ACID4THRB
INDIGOTINDISULFONATE4THRB
CHLORMADINONE ACETATE4THRB
AMOXAPINE4THRB
IDARUBICIN4THRB
DYCLONINE HYDROCHLORIDE4THRB
ISOSORBIDE4THRB
CLOMIPRAMINE HYDROCHLORIDE4THRB
CHLORMEZANONE4THRB
PHENOXYBENZAMINE HYDROCHLORIDE4THRB
METHYSERGIDE MALEATE4THRB
LIOTHYRONINE SODIUM4THRB
DYCLONINE4THRB
ROSE BENGAL FREE ACID4THRB
INAMRINONE4THRB
MOLSIDOMINE4THRB
METRONIDAZOLE4THRB
AMILORIDE HYDROCHLORIDE4THRB
ALTRETAMINE4THRB
BISOPROLOL FUMARATE4THRB
ATORVASTATIN4THRB
OXYTETRACYCLINE4THRB
LIOTHYRONINE4THRB
MECLOFENAMATE SODIUM4THRB
DAUNORUBICIN HYDROCHLORIDE4THRB
AMANTADINE HYDROCHLORIDE4THRB
ACETOHEXAMIDE4THRB
DEBRISOQUIN SULFATE4THRB
PHENYTOIN SODIUM4THRB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 13.

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

SymbolAssaysType breakdown
HDAC101,643Binding:1630, ADMET:8, Functional:4, Toxicity:1
PIM3450Binding:419, Functional:30, Toxicity:1
TNKS226Binding:223, Functional:3
THRB169Binding:129, Functional:40
BRD1121Binding:118, Functional:3
RPL1590Binding:90
CMKLR158Binding:37, Functional:21
SF3B220Binding:20
KIF1520Binding:20
SELL16Binding:16
SELPLG13Binding:13
CFL111Binding:11
SNRPD37Binding:7
CD2076Binding:6
ZBED46Binding:6
CATSPER15Binding:5
TGFA3Binding:3
TGFB23Binding:3
UBE2E13Binding:3
BANF12Binding:2
ZNRD21Binding:1
TIA11Binding:1
SART31Binding:1
SACM1L1Binding:1
MLC11Binding:1
LARS21ADMET:1
ZDHHC31Binding:1
PPP6R21Binding:1
LGR61Binding:1
CORO1C1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
RNF82.3.2.27RING-type E3 ubiquitin transferase
TGM42.3.2.13protein-glutamine gamma-glutamyltransferase
TNKS2.4.2.30NAD+ ADP-ribosyltransferase
UBE2E12.3.2.23, 2.3.2.24, 2.3.2.25E2 ubiquitin-conjugating enzyme, (E3-independent) E2 ubiquitin-conjugating enzyme, N-terminal E2 ubiquitin-conjugating enzyme
UBE2E22.3.2.23, 2.3.2.24E2 ubiquitin-conjugating enzyme, (E3-independent) E2 ubiquitin-conjugating enzyme
PAPOLG2.7.7.19polynucleotide adenylyltransferase
UPB13.5.1.6beta-ureidopropionase
LARS26.1.1.4leucine-tRNA ligase
HDAC103.5.1.48, 3.5.1.98acetylspermidine deacetylase, histone deacetylase
ZDHHC32.3.1.225protein S-acyltransferase
ALG122.4.1.260dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase
PCYOX11.8.3.5prenylcysteine oxidase
CMTR12.1.1.57methyltransferase cap1

Cohort genes with high screening signal

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

SymbolChEMBL assays
BRD1121
THRB169
TNKS226
HDAC101,643
PIM3450

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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 SULFATE4RPL15
AMINOCAPROIC ACID4THRB
INDIGOTINDISULFONATE4THRB
CHLORMADINONE ACETATE4THRB
AMOXAPINE4THRB
IDARUBICIN4THRB
DYCLONINE HYDROCHLORIDE4THRB
ISOSORBIDE4THRB
CLOMIPRAMINE HYDROCHLORIDE4THRB
CHLORMEZANONE4THRB
PHENOXYBENZAMINE HYDROCHLORIDE4THRB
METHYSERGIDE MALEATE4THRB
LIOTHYRONINE SODIUM4THRB
DYCLONINE4THRB
ROSE BENGAL FREE ACID4THRB
INAMRINONE4THRB
MOLSIDOMINE4THRB
METRONIDAZOLE4THRB
AMILORIDE HYDROCHLORIDE4THRB
ALTRETAMINE4THRB
BISOPROLOL FUMARATE4THRB
ATORVASTATIN4THRB
OXYTETRACYCLINE4THRB
LIOTHYRONINE4THRB
MECLOFENAMATE SODIUM4THRB
DAUNORUBICIN HYDROCHLORIDE4THRB
AMANTADINE HYDROCHLORIDE4THRB
ACETOHEXAMIDE4THRB
DEBRISOQUIN SULFATE4THRB
PHENYTOIN SODIUM4THRB

