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ENPEP

gene
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Also known as gp160CD249

Summary

ENPEP (glutamyl aminopeptidase, HGNC:3355) is a protein-coding gene on chromosome 4q25, encoding Glutamyl aminopeptidase (Q07075). Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II.

The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19.

Source: NCBI Gene 2028 — RefSeq curated summary.

At a glance

  • GWAS associations: 25
  • Clinical variants (ClinVar): 156 total — 1 pathogenic
  • Phenotypes (HPO): 1
  • Druggable target: yes
  • MANE Select transcript: NM_001977

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:3355
Approved symbolENPEP
Nameglutamyl aminopeptidase
Location4q25
Locus typegene with protein product
StatusApproved
Aliasesgp160, CD249
Ensembl geneENSG00000138792
Ensembl biotypeprotein_coding
OMIM138297
Entrez2028

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000265162, ENST00000502711, ENST00000504100, ENST00000509344, ENST00000510961, ENST00000876171, ENST00000876172, ENST00000967707

RefSeq mRNA: 4 — MANE Select: NM_001977 NM_001379611, NM_001379612, NM_001379613, NM_001977

CCDS: CCDS3691

Canonical transcript exons

ENST00000265162 — 20 exons

ExonStartEnd
ENSE00000841721110476155110477058
ENSE00000970165110506637110506757
ENSE00000970166110509653110509807
ENSE00000970167110510245110510358
ENSE00000970168110513415110513549
ENSE00000970169110515377110515442
ENSE00000970170110520008110520073
ENSE00000970171110520215110520366
ENSE00000970172110531198110531277
ENSE00000970173110542751110542887
ENSE00000970174110543015110543070
ENSE00000970175110548176110548326
ENSE00000970176110549346110549419
ENSE00000970177110549528110549632
ENSE00001081347110553315110553455
ENSE00001081348110561406110565285
ENSE00003475708110488541110488682
ENSE00003561187110491033110491164
ENSE00003589540110559647110559725
ENSE00003593270110549716110549886

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 99.59.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5877 / max 771.9597, expressed in 187 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter IDTPM avgSamples expressed
492611.117094
492620.207879
492630.052630
492650.047027
492590.045819
492600.043220
492640.039016
2033120.022311
492580.00683
492570.00612

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
jejunal mucosaUBERON:000039999.59gold quality
renal glomerulusUBERON:000007499.32gold quality
metanephric glomerulusUBERON:000473699.31gold quality
kidney epitheliumUBERON:000481997.86gold quality
ileal mucosaUBERON:000033197.30gold quality
ileumUBERON:000211697.21silver quality
nephron tubuleUBERON:000123196.94gold quality
adult mammalian kidneyUBERON:000008294.73gold quality
kidneyUBERON:000211394.00gold quality
metanephrosUBERON:000008193.60gold quality
duodenumUBERON:000211492.99gold quality
cortex of kidneyUBERON:000122592.19gold quality
small intestine Peyer’s patchUBERON:000345491.85gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.54gold quality
small intestineUBERON:000210891.00gold quality
adult organismUBERON:000702390.92gold quality
omental fat padUBERON:001041489.10gold quality
peritoneumUBERON:000235888.97gold quality
liverUBERON:000210788.83gold quality
adipose tissue of abdominal regionUBERON:000780888.67gold quality
placentaUBERON:000198788.61gold quality
right lobe of liverUBERON:000111488.14gold quality
body of uterusUBERON:000985386.96gold quality
corpus epididymisUBERON:000435985.80gold quality
deciduaUBERON:000245085.36gold quality
jejunumUBERON:000211585.00gold quality
metanephros cortexUBERON:001053384.41gold quality
spleenUBERON:000210683.24gold quality
caput epididymisUBERON:000435883.14gold quality
adipose tissueUBERON:000101383.07gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-GEOD-125970yes480.51
E-CURD-119yes49.87
E-HCAD-10yes21.43
E-GEOD-134144yes8.04
E-MTAB-3929no119.81
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

Literature-anchored findings (GeneRIF, showing 19)

