◎ Sugi Atlas

Atlas / Disease / Anorexia nervosa

Anorexia nervosa

disease
On this page

Summary

Anorexia nervosa (MONDO:0005351) is a disease with 75 cohort genes (380 GWAS associations across 92 studies) and 387 clinical trials. The dominant Reactome pathway is Class C/3 (Metabotropic glutamate/pheromone receptors) (6 cohort genes). Top therapeutic interventions include bromocriptine, fluoxetine, and risedronic acid.

At a glance

  • Cohort genes: 75
  • GWAS associations: 380
  • Clinical trials: 387

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameanorexia nervosa
Mondo IDMONDO:0005351
MeSHD000856
Orphanet36297
DOIDDOID:8689
ICD-10-CMF50.0
ICD-11263852475
NCITC34387
SNOMED CT56882008
UMLSC0003125
MedGen316
Is cancer (heuristic)no

Data availability: 380 GWAS associations (92 studies) · 4 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › eating disorder › anorexia nervosa

Related subtypes (5): rumination disorder, pica disease, bulimia nervosa, binge eating disorder, avoidant/restrictive food intake disorder

Subtypes (1): prepubertal anorexia nervosa

Genetics & variants

GWAS landscape

380 GWAS associations across 92 studies. Top hits map to 31 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs27990792e-31ZSCAN26?
rs93798971e-28ABT1 - ZNF322?
rs132176191e-27ZSCAN31?
rs130933854e-25BSN - APEHA
rs112099503e-21LINC02796?
rs104658682e-20LINC01360 - LINC02238?
rs15927574e-20NIHCOLE - RNU6-334P?
rs42989678e-20CACNA1C, CACNA1C-IT3?
rs98349702e-17HSPD1P6 - LINC02033?
rs130967602e-17NICN1 - RNA5SP130T
rs118747162e-17CCDC68 - LINC01929?
rs78227992e-17TSNARE1?
rs13513942e-17HMGA2?
rs121295735e-17RN7SKP19 - LINC01360?
rs44811505e-17ITIH3?
rs6448837e-17OR5BA1P - OR5AZ1P?
rs126584512e-16NIHCOLE - RNU6-334P?
rs17022943e-16MIR137HG?
rs70851043e-16BORCS7-ASMT?
rs75311181e-15LINC02796?
rs41295852e-15TSNARE1?
rs8130432e-15TCF4 - LINC01415?
rs21591004e-15CACNA1C?0.03
rs98217977e-15NCKIPSDA1.17
rs618672938e-15SORCS3?
rs22961728e-15MACF1?
rs116887672e-14EIF2S2P7 - ACTG1P22?
rs108838323e-14NT5C2?
rs107504503e-14LINC02551?
rs713954555e-14ZSCAN2-AS1, ZSCAN2?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90016613Peyrot WJ2021170,75616,992Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS.
GCST90271342Gong W202354,854456,998Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST90271330Gong W202353,400488,726Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
GCST010542Jang SK202053,2931,475,951Genetic correlation, pleiotropy, and causal associations between substance use and psychiatric disorder.
GCST007777Schork AJ201946,00819,526A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.
GCST90016619Peyrot WJ202140,67516,992Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS.
GCST90624483Ding H202232,8580Shared genetics between classes of obesity and psychiatric disorders: A large-scale genome-wide cross-trait analysis.
GCST90624488Ding H202232,8580Shared genetics between classes of obesity and psychiatric disorders: A large-scale genome-wide cross-trait analysis.
GCST90624493Ding H202232,8580Shared genetics between classes of obesity and psychiatric disorders: A large-scale genome-wide cross-trait analysis.
GCST90624494Ding H202232,8580Shared genetics between classes of obesity and psychiatric disorders: A large-scale genome-wide cross-trait analysis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR2
Tier 3: regulatory3
Tier 4: intronic/intergenic44