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)5RPL15, THRB, TNKS, HDAC10, PIM3
BPhased (≥1) drug, not yet approved5SELL, SELPLG, SF3B2, TGFB2, CMKLR1
CDruggable family + PDB, no drug5UBE2E1, UBE2E2, PAPOLG, UPB1, MDGA1
DDruggable family + AlphaFold only, no drug8TGM4, SCYL1, LARS2, CATSPER1, ZDHHC3, ALG12, LGR6, PCYOX1
EDifficult family or no structure, no drug52RNF8, BCRP3, RNU6-1, SART1, SEMA4B, SIPA1, BRD1, SNRPD3, SNRPG, ZNRD2 (+42 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
BRD1121—
RNF80—
BCRP30—
RNU6-10—
SART10—
SEMA4B0—
SIPA10—
SNRPD37—
SNRPG0—
ZNRD21—
TGFA3—
TGM40—
TIA11—
CLEC3B0—
TOP1P20—
UBE2E13—
UBE2E20—
VAX20—
BCL11A0—
FOSL10—
WNT10A0—
GUCD10—
SCYL10—
PPP1R3B0—
PAPOLG0—
KCNIP10—
CDC42EP20—
UPB10—
FAM89B0—
SART31—

Clinical trials & evidence

Clinical trials

Clinical trials: 714.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified263
PHASE3121
PHASE4114
PHASE297
PHASE174
PHASE1/PHASE225
EARLY_PHASE113
PHASE2/PHASE37