  • Rieger syndrome with microdeletions including only the PITX2 and ENPEP (glutamyl aminopeptidase) genes. (PMID:17850355)
  • Data show that APA appears to be an essential enzyme in the control of blood pressure via degradation of Angiotensin II. (PMID:17990103)
  • Data show that aminopeptidase A (APA) plays important roles in the regulation of blood pressure under both the physiological and pathological conditions. (PMID:17999179)
  • Data show that brain aminopeptidases act upon Ang I, Ang II and Ang III in order to activate brain AT(1) receptors. (PMID:18188697)
  • rare and common variation in ENPEP may contribute to the development of renal and hypertensive disorders and warrants further study (PMID:18206321)
  • The presence of APA in several human brain nuclei sensitive to angiotensins and involved in blood pressure regulation suggests that APA in humans is an integral component of the brain renin angiotensin system. (PMID:18410507)
  • A novel nonsense polymorphism in the aminopeptidase-a gene was associated with hypertension among postmenopausal women, and those with marginal calcium and vitamin D intake. (PMID:18550936)
  • Angiotensin III and aminopeptidase A and N, related converting enzymes, contribute to cell proliferation of prostate cancer and may be implicated in cancer progression. (PMID:18677709)
  • Over-expressed APA drastically reduces, in a calcium dependent manner, full-length-Abeta but not amyloid-beta precursor protein (APP) intracellular domain in a cell-free model of Abeta production. (PMID:19187443)
  • The activity of glutamyl aminopeptidase was significally increased in head and neck squamous cell carcinoma tissue. (PMID:19373777)
  • There was no significant alteration in plasma APA activity in the patients with Chagas disease or dilated cardiomyopathies, as compared with that in health controls (PMID:21697726)
  • These results explain the calcium-modulated substrate specificity of APA in central hypertension regulation (PMID:23888046)
  • miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-alpha, CCNJ, and MEGF9. (PMID:24098452)
  • This study suggests a role for GAP in the neoplastic development of renal tumours and provides additional data for considering the activity and expression of this enzyme of interest in the diagnosis and prognosis of renal neoplasms. (PMID:24885240)
  • The substrate Angiotensin II, the enzymes aminopeptidases-A, B, M as well as IRAP were detected in the jejunal mucosa. (PMID:26311161)
  • We suggest that APA enzymatic activity affects tumor initiation and cancer malignancy in a TWIST-dependent manner (PMID:28177885)
  • Aminopeptidase A (ENPEP) gene polymorphisms and preeclampsia: Descriptive analysis. (PMID:33421813)
  • Aminopeptidase A contributes to biochemical, anatomical and cognitive defects in Alzheimer’s disease (AD) mouse model and is increased at early stage in sporadic AD brain. (PMID:33881611)
  • Uncovering the role of TET2-mediated ENPEP activation in trophoblast cell fate determination. (PMID:38886218)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_rerioenpepENSDARG00000057064
mus_musculusEnpepENSMUSG00000028024
rattus_norvegicusEnpepENSRNOG00000051854
drosophila_melanogasterCG8773FBGN0038135
drosophila_melanogasterCG8774FBGN0038136
drosophila_melanogasterCG32473FBGN0052473

Paralogs (11): TRHDE (ENSG00000072657), LTA4H (ENSG00000111144), LNPEP (ENSG00000113441), NPEPPS (ENSG00000141279), RNPEPL1 (ENSG00000142327), AOPEP (ENSG00000148120), ERAP1 (ENSG00000164307), ERAP2 (ENSG00000164308), ANPEP (ENSG00000166825), LVRN (ENSG00000172901), RNPEP (ENSG00000176393)

Protein

Protein identifiers

Glutamyl aminopeptidase — Q07075 (reviewed: Q07075)

Alternative names: Aminopeptidase A, Differentiation antigen gp160

All UniProt accessions (1): Q07075

UniProt curated annotations — full annotation on UniProt →

Function. Regulates central hypertension through its calcium-modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II.

Subunit / interactions. Homodimer; disulfide-linked.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in choriocarcinoma cancer cell lines (at protein level). Expressed by epithelial cells of the proximal tubule cells and the glomerulus of the nephron. Also found in a variety of other tissues.

Activity regulation. Substrate specificity is modulated by calcium which enhances the enzymatic activity for cleavage of acidic residues while reducing its activity with basic residues. Inhibited by aminopeptidase inhibitors amastatin and bestatin.

Cofactor. Binds 1 zinc ion per subunit.

Similarity. Belongs to the peptidase M1 family.

RefSeq proteins (4): NP_001366540, NP_001366541, NP_001366542, NP_001968* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001930Peptidase_M1Family
IPR014782Peptidase_M1_domDomain
IPR024571ERAP1-like_C_domDomain
IPR027268Peptidase_M4/M1_CTD_sfHomologous_superfamily
IPR034016M1_APN-typFamily
IPR042097Aminopeptidase_N-like_N_sfHomologous_superfamily
IPR045357Aminopeptidase_N-like_NDomain
IPR050344Peptidase_M1_aminopeptidasesFamily

Pfam: PF01433, PF11838, PF17900

Enzyme classification (BRENDA):

  • EC 3.4.11.7 — glutamyl aminopeptidase (BRENDA: 42 organisms, 157 substrates, 206 inhibitors, 93 Km, 77 kcat entries)

Substrate kinetics (BRENDA)

26 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
GLU-7-AMIDO-4-METHYLCOUMARIN0.1351–4.3612
ALPHA-L-GLU-BETA-NAPHTHYLAMIDE0.1–5.9410
L-GLU-2-NAPHTHYLAMIDE0.159–2.0348
ANGIOTENSIN II0.062–2.857
ALPHA-L-GLUTAMYL-BETA-NAPHTHYLAMIDE0.0391–12.56
CHOLECYSTOKININ-81.21–3.254
KALLIDIN0.36–1.134
NEUROKININ B1.84–4.944
ALPHA-L-ASP-2-NAPHTHYLAMIDE0.515–2.3073
ALPHA-L-GLU-2-NAPHTHYLAMIDE0.243–2.6873
ASP-4-METHYLCOUMARYL-7-AMIDE1.4–2.32
ASP-7-AMIDO-4-METHYLCOUMARIN0.3273–0.38482
ASP-ALA0.21–0.2122
GLN-4-METHYLCOUMARYL-7-AMIDE0.6–7.12
GLU-4-METHYLCOUMARYL-7-AMIDE0.4–1.22

UniProt features (116 total): helix 43, strand 29, glycosylation site 14, turn 9, binding site 6, sequence variant 5, topological domain 2, site 2, mutagenesis site 2, chain 1, transmembrane region 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

7 structures.