MAF distribution

BucketVariants
common (>=0.05)50
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant39
intergenic_variant5
regulatory_region_variant3
5_prime_UTR_variant1
missense_variant1
3_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs2799079628267398A>C0.055_prime_UTR_variantZSCAN262e-31Tier 2: splice/UTR
rs9379897626601298T>C0.05intergenic_variantABT1 - ZNF3221e-28Tier 4: intronic/intergenic
rs13217619628338894T>C0.05intron_variantZSCAN311e-27Tier 4: intronic/intergenic
rs13093385349673046A>G,T0.05intergenic_variantBSN - APEH4e-25Tier 4: intronic/intergenic
rs11209950172363997A>C,G,T0.05intron_variantLINC027963e-21Tier 4: intronic/intergenic
rs10465868173414971A>C,G0.05intron_variantLINC01360 - LINC022382e-20Tier 4: intronic/intergenic
rs15927575104554297G>A,C0.05intron_variantNIHCOLE - RNU6-334P4e-20Tier 4: intronic/intergenic
rs4298967122299028A>C,G,T0.05intron_variantCACNA1C, CACNA1C-IT38e-20Tier 4: intronic/intergenic
rs9834970336814539T>C0.05regulatory_region_variantHSPD1P6 - LINC020332e-17Tier 3: regulatory
rs13096760349439373T>A,C,G0.05intergenic_variantNICN1 - RNA5SP1302e-17Tier 4: intronic/intergenic
rs118747161855083457T>A,C,G0.05intron_variantCCDC68 - LINC019292e-17Tier 4: intronic/intergenic
rs78227998142242486A>C,G,T0.05intron_variantTSNARE12e-17Tier 4: intronic/intergenic
rs13513941265958046T>A,C,G0.05intron_variantHMGA22e-17Tier 4: intronic/intergenic
rs12129573173302683C>A0.05intron_variantRN7SKP19 - LINC013605e-17Tier 4: intronic/intergenic
rs4481150352803777T>C,G0.05intron_variantITIH35e-17Tier 4: intronic/intergenic
rs6448831157896050C>G0.05intergenic_variantOR5BA1P - OR5AZ1P7e-17Tier 4: intronic/intergenic
rs126584515104568336T>C0.05intron_variantNIHCOLE - RNU6-334P2e-16Tier 4: intronic/intergenic
rs1702294198036428T>A,C,G0.05intron_variantMIR137HG3e-16Tier 4: intronic/intergenic
rs708510410102869116A>G0.05intron_variantBORCS7-ASMT3e-16Tier 4: intronic/intergenic
rs7531118172371556T>C0.05intron_variantLINC027961e-15Tier 4: intronic/intergenic
rs41295858142231572A>C,G,T0.05intron_variantTSNARE12e-15Tier 4: intronic/intergenic
rs8130431855737463A>C,G,T0.05intron_variantTCF4 - LINC014152e-15Tier 4: intronic/intergenic
rs2159100122237227C>A,G,T0.05intron_variantCACNA1C4e-15Tier 4: intronic/intergenic
rs9821797348680820T>A,C0.12intron_variantNCKIPSD7e-15Tier 4: intronic/intergenic
rs6186729310104804166C>T0.05intron_variantSORCS38e-15Tier 4: intronic/intergenic
rs2296172139370145A>G,T0.05missense_variantMACF18e-15Tier 1: coding
rs11688767257761059A>G,T0.05intron_variantEIF2S2P7 - ACTG1P222e-14Tier 4: intronic/intergenic
rs1088383210103111522T>A,G0.05intron_variantNT5C23e-14Tier 4: intronic/intergenic
rs1075045011130849166G>C,T0.05intron_variantLINC025513e-14Tier 4: intronic/intergenic
rs713954551584610573A>C,G,T0.05intron_variantZSCAN2-AS1, ZSCAN25e-14Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 53 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
CNNM2Orphanet:620363Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
RPS26Orphanet:124Diamond-Blackfan anemia
CNNM4Orphanet:1873Jalili syndrome
ATXN7Orphanet:94147Spinocerebellar ataxia type 7
TSHZ1Orphanet:141074External auditory canal aplasia/hypoplasia
BRAFOrphanet:1340Cardiofaciocutaneous syndrome
BRAFOrphanet:146Differentiated thyroid carcinoma
BRAFOrphanet:251615Pilomyxoid astrocytoma
BRAFOrphanet:389Langerhans cell histiocytosis
BRAFOrphanet:500Noonan syndrome with multiple lentigines
BRAFOrphanet:54595Craniopharyngioma
BRAFOrphanet:58017Classic hairy cell leukemia
BRAFOrphanet:626Large/giant congenital melanocytic nevus
BRAFOrphanet:648Noonan syndrome
BRAFOrphanet:840Syringocystadenoma papilliferum
BRAFOrphanet:96253Cushing disease
SOX5Orphanet:31388412p12.1 microdeletion syndrome
SOX5Orphanet:313892Developmental and speech delay due to SOX5 deficiency
SOX5Orphanet:626Large/giant congenital melanocytic nevus
SSBP1Orphanet:90635Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
SUOXOrphanet:99731Isolated sulfite oxidase deficiency
TCF20Orphanet:528084Non-specific syndromic intellectual disability
TCF4Orphanet:171Primary sclerosing cholangitis
TCF4Orphanet:178469Autosomal dominant non-syndromic intellectual disability
TCF4Orphanet:2896Pitt-Hopkins syndrome
TCF4Orphanet:98974Fuchs endothelial corneal dystrophy
TFAP2BOrphanet:46627Char syndrome
TFAP2BOrphanet:466729Familial patent arterial duct
WWOXOrphanet:25151046,XY partial gonadal dysgenesis
WWOXOrphanet:284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
WWOXOrphanet:708171Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy
WWOXOrphanet:99977Squamous cell carcinoma of the esophagus
BCL11BOrphanet:662829Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
SLC30A9Orphanet:505242Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
KDM3BOrphanet:633004KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
PCLOOrphanet:97249Pontocerebellar hypoplasia type 3
CACNA1COrphanet:101016Romano-Ward syndrome
CACNA1COrphanet:130Brugada syndrome
CACNA1COrphanet:528084Non-specific syndromic intellectual disability
CACNA1COrphanet:595098Timothy syndrome type 1
CACNA1COrphanet:595105Timothy syndrome type 2
CACNA1COrphanet:595109Atypical Timothy syndrome
CACNA1IOrphanet:178469Autosomal dominant non-syndromic intellectual disability
CACNB2Orphanet:130Brugada syndrome
NTNG2Orphanet:528084Non-specific syndromic intellectual disability
VPS45Orphanet:369852Congenital neutropenia-myelofibrosis-nephromegaly syndrome
TRIM8Orphanet:1934Early infantile developmental and epileptic encephalopathy
PHIPOrphanet:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
KIZOrphanet:791Retinitis pigmentosa
SYNE2Orphanet:98853Autosomal dominant Emery-Dreifuss muscular dystrophy