Top trials by phase / activity

NCTPhaseStatusTitle
NCT03883269PHASE4RECRUITINGAnti-inflammatory Effects of Topical Erythromycin and Clindamycin in Acne Patients
NCT04582383PHASE4ACTIVE_NOT_RECRUITINGComparative Effectiveness Study of Spironolactone Versus Doxycycline for Acne
NCT06425900PHASE4ACTIVE_NOT_RECRUITINGA Study to Assess Sebaceous Gland Changes and Constituents of Sebum (Skin Oil) Induced by Clascoterone 1% Cream in Acne Patients
NCT07102186PHASE4RECRUITINGEfficacy and Safety of Adapalene Gel and Hyaluronic Acid Versus Adapalene Gel Alone in Mild to Moderate Acne Vulgaris
NCT07392047PHASE4NOT_YET_RECRUITINGMetronidazole 2% Gel Versus Clindamycin 1% Gel for Moderate Acne Vulgaris
NCT07524946PHASE4NOT_YET_RECRUITINGStudy to Assess Safety, Pharmacokinetics, and Treatment Effect of Cabtreo
NCT07544251PHASE4RECRUITINGComparing Sarecycline and Doxycycline Effects on the Skin and Gut Bacteria in Acne.
NCT00145106PHASE4COMPLETEDComparison of Tazarotene and Minocycline Therapies for Maintenance of Facial Acne Vulgaris
NCT00160394PHASE4COMPLETEDComparison of Duac® Gel And Differin® Gel in Mild to Moderate Acne Vulgaris
NCT00219570PHASE4COMPLETEDDalacin-T Gel Post Approval Study
NCT00240513PHASE4TERMINATEDStudy Comparing Acne in Patients Taking Oral Minocycline to Patients Taking Minocycline Plus Topical Tretinoin
NCT00243542PHASE4COMPLETEDPhase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency
NCT00377000PHASE4COMPLETEDA Pilot, Multi-Center, Patient Preference Study Comparing Two Clindamycin/Benzoyl Peroxide Gels.
NCT00437151PHASE4COMPLETEDAnalysis of Adherence & Associated Factors in Teenagers Undergoing Treatment of Acne Vulgaris With Differin® Gel 0.1%
NCT00469755PHASE4COMPLETEDDifferin® Gel x12 Wks vs Tazorac® Cream x12 Wks vs Differin® x6 Wks Switched to Tazorac® x6 Wks for Treatment of Acne
NCT00635609PHASE4COMPLETEDTreatment of Acne Vulgaris With Doryx Tablets Compared to Doxycyline Hyclate
NCT00658112PHASE4COMPLETEDMeasuring Adherence in Subjects With Acne Vulgaris in a Clinic Population Subtitle: Topical Benzoyl Peroxide for Acne
NCT00660985PHASE4COMPLETEDPharmacokinetic Study to Compare the Systemic Exposure of Differin® Gel, 0.3% or Differin® Gel, 0.1%
NCT00671749PHASE4COMPLETEDCombination Therapy With Differin® Gel 0.3% and Duac® (Clindamycin/Benzoyl Peroxide Gel) in Subjects With Acne Vulgaris
NCT00696449PHASE4COMPLETEDAnalysis of Adherence in Subjects Undergoing Differin Gel, 0.1% Treatment of Moderate to Severe Acne Vulgaris
NCT00714714PHASE4COMPLETEDEvaluation of Irritation That Could be Caused by Two Facial Gels Applied to Opposite Sides of the Face.
NCT00752635PHASE4COMPLETEDComparison of Efficacy and Safety of Norgestimate-ethinyl Estradiol and Cyproterone Acetate-ethinyl Estradiol in the Treatment of Acne Vulgaris
NCT00757523PHASE4COMPLETEDEvaluation of the Effectiveness, Safety, and Tolerability of Duac Akne Gel and Epiduo Gel in the Treatment of Facial Acne Vulgaris
NCT00807014PHASE4COMPLETEDEvaluation of Quality of Life, Efficacy, and Tolerance of Duac® Gel Compared to Differin® Gel in the Treatment of Acne
NCT00829049PHASE4TERMINATEDSafety and Efficacy of Tazarotene Cream 0.1% Compared With Adapalene Gel 0.3% in the Treatment of Moderate to Severe Facial Acne Vulgaris
NCT00834210PHASE4COMPLETEDDapsone Gel 5% and Tazarotene Cream 0.1% Versus Tazarotene Cream 0.1% Monotherapy for Facial Acne Vulgaris
NCT00835198PHASE4COMPLETEDDapsone Gel 5% and Tretinoin Gel 0.025% Versus Tretinoin Gel 0.025% Monotherapy for Facial Acne Vulgaris
NCT00837213PHASE4COMPLETEDComparative Efficacy and Safety of Benzoyl Peroxide Used in Combination With Clindamycin vs. Benzoyl Peroxide Used in Combination With Clindamycin and Doxycycline in the Treatment of Moderate Acne
NCT00841776PHASE4COMPLETEDComparative Antimicrobial Efficacy of Two Topical Acne Therapies for the Treatment of Facial Acne
NCT00887484PHASE4COMPLETEDA Comparative Study of the Tolerability of Two Combination Therapies for the Treatment of Acne
NCT00907257PHASE4COMPLETEDA Study of Different Use Regimens Using Two Acne Treatments
NCT00913185PHASE4COMPLETEDComparison Study of Topical Acne Regimens
NCT00919191PHASE4COMPLETEDEvaluation of Irritation by Two Facial Gels Applied to Opposite Sides of the Face
NCT00926367PHASE4COMPLETEDTwo-week Study to Compare the Tolerance and Irritation Potential of Two Combination Topical Gel Acne Medications
NCT00939133PHASE4COMPLETEDProof of Concept Study to Investigate the Recurrence of Acne Post Isotretinoin
NCT00952523PHASE4COMPLETEDEvaluation of Irritation That Potentially Could be Caused by Two Facial Gels Applied to Opposite Sides of the Face
NCT00964223PHASE4COMPLETEDA Study to Evaluate Tolerability of Two Topical Drug Products in the Treatment of Facial Acne
NCT00964366PHASE4COMPLETEDStudy to Determine and Compare the Tolerance and Irritation Potential of Topical Acne Medications
NCT01015638PHASE4COMPLETEDCompare the Tolerance of Clindamycin 1% /Benzoyl Peroxide (BPO) 5% Gel to Clindamycin 1.2%/ BPO 2.5% Topical Medications
NCT01016977PHASE4COMPLETEDA Phase 4, Single-Blind, Randomized, Study to Compare the Tolerability and Efficacy of 0.1% Tazorac Cream When Used in Combination With Either Duac Gel or Acanya Gel for the Treatment of Facial Acne Vulgaris

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
CLINDAMYCIN4116
ADAPALENE446
DOXYCYCLINE ANHYDROUS435
BENZOYL PEROXIDE426
TAZAROTENE416
ISOTRETINOIN415
BERDAZIMER SODIUM411
DAPSONE410
MINOCYCLINE48
TRETINOIN48
TRIFAROTENE48
SALICYLIC ACID46
SARECYCLINE46
TIMOLOL45
AZELAIC ACID43
CLASCOTERONE43
AMINOLEVULINIC ACID42
CLINDAMYCIN PHOSPHATE42
ETHINYL ESTRADIOL42
RETINOL42
SPIRONOLACTONE42
AFAMELANOTIDE41
APREMILAST41
ARTENIMOL41
CALCIPOTRIENE41
DROSPIRENONE41
ERYTHROMYCIN41
HYDROGEN PEROXIDE41
IVERMECTIN41
LEVAMISOLE41

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