PDBMethodResolution (Å)
4KX7X-RAY DIFFRACTION2.15
4KXDX-RAY DIFFRACTION2.15
4KX9X-RAY DIFFRACTION2.25
4KX8X-RAY DIFFRACTION2.4
4KXAX-RAY DIFFRACTION2.4
4KXBX-RAY DIFFRACTION2.4
4KXCX-RAY DIFFRACTION2.4

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q07075-F194.200.91

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 221 (binds calcium which modulates its enzyme activity); 479 (transition state stabilizer); 394 (proton acceptor)

Ligand- & substrate-binding residues (6): 416; 887; 223; 357–361; 393; 397

Glycosylation sites (14): 98, 124, 197, 324, 340, 554, 589, 597, 607, 678, 763, 773, 801, 828

Mutagenesis-validated functional residues (2):

PositionPhenotype
356reduced enzyme activity.
887reduced enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-2022377Metabolism of Angiotensinogen to Angiotensins
R-HSA-2980736Peptide hormone metabolism
R-HSA-392499Metabolism of proteins

MSigDB gene sets: 205 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, MODULE_172, chr4q25, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, MODULE_92, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_CIRCULATORY_RENIN_ANGIOTENSIN, GOBP_REGULATION_OF_BLOOD_PRESSURE, HARRIS_HYPOXIA, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOMF_METALLOPEPTIDASE_ACTIVITY, GOCC_VACUOLAR_MEMBRANE, MODULE_64, GOBP_REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE, GOBP_REGULATION_OF_HORMONE_LEVELS, GOCC_CELL_SURFACE

GO Biological Process (9): angiogenesis (GO:0001525), angiotensin maturation (GO:0002003), regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081), cell-cell signaling (GO:0007267), cell population proliferation (GO:0008283), cell migration (GO:0016477), glomerulus development (GO:0032835), peptide catabolic process (GO:0043171), proteolysis (GO:0006508)

GO Molecular Function (8): aminopeptidase activity (GO:0004177), glutamyl aminopeptidase activity (GO:0004230), zinc ion binding (GO:0008270), metalloaminopeptidase activity (GO:0070006), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (10): obsolete extracellular space (GO:0005615), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), brush border (GO:0005903), external side of plasma membrane (GO:0009897), apical plasma membrane (GO:0016324), cytoplasmic vesicle (GO:0031410), apical part of cell (GO:0045177), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Peptide hormone metabolism1
Metabolism of proteins1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
aminopeptidase activity2
apical part of cell2
cellular anatomical structure2
blood vessel morphogenesis1
anatomical structure formation involved in morphogenesis1
regulation of angiotensin levels in blood1
peptide hormone processing1
regulation of systemic arterial blood pressure by hormone1
cell communication1
signaling1
cellular process1
cell motility1
anatomical structure development1
nephron development1
peptide metabolic process1
catabolic process1
protein metabolic process1
exopeptidase activity1
transition metal ion binding1
metalloexopeptidase activity1
hydrolase activity1
catalytic activity, acting on a protein1
peptidase activity1
catalytic activity1
cation binding1
lysosome1
lytic vacuole membrane1
membrane1
cell periphery1
microvillus1
cluster of actin-based cell projections1
plasma membrane1
cell surface1
side of membrane1
plasma membrane region1
cytoplasm1
intracellular vesicle1
extracellular vesicle1

Protein interactions and networks

STRING

1764 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ENPEPCD4P01730994
ENPEPCCR5P51681929
ENPEPCXCR4P30991901
ENPEPITIH4Q14624884
ENPEPCD209Q9NNX6841
ENPEPC4AP01028792
ENPEPC4AP01028788
ENPEPCALML3P27482782
ENPEPCALML6Q8TD86782
ENPEPCALML4Q96GE6782
ENPEPCALML5Q9NZT1782
ENPEPDPP4P27487762
ENPEPACE2Q9BYF1731
ENPEPDNPEPQ9ULA0711
ENPEPAGTP01019704

IntAct

16 interactions, top by confidence:

ABTypeScore
ENPEPBNIP3psi-mi:“MI:0914”(association)0.530
ANKHFAM234Bpsi-mi:“MI:0914”(association)0.530
MARCHF6ENPEPpsi-mi:“MI:0915”(physical association)0.400
ZCCHC14ENPEPpsi-mi:“MI:0915”(physical association)0.400
RNF43CSNK1Epsi-mi:“MI:0914”(association)0.350
SLC10A4ILVBLpsi-mi