Cohort genes → proteins

75 cohort genes, 75 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only75

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
RGS6HGNC:10002ENSG00000182732P49758Regulator of G-protein signaling 6gwas
CNNM2HGNC:103ENSG00000148842Q9H8M5Metal transporter CNNM2gwas
RPL41HGNC:10354ENSG00000229117P62945Small ribosomal subunit protein eS32gwas
RPS26HGNC:10414ENSG00000197728P62854Small ribosomal subunit protein eS26gwas
RTN1HGNC:10467ENSG00000139970Q16799Reticulon-1gwas
CNNM4HGNC:105ENSG00000158158Q6P4Q7Metal transporter CNNM4gwas
ATXN7HGNC:10560ENSG00000163635O15265Ataxin-7gwas
TSHZ1HGNC:10669ENSG00000179981Q6ZSZ6Teashirt homolog 1gwas
SHMT2HGNC:10852ENSG00000182199P34897Serine hydroxymethyltransferase, mitochondrialgwas
PMELHGNC:10880ENSG00000185664P40967Melanocyte protein PMELgwas
BRAFHGNC:1097ENSG00000157764P15056Serine/threonine-protein kinase B-rafgwas
SOX5HGNC:11201ENSG00000134532P35711Transcription factor SOX-5gwas
SRPK2HGNC:11306ENSG00000135250P78362SRSF protein kinase 2gwas
SSBP1HGNC:11317ENSG00000106028Q04837Single-stranded DNA-binding protein, mitochondrialgwas
SUOXHGNC:11460ENSG00000139531P51687Sulfite oxidase, mitochondrialgwas
TCF20HGNC:11631ENSG00000100207Q9UGU0Transcription factor 20gwas
TCF4HGNC:11634ENSG00000196628P15884Transcription factor 4gwas
ELP4HGNC:1171ENSG00000109911Q96EB1Elongator complex protein 4gwas
TFAP2BHGNC:11743ENSG00000008196Q92481Transcription factor AP-2-betagwas
WWOXHGNC:12799ENSG00000186153Q9NZC7WW domain-containing oxidoreductasegwas
IKZF4HGNC:13179ENSG00000123411Q9H2S9Zinc finger protein Eosgwas
BCL11BHGNC:13222ENSG00000127152Q9C0K0B-cell lymphoma/leukemia 11Bgwas
SLC30A9HGNC:1329ENSG00000014824Q6PML9Proton-coupled zinc antiporter SLC30A9, mitochondrialgwas
FAM53CHGNC:1336ENSG00000120709Q9NYF3Protein FAM53Cgwas
KDM3BHGNC:1337ENSG00000120733Q7LBC6Lysine-specific demethylase 3Bgwas
PCLOHGNC:13406ENSG00000186472Q9Y6V0Protein piccologwas
FOLH1BHGNC:13636ENSG00000134612Q9HBA9Putative N-acetylated-alpha-linked acidic dipeptidasegwas
ZKSCAN3HGNC:13853ENSG00000189298Q9BRR0Zinc finger protein with KRAB and SCAN domains 3gwas
CACNA1CHGNC:1390ENSG00000151067Q13936Voltage-dependent L-type calcium channel subunit alpha-1Cgwas
CACNA1IHGNC:1396ENSG00000100346Q9P0X4Voltage-dependent T-type calcium channel subunit alpha-1Igwas
CACNB2HGNC:1402ENSG00000165995Q08289Voltage-dependent L-type calcium channel subunit beta-2gwas
CSMD1HGNC:14026ENSG00000183117Q96PZ7CUB and sushi domain-containing protein 1gwas
ZSCAN31HGNC:14097ENSG00000235109Q96LW9Zinc finger and SCAN domain-containing protein 31gwas
PMEPA1HGNC:14107ENSG00000124225Q969W9Protein TMEPAIgwas
NTNG2HGNC:14288ENSG00000196358Q96CW9Netrin-G2gwas
IFT81HGNC:14313ENSG00000122970Q8WYA0Intraflagellar transport protein 81 homologgwas
MRPL33HGNC:14487ENSG00000243147O75394Large ribosomal subunit protein bL33mgwas
VPS45HGNC:14579ENSG00000136631Q9NRW7Vacuolar protein sorting-associated protein 45gwas
IMMP2LHGNC:14598ENSG00000184903Q96T52Mitochondrial inner membrane protease subunit 2gwas
LETM2HGNC:14648ENSG00000165046Q2VYF4LETM1 domain-containing protein LETM2, mitochondrialgwas
ACTR5HGNC:14671ENSG00000101442Q9H9F9Actin-related protein 5gwas
TAS1R2HGNC:14905ENSG00000179002Q8TE23Taste receptor type 1 member 2gwas
TAS2R3HGNC:14910ENSG00000127362Q9NYW6Taste receptor type 2 member 3gwas
TAS2R4HGNC:14911ENSG00000127364Q9NYW5Taste receptor type 2 member 4gwas
TAS2R5HGNC:14912ENSG00000127366Q9NYW4Taste receptor type 2 member 5gwas
PPP1R13BHGNC:14950ENSG00000088808Q96KQ4Apoptosis-stimulating of p53 protein 1gwas
SNAP91HGNC:14986ENSG00000065609O60641Clathrin coat assembly protein AP180gwas
OR9A4HGNC:15095ENSG00000258083Q8NGU2Olfactory receptor 9A4gwas
NCKIPSDHGNC:15486ENSG00000213672Q9NZQ3NCK-interacting protein with SH3 domaingwas
TRIM8HGNC:15579ENSG00000171206Q9BZR9E3 ubiquitin-protein ligase TRIM8gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
RGS6Regulator of G-protein signaling 6Regulates G protein-coupled receptor signaling cascades.
CNNM2Metal transporter CNNM2Divalent metal cation transporter.
RPL41Small ribosomal subunit protein eS32Component of the small ribosomal subunit (Ref.8).
RPS26Small ribosomal subunit protein eS26Component of the small ribosomal subunit.
RTN1Reticulon-1Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity.
CNNM4Metal transporter CNNM4Probable metal transporter.
ATXN7Ataxin-7Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex.
TSHZ1Teashirt homolog 1Probable transcriptional regulator involved in developmental processes.
SHMT2Serine hydroxymethyltransferase, mitochondrialCatalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis.
PMELMelanocyte protein PMELForms physiological amyloids that play a central role in melanosome morphogenesis and pigmentation.
BRAFSerine/threonine-protein kinase B-rafProtein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus.
SOX5Transcription factor SOX-5Transcription factor involved in chondrocytes differentiation and cartilage formation.
SRPK2SRSF protein kinase 2Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains and is involved in the phosphorylation of SR splici…
SSBP1Single-stranded DNA-binding protein, mitochondrialBinds preferentially and cooperatively to pyrimidine rich single-stranded DNA (ss-DNA).
SUOXSulfite oxidase, mitochondrialCatalyzes the oxidation of sulfite to sulfate, the terminal reaction in the oxidative degradation of sulfur-containing amino acids.
TCF20Transcription factor 20Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression.
TCF4Transcription factor 4Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif.
ELP4Elongator complex protein 4Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine).
TFAP2BTranscription factor AP-2-betaSequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.
WWOXWW domain-containing oxidoreductasePutative oxidoreductase.
IKZF4Zinc finger protein EosDNA-binding protein that binds to the 5’GGGAATRCC-3’ Ikaros-binding sequence.
BCL11BB-cell lymphoma/leukemia 11BKey regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals.
SLC30A9Proton-coupled zinc antiporter SLC30A9, mitochondrialMitochondrial proton-coupled zinc ion antiporter mediating the export of zinc from the mitochondria and involved in zinc homeostasis, zinc mobilization as well as mitochondrial morphology and health.
KDM3BLysine-specific demethylase 3BHistone demethylase that specifically demethylates ‘Lys-9’ of histone H3, thereby playing a central role in histone code.
PCLOProtein piccoloScaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released.
FOLH1BPutative N-acetylated-alpha-linked acidic dipeptidaseHas both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity.
ZKSCAN3Zinc finger protein with KRAB and SCAN domains 3Transcriptional factor that binds to the consensus sequence 5’-[GT][AG][AGT]GGGG-3’ and acts as a repressor of autophagy.
CACNA1CVoltage-dependent L-type calcium channel subunit alpha-1CPore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents.
CACNA1IVoltage-dependent T-type calcium channel subunit alpha-1IVoltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene exp…
CACNB2Voltage-dependent L-type calcium channel subunit beta-2Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current.
CSMD1CUB and sushi domain-containing protein 1Potential suppressor of squamous cell carcinomas.
ZSCAN31Zinc finger and SCAN domain-containing protein 31May function as a transcription factor.
PMEPA1Protein TMEPAIFunctions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression.
NTNG2Netrin-G2Involved in controlling patterning and neuronal circuit formation at the laminar, cellular, subcellular and synaptic levels.
IFT81Intraflagellar transport protein 81 homologComponent of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium.
VPS45Vacuolar protein sorting-associated protein 45May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.
IMMP2LMitochondrial inner membrane protease subunit 2Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space.
ACTR5Actin-related protein 5Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
TAS1R2Taste receptor type 1 member 2Putative taste receptor.
TAS2R3Taste receptor type 2 member 3Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract.
TAS2R4Taste receptor type 2 member 4Gustducin-coupled receptor for denatonium and N(6)-propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract.
TAS2R5Taste receptor type 2 member 5Receptor that may play a role in the perception of bitterness and is gustducin-linked.
PPP1R13BApoptosis-stimulating of p53 protein 1Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53.
SNAP91Clathrin coat assembly protein AP180Adaptins are components of the adapter complexes which link clathrin to receptors in coated vesicles.
OR9A4Olfactory receptor 9A4Odorant receptor.
NCKIPSDNCK-interacting protein with SH3 domainHas an important role in stress fiber formation induced by active diaphanous protein homolog 1 (DRF1).
TRIM8E3 ubiquitin-protein ligase TRIM8E3 ubiquitin-protein ligase that participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response.
TFAP2DTranscription factor AP-2-deltaSequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.
SYTL5Synaptotagmin-like protein 5May act as Rab effector protein and play a role in vesicle trafficking.
PHIPPH-interacting proteinProbable regulator of the insulin and insulin-like growth factor signaling pathways.

Protein-family classification

Druggable: 21 · Difficult: 23 · Unknown: 31 · 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
Transcription factor151.6×0.337
Scaffold/PPI81.8×0.338
Complement13.6×0.476
Ion channel23.0×0.476
Antibody/Immunoglobulin41.6×0.476
Kinase41.5×0.476
Protease21.0×0.764
Enzyme (other)61.0×0.764
GPCR20.6×0.918
Other/Unknown310.7×0.996

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
RGS6Other/UnknownnoDEP_dom, G-protein_gamma-like_dom, RGS
CNNM2Other/UnknownnoCBS_dom, CNNM, RmlC-like_jellyroll
RPL41Other/UnknownnoRibosomal_eS32
RPS26Other/UnknownnoRibosomal_eS26, Ribosomal_eS26_sf, Ribosomal_eS26_CS
RTN1Other/UnknownnoReticulon, RTN1-4
CNNM4Enzyme (other)yes7.2.2.14cNMP-bd_dom, CBS_dom, CNNM
ATXN7Other/UnknownnoSCA7_dom, Ataxin-7-like_regulator
TSHZ1Transcription factornoHD, Znf_C2H2_type, Teashirt_fam
SHMT2Enzyme (other)yes2.1.2.1Ser_HO-MeTrfase, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase_small
PMELAntibody/ImmunoglobulinyesPKD_dom, Ig-like_fold, PKD/Chitinase_dom
BRAFKinaseyes2.7.10.2Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, PKC_DAG/PE
SOX5Transcription factornoHMG_box_dom, HMG_box_dom_sf, SOX/SOX-like_TF
SRPK2KinaseyesProt_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
SSBP1Other/UnknownnoPrimosome_PriB/ssb, ssDNA-bd, NA-bd_OB-fold
SUOXEnzyme (other)yes1.8.3.1OxRdtase_Mopterin-bd_dom, Cyt_B5-like_heme/steroid-bd, MoCF_OxRdtse_dimer
TCF20Transcription factornoZnf_PHD, Znf_RING/FYVE/PHD, EPHD
TCF4Transcription factorno7.6.2.3bHLH_dom, HLH_DNA-bd_sf, NeuroDiff_E-box_TFs
ELP4Other/UnknownnoElongator_complex_protein_4, P-loop_NTPase
TFAP2BTranscription factornoTF_AP2, TF_AP2_beta, TF_AP2_C
WWOXScaffold/PPInoWW_dom, SDR_fam, WW_dom_sf
IKZF4Transcription factornoZnf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
BCL11BTranscription factornoZnf_C2H2_type, Znf_C2H2_sf, Dev/Hematopoietic_TF
SLC30A9Other/UnknownnoCation_efflux, DNA-bd_dom_put_sf, Cation_efflux_TMD_sf
FAM53COther/UnknownnoFAM53
KDM3BEnzyme (other)yes1.14.11.65JmjC_dom, LSDs-like, KDM3A/B_DUF7030
PCLOTranscription factornoC2_dom, PDZ, Znf_piccolo
FOLH1BProteaseyesTFR-like_dimer_dom, Peptidase_M28, TFR-like_dimer_dom_sf
ZKSCAN3Transcription factornoKRAB, SCAN_dom, Znf_C2H2_type
CACNA1CIon channelyesVDCCAlpha1, VDCC_L_a1su, VDCC_L_a1csu
CACNA1IIon channelyesVDCCAlpha1, VDCC_T_a1, Ion_trans_dom
CACNB2Scaffold/PPInoVDCC_L_bsu, SH3_domain, VDCC_L_b2su
CSMD1ComplementyesSushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
ZSCAN31Transcription factornoSCAN_dom, Znf_C2H2_type, Znf_C2H2_sf
PMEPA1Other/UnknownnoTMEPAI/LRAD4
NTNG2Other/UnknownnoEGF, LE_dom, Laminin_N
IFT81Other/UnknownnoIFT81, IFT81_CH, IFT81_N_sf
MRPL33Other/UnknownnoRibosomal_bL33, Ribosomal_zn-bd, Ribosomal_bL33_sf
VPS45Other/UnknownnoSec1-like, Sec1-like_dom2, Sec1-like_sf
IMMP2LProteaseyesPept_S26A_signal_pept_1, Peptidase_S26, Pept_S26A_signal_pept_1_CS
LETM2Other/UnknownnoLETM1-like_RBD, LETM1/MDM38-like, LETM2_N
ACTR5Other/UnknownnoActin, Actin_CS, ATPase_NBD
TAS1R2GPCRyesGPCR_3_Ca_sens_rcpt-rel, GPCR_3, ANF_lig-bd_rcpt
TAS2R3Other/UnknownnoTAS2R
TAS2R4Other/UnknownnoTAS2R, TAS2R4
TAS2R5Other/UnknownnoTAS2R
PPP1R13BScaffold/PPInoSH3_domain, Ankyrin_rpt, ASPP1_RA
SNAP91Other/UnknownnoENTH_VHS, ANTH_dom, ENTH
OR9A4GPCRyesGPCR_Rhodpsn, Olfact_rcpt, GPCR_Rhodpsn_7TM
NCKIPSDScaffold/PPInoSH3_domain, SPIN90/Ldb17_LRD, SPIN90/Ldb17
TRIM8Transcription factornoZnf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)1
moderate (6-20)1
broad (>20)73
unknown0

Top tissues across cohort

TissueCohort genes
ventricular zone9
cortical plate8
middle temporal gyrus7
Brodmann (1909) area 237
calcaneal tendon7
ganglionic eminence6
sural nerve5
buccal mucosa cell5
right adrenal gland4
mucosa of transverse colon4
endothelial cell4
sperm4
primordial germ cell in gonad4
right testis4
male germ line stem cell (sensu Vertebrata) in testis4
oocyte3
secondary oocyte3
left ovary3
ileal mucosa3
jejunal mucosa3

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
RGS6185broadmarkercortical plate, sural nerve, middle temporal gyrus
CNNM2234ubiquitousmarkersecondary oocyte, oocyte, right adrenal gland
RPL41134ubiquitousmarkerovary, right ovary, left ovary
RPS26140ubiquitousmarkergranulocyte, left adrenal gland cortex, mucosa of transverse colon
RTN1270broadmarkerBrodmann (1909) area 23, endothelial cell, pons
CNNM4189ubiquitousmarkermucosa of transverse colon, rectum, ileal mucosa
ATXN7290ubiquitousmarkermucosa of paranasal sinus, jejunal mucosa, superficial temporal artery
TSHZ1255ubiquitousmarkerjejunal mucosa, cerebellar vermis, ileal mucosa
SHMT2288ubiquitousmarkertendon of biceps brachii, cartilage tissue, right lobe of liver
PMEL175broadmarkerpigmented layer of retina, upper leg skin, mammalian vulva
BRAF265ubiquitousmarkerbuccal mucosa cell, colonic epithelium, calcaneal tendon
SOX5221ubiquitousmarkercortical plate, calcaneal tendon, synovial joint
SRPK2293ubiquitousmarkersperm, male germ cell, pons
SSBP1153ubiquitousmarkercalcaneal tendon, endometrium, islet of Langerhans
SUOX267ubiquitousmarkerright lobe of liver, right adrenal gland, right adrenal gland cortex
TCF20134ubiquitousyescortical plate, ganglionic eminence, tonsil
TCF4292ubiquitousmarkerendothelial cell, skin of hip, pericardium
ELP4250ubiquitousmarkerventricular zone, calcaneal tendon, primordial germ cell in gonad
TFAP2B128broadmarkercorpus epididymis, cauda epididymis, oocyte
WWOX286ubiquitousmarkerparotid gland, cervix squamous epithelium, cranial nerve II
IKZF4242ubiquitousmarkerbuccal mucosa cell, left adrenal gland, adrenal cortex
BCL11B211broadmarkerthymus, upper leg skin, cortical plate
SLC30A9300ubiquitousmarkercortical plate, calcaneal tendon, germinal epithelium of ovary
FAM53C290ubiquitousmarkerleft testis, right testis, blood
KDM3B296ubiquitousmarkerventricular zone, ganglionic eminence, gluteal muscle
PCLO235broadmarkerBrodmann (1909) area 23, middle temporal gyrus, cerebellar vermis
FOLH1B52markerprimordial germ cell in gonad, liver, right lobe of liver
ZKSCAN3193ubiquitousyesprimordial germ cell in gonad, sperm, hair follicle
CACNA1C134broadmarkerapex of heart, right coronary artery, muscle layer of sigmoid colon
CACNA1I145yesBrodmann (1909) area 23, primary visual cortex, middle temporal gyrus

Protein interactions among cohort

Intra-cohort edges: 25.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CDK29,236
BRAF7,394
WWOX5,892
SHMT25,293
SSBP14,725
SRPK23,839
SUOX3,449
DHX383,449
TCF43,342
CACNA1C3,145

Intra-cohort edges

ABSources
AS3MTCNNM2string_interaction
AS3MTZSCAN31string_interaction
CACNA1CCACNA1Istring_interaction
CACNA1CCACNB2intact, string_interaction
CACNA1CCSMD1string_interaction
CACNA1CPHIPintact
CACNA1ICACNB2string_interaction
CNNM2RIMS1intact
CSMD1PCLOstring_interaction
FAM53CKDM3Bstring_interaction
IKZF4SUOXstring_interaction
IMMP2LSHMT2biogrid_interaction
MRPS33SSBP1string_interaction
NEGR1SORCS3string_interaction
NEGR1TFAP2Bstring_interaction
RIMS1RTN1intact
RIMS1SRPK2intact
RIMS1SYTL5string_interaction
RPL41SRPK2intact
SSBP1SSBP2string_interaction
TAS1R2TAS2R3string_interaction
TAS1R2TAS2R4string_interaction
TAS1R2TAS2R5string_interaction
TAS2R3TAS2R4string_interaction
TFAP2BTFAP2Dbiogrid_interaction

Structural data

PDB: 43 · AlphaFold-only: 32 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
CDK2P24941521
RPS26P62854190
RPL41P62945185
PHIPQ8WWQ0146
BRAFP15056131
MRPL33O7539486
MRPS33Q9Y29177
KDM3BQ7LBC636
CACNA1CQ1393633
SHMT2P3489727
TAS1R2Q8TE2325
PMELP4096720
CNNM2Q9H8M57
ACTR5Q9H9F96
NCKIPSDQ9NZQ36
ATXN7O152655
SSBP1Q048375
TCF4P158845
CACNA1IQ9P0X44
DHX38Q926204
SRPK2P783623
CACNB2Q082893
NTNG2Q96CW93
SSBP2P818773
OSBPL3Q9H4L53
OTUD7BQ6GQQ93
SYNE2Q8WXH03
PTBP2Q9UKA93
CNNM4Q6P4Q72
TAS2R4Q9NYW52

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
FOLH1BQ9HBA996.69
VPS45Q9NRW790.65
ASB3Q9Y57590.62
IMMP2LQ96T5287.66
TAS2R3Q9NYW687.19
OR9A4Q8NGU285.56
IFT81Q8WYA083.45
OLFM4Q6UX0683.34
VSIG2Q96IQ780.30
TAS2R5Q9NYW479.93
CDH10Q9Y6N878.29
PMFBP1Q8TBY877.80
CDH9Q9ULB477.60
SORCS3Q9UPU375.70
ELP4Q96EB174.49
TRIM8Q9BZR972.26
PPP1R16BQ96T4970.73
ZSCAN31Q96LW967.96
KAT14Q9H8E867.36
SYTL5Q8TDW565.97
LETM2Q2VYF462.77
TFAP2DQ7Z6R962.75
ZKSCAN3Q9BRR060.16
SOX5P3571158.95
PMEPA1Q969W957.03
SNAP91O6064155.46
KIZQ2M2Z554.82
TSHZ1Q6ZSZ654.57
FAM53CQ9NYF352.63
BCL11BQ9C0K051.76

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 642. Enrichment computed across 229 evidence-associated genes (136 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 136 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Class C/3 (Metabotropic glutamate/pheromone receptors)612.9×0.004TAS1R2, TAS2R3, TAS2R4, TAS2R5, GRM3, TAS2R38
Sensory perception of sweet, bitter, and umami (glutamate) taste510.2×0.038TAS1R2, TAS2R3, TAS2R4, TAS2R5, TAS2R38
Negative regulation of activity of TFAP2 (AP-2) family transcription factors325.2×0.040TFAP2B, WWOX, TFAP2D
Activation of the TFAP2 (AP-2) family of transcription factors321.0×0.054TFAP2B, WWOX, TFAP2D
Sensory perception of taste49.9×0.087TAS2R3, TAS2R4, TAS2R5, TAS2R38
MECP2 regulates transcription factors233.6×0.108RBFOX1, MEF2C
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors314.0×0.108TFAP2B, TFAP2D, KIT
NCAM signaling for neurite out-growth48.0×0.108CACNA1C, CACNA1I, CACNB2, FGFR1
Cellular response to starvation56.1×0.108RPL41, RPS26, SZT2, RPTOR, ATF4
Adherens junctions interactions47.3×0.137CDH10, CDH9, CTNND1, CADM1
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors224.0×0.165CHRNA3, CHRNB4
Sensory Perception64.2×0.165CACNB2, TAS2R3, TAS2R4, TAS2R5, LRP2, TAS2R38
Synthesis and processing of ENV and VPU184.0×0.212FURIN
MGMT-mediated DNA damage reversal184.0×0.212MGMT
Dasatinib-resistant KIT mutants184.0×0.212KIT
Imatinib-resistant KIT mutants184.0×0.212KIT
KIT mutants bind TKIs184.0×0.212KIT
Masitinib-resistant KIT mutants184.0×0.212KIT
Nilotinib-resistant KIT mutants184.0×0.212KIT
Regorafenib-resistant KIT mutants184.0×0.212KIT
Signaling by kinase domain mutants of KIT184.0×0.212KIT
Sunitinib-resistant KIT mutants184.0×0.212KIT
Signaling by juxtamembrane domain KIT mutants184.0×0.212KIT
Sorafenib-resistant KIT mutants184.0×0.212KIT
Drug resistance of KIT mutants184.0×0.212KIT
Signaling by extracellular domain mutants of KIT184.0×0.212KIT
Highly calcium permeable nicotinic acetylcholine receptors218.7×0.212CHRNA3, CHRNB4
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors215.3×0.212CHRNA3, CHRNB4
Presynaptic nicotinic acetylcholine receptors214.0×0.212CHRNA3, CHRNB4
TP53 Regulates Transcription of Death Receptors and Ligands214.0×0.212PPP1R13B, TMEM219

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 213 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
postsynaptic modulation of chemical synaptic transmission722.1×3e-05BRAF, SORCS3, DCC, DRD2, GRM3, NRGN, PPP3CA
synaptic membrane adhesion513.6×0.021NTNG2, CDH10, CDH9, LRFN5, PTPRF
positive regulation of calcineurin-NFAT signaling cascade415.1×0.035SPPL3, ERBB3, AKAP6, PPP3CA
regulation of neurotransmitter secretion414.4×0.035RIMS1, CHRNB4, MCTP1, MEF2C
excitatory postsynaptic potential510.4×0.035CHRNA3, DRD2, GRIN2A, MEF2C, PPP3CA
regulation of synaptic plasticity67.3×0.035SORCS3, CNTN4, GRIN2A, MEF2C, ATF4, PTN
positive regulation of neuron projection development85.2×0.035NCKIPSD, NEGR1, CAMK1D, ZNF804A, MARK2, FES, FGFR1, PTN
negative regulation of synaptic transmission, glutamatergic323.7×0.041DRD2, GRIK3, HCN1
habenula development252.7×0.057NR4A2, PAX6
positive regulation of saliva secretion252.7×0.057NEGR1, PPP3CA
membrane depolarization during atrial cardiac muscle cell action potential252.7×0.057CACNA1C, CACNB2
obsolete signal peptide processing319.8×0.057IMMP2L, SPPL3, FURIN
visual learning57.2×0.072BRAF, TAFA2, DRD2, GRIN2A, KIT
striatal medium spiny neuron differentiation239.6×0.072BCL11B, ZSWIM6
hematopoietic stem cell migration239.6×0.072BCL11B, KIT
synaptic transmission involved in micturition239.6×0.072CHRNA3, CHRNB4
cardiac muscle hypertrophy in response to stress314.8×0.072KDM4A, ATP2A2, PPP3CA
detection of chemical stimulus involved in sensory perception of bitter taste49.0×0.072TAS2R3, TAS2R4, TAS2R5, TAS2R38
negative regulation of neuron apoptotic process84.2×0.072BRAF, TFAP2B, TFAP2D, CLU, AMBRA1, ERBB3, MEF2C, NR4A2
nervous system development132.8×0.072TCF4, TFAP2B, RBFOX1, CAMK1D, CHRNA3, CNTN4, IGSF9B, MEF2C (+5 more)
glutamate receptor signaling pathway313.2×0.098GRIK3, GRIN2A, KCNB1
positive regulation of axon regeneration231.6×0.098BRAF, PTN
membrane depolarization during AV node cell action potential231.6×0.098CACNA1C, CACNB2
commitment of neuronal cell to specific neuron type in forebrain226.4×0.137BCL11B, PAX6
myeloid progenitor cell differentiation222.6×0.137BRAF, KIT
transition between fast and slow fiber222.6×0.137ATP2A2, PPP3CA
sleep222.6×0.137CACNA1I, GRIN2A
negative regulation of RNA splicing222.6×0.137RPS26, PTBP2
positive regulation of muscle contraction222.6×0.137CACNA1C, CACNB2
branching morphogenesis of a nerve222.6×0.137DRD2, RERE

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

18 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

DrugHighest phase
AripiprazolePhase 3
DenosumabPhase 3
DronabinolPhase 3
EstradiolPhase 3
Estrogens, ConjugatedPhase 3
Ethinyl EstradiolPhase 3
LevonorgestrelPhase 3
PrasteronePhase 3
DienogestPhase 2
MetreleptinPhase 2
MidomafetaminePhase 2
MirtazapinePhase 2
OlanzapinePhase 2
ProgesteronePhase 2
PsilocybinPhase 2
QuetiapinePhase 2
Sodium ChloridePhase 2
TestosteronePhase 2

Drug target analysis

Approved (phase 4): 12 · Phase ≥3: 12 · Phased (≥1): 15 · Undrugged: 60

Druggability breadth: 74 of 229 evidence-associated genes (32%) 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
RPL41GENTAMICIN SULFATE
RPS26GENTAMICIN SULFATE
SHMT2OXAPROZIN
BRAFVEMURAFENIB
SRPK2FEDRATINIB
CACNA1CREMIFENTANIL
CACNA1INIMODIPINE
CACNB2NIMODIPINE
TAS2R3ISOPROTERENOL
TAS2R4ISOPROTERENOL
TAS2R5ISOPROTERENOL
CDK2PALBOCICLIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
CACNA1C854
CDK2854
BRAF484
SRPK2114
SHMT274
CACNA1I74
CACNB224
RPL4114
RPS2614
TCF412

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
GENTAMICIN SULFATE4RPL41, RPS26
OXAPROZIN4SHMT2
DULOXETINE4CACNA1C, SHMT2
PYRVINIUM4SHMT2
FLUPIRTINE4SHMT2
METHOTREXATE4SHMT2
PRIMAQUINE4SHMT2
VEMURAFENIB4BRAF
PONATINIB4BRAF
FEDRATINIB4BRAF, SRPK2
SORAFENIB4BRAF, CDK2
DASATINIB ANHYDROUS4BRAF
RUXOLITINIB4BRAF
INFIGRATINIB PHOSPHATE4BRAF
INFIGRATINIB4BRAF
REGORAFENIB4BRAF
DABRAFENIB4BRAF, CDK2
COBIMETINIB4BRAF
NILOTINIB4BRAF, CACNA1C
ABEMACICLIB4BRAF, CDK2
ENCORAFENIB4BRAF
TOVORAFENIB4BRAF
PAZOPANIB4BRAF
DASATINIB4BRAF, CACNA1C
ERLOTINIB4BRAF, CDK2
GEFITINIB4BRAF
IMATINIB4BRAF
ALECTINIB4SRPK2
NINTEDANIB4CDK2, SRPK2
SUNITINIB4CACNA1C, SRPK2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 9.

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

SymbolAssaysType breakdown
CDK22,469Binding:2394, Functional:59, ADMET:14, Toxicity:2
BRAF1,442Binding:1400, Functional:37, ADMET:5
CACNA1C575Binding:319, Functional:211, Toxicity:26, ADMET:19
SRPK2221Binding:221
RPL4189Binding:89
RPS2689Binding:89
CACNA1I56Binding:44, Functional:9, ADMET:3
TCF431Binding:31
TAS1R230Functional:15, Binding:15
CACNB222Binding:20, ADMET:1, Toxicity:1
PHIP17Binding:17
KDM3B13Binding:13
TAS2R48Functional:7, Binding:1
TAS2R58Functional:8
ACTR57Binding:7
TAS2R37Functional:7
SHMT26Binding:6
OTUD7B6Binding:6
ATXN75Binding:5
SSBP11Binding:1
OSBPL31Binding:1
AS3MT1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
CNNM47.2.2.14P-type Mg2+ transporter
SHMT22.1.2.1glycine hydroxymethyltransferase
BRAF2.7.10.2, 2.7.11.1non-specific protein-tyrosine kinase, non-specific serine/threonine protein kinase
SUOX1.8.3.1sulfite oxidase
TCF47.6.2.3ABC-type glutathione-S-conjugate transporter
KDM3B1.14.11.65[histone H3]-dimethyl-L-lysine9 demethylase
KAT142.3.1.48histone acetyltransferase
AS3MT2.1.1.137arsenite methyltransferase
CDK22.7.11.22cyclin-dependent kinase

Cohort genes with high screening signal

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

SymbolChEMBL assays
BRAF1,442
SRPK2221
CACNA1C575
CDK22,469

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 SULFATE4RPL41, RPS26
OXAPROZIN4SHMT2
DULOXETINE4CACNA1C, SHMT2
PYRVINIUM4SHMT2
FLUPIRTINE4SHMT2
METHOTREXATE4SHMT2
PRIMAQUINE4SHMT2
VEMURAFENIB4BRAF
PONATINIB4BRAF
FEDRATINIB4BRAF, SRPK2
SORAFENIB4BRAF, CDK2
DASATINIB ANHYDROUS4BRAF
RUXOLITINIB4BRAF
INFIGRATINIB PHOSPHATE4BRAF
INFIGRATINIB4BRAF
REGORAFENIB4BRAF
DABRAFENIB4BRAF, CDK2
COBIMETINIB4BRAF
NILOTINIB4BRAF, CACNA1C
ABEMACICLIB4BRAF, CDK2
ENCORAFENIB4BRAF
TOVORAFENIB4BRAF
PAZOPANIB4BRAF
DASATINIB4BRAF, CACNA1C
ERLOTINIB4BRAF, CDK2
GEFITINIB4BRAF
IMATINIB4BRAF
ALECTINIB4SRPK2
NINTEDANIB4CDK2, SRPK2
SUNITINIB4CACNA1C, SRPK2

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)12RPL41, RPS26, SHMT2, BRAF, SRPK2, CACNA1C, CACNA1I, CACNB2, TAS2R3, TAS2R4 (+2 more)
BPhased (≥1) drug, not yet approved3TCF4, ACTR5, TAS1R2
CDruggable family + PDB, no drug8CNNM4, PMEL, SUOX, KDM3B, CSMD1, MOB4, NEGR1, AS3MT
DDruggable family + AlphaFold only, no drug6FOLH1B, IMMP2L, OR9A4, KAT14, SORCS3, VSIG2
EDifficult family or no structure, no drug46RGS6, CNNM2, RTN1, ATXN7, TSHZ1, SOX5, SSBP1, TCF20, ELP4, TFAP2B (+36 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
RGS60—
CNNM20—
RTN10—
CNNM40—
ATXN75—
TSHZ10—
PMEL0—
SOX50—
SSBP11—
SUOX0—
TCF200—
ELP40—
TFAP2B0—
WWOX0—
IKZF40—
BCL11B0—
SLC30A90—
FAM53C0—
KDM3B13—
PCLO0—
FOLH1B0—
ZKSCAN30—
CSMD10—
ZSCAN310—
PMEPA10—
NTNG20—
IFT810—
MRPL330—
VPS450—
IMMP2L0—

Clinical trials & evidence

Clinical trials

Clinical trials: 387.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified325
PHASE219
PHASE112
PHASE39
EARLY_PHASE19
PHASE2/PHASE36
PHASE44
PHASE1/PHASE23

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00140426PHASE4COMPLETEDA Double-blind, Placebo Controlled Trial of Risperidone for the Treatment of Anorexia Nervosa
NCT00288574PHASE4COMPLETEDFluoxetine to Prevent Relapse and Enhance Psychological Recovery in Women With Anorexia Nervosa
NCT00592930PHASE4COMPLETEDOlanzapine in the Treatment of Anorexia Nervosa
NCT04190290PHASE4COMPLETEDAnorexia Nervosa Inpatient Physiotherapy Adapted Program
NCT07576764PHASE3NOT_YET_RECRUITINGPediatric Prolonged-Release Melatonin for Sleep Disturbances in Children and Adolescents With Anorexia Nervosa (MELSom-ANOREXIA)
NCT00088153PHASE2/PHASE3COMPLETEDEffects of Anorexia Nervosa on Bone Mass in Adolescents
NCT00089843PHASE2/PHASE3COMPLETEDBone Loss in Women With Anorexia Nervosa
NCT00220662PHASE3UNKNOWNThe Efficacy of Readiness and Motivation Therapy in Individuals With Anorexia Nervosa and Bulimia Nervosa
NCT00310791PHASE2/PHASE3COMPLETEDAdrenal and Gonadal Hormone Replacement in Anorexia Nervosa
NCT00610753PHASE3COMPLETEDComparison of Two Types of Family Therapy in the Treatment of Adolescent Anorexia Nervosa
NCT00760695PHASE3COMPLETEDCannabinoid Receptor (CB1) Agonist Treatment in Severe Chronic Anorexia Nervosa
NCT01082848PHASE3UNKNOWNARIpiprazole in Anorexia NErvosa
NCT01301183PHASE3COMPLETEDEffects of Anorexia Nervosa on Peak Bone Mass
NCT01626833PHASE2/PHASE3COMPLETEDSevere Decrease of Growth Velocity in Children With Anorexia Nervosa.Therapeutic Trial of Growth Hormone
NCT01823822PHASE2/PHASE3COMPLETEDInfluence of Protein Supplements on Serum Insulin-like Growth Factor-I Levels in Women With Anorexia Nervosa
NCT02567279PHASE3TERMINATEDImpact of Denosumab in the Prevention of Bone Loss in Non-menopausal Women With Anorexia Nervosa
NCT03292146PHASE3COMPLETEDEffects of Denosumab on Bone Mineral Density in Women With Anorexia Nervosa: A Pilot Study
NCT04779216PHASE3COMPLETEDEffects of Romosozumab on Bone Density in Women With Anorexia Nervosa
NCT05073679PHASE2/PHASE3TERMINATEDOral Naltrexone In Pediatric Eating Disorders
NCT03875378PHASE2RECRUITINGTransdermal Estrogen in Women With Anorexia Nervosa
NCT06305182PHASE2RECRUITINGMetreleptin in Anorexia Nervosa
NCT06399263PHASE2RECRUITINGStudy of Psilocybin for Anorexia in Young Adults
NCT06518941PHASE2NOT_YET_RECRUITINGAn Open Trial of a Novel Pharmacotherapy for Habit Modification in Anorexia Nervosa
NCT06736769PHASE2ENROLLING_BY_INVITATIONKetamine Effects on Learning In Eating Disorders
NCT07169747PHASE2RECRUITINGSafety, Therapeutic Potential, and Mechanisms of Two Psilocybin Doses, Administered With Psychological Support in Young Adults With Anorexia Nervosa
NCT00260962PHASE2COMPLETEDOlanzapine in the Treatment of Patients With Anorexia Nervosa
NCT00283595PHASE2COMPLETEDEffect of Growth Hormone on Bone Metabolism in Anorexia Nervosa
NCT00343928PHASE2COMPLETEDAmino Acids, Serotonin, and Body Weight Regulation
NCT00516386PHASE1/PHASE2COMPLETEDSafety Profile of Insulin Like Growth Factor-1 (IGF-I) Administration in Adolescents
NCT00584688PHASE2TERMINATEDA Double Blind, Placebo Controlled Trial of Quetiapine in Anorexia Nervosa, a Dual Site Study
NCT00759772PHASE2COMPLETEDThe Role of Parathyroid Hormone (PTH) in Low Bone Mass in Anorexia Nervosa
NCT01121211PHASE2COMPLETEDHormonal Factors in the Treatment of Anorexia Nervosa
NCT01390493PHASE1/PHASE2COMPLETEDTherapeutic Effects of Neurofeedback in Anorexia Nervosa
NCT01642550PHASE2COMPLETEDPhase 2 Pilot Study to Evaluate the Safety and Efficacy of RM-131 Administered to Females With Anorexia Nervosa
NCT01761942PHASE2UNKNOWNFatty Acids Omega -3 Diet Supplementation Efficiency and Safety Evaluation in Anorexia Nervosa
NCT01933243PHASE2COMPLETEDTreatment of Anxiety and Anorexia Nervosa in Adolescents
NCT02475265PHASE2COMPLETEDTransdermal Estrogen in Older Premenopausal Women With Anorexia Nervosa
NCT03172533PHASE2TERMINATEDEstrogen Replacement in Anorexia Nervosa
NCT04505189PHASE1/PHASE2COMPLETEDPsilocybin as a Treatment for Anorexia Nervosa: A Pilot Study
NCT04661514PHASE2COMPLETEDEvaluation of Psilocybin in Anorexia Nervosa: Safety and Efficacy

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BROMOCRIPTINE43
FLUOXETINE43
RISEDRONIC ACID43
ISOPROTERENOL42
TESTOSTERONE42
AMISULPRIDE41
CYCLOSERINE41
DENOSUMAB41
DEXTROSE41
DRONABINOL41
FISH OIL41
METRELEPTIN41
OLANZAPINE41
PRASTERONE41
PROGESTERONE41
RISPERIDONE41
TERIPARATIDE41
PSILOCYBIN34
COCOA31
ESTROGEN31
GINGER31
MEBUFOTENIN24
DELORAZEPAM21
LEVCYCLOSERINE21
CHEMBL474647202
CHEMBL3139901
CHEMBL162514101
CHEMBL420647601
CHEMBL420692501
CHEMBL123313401

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
v1.1.4
BioBTree
v2.0.2

Sources 73

This page pulls from 73 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_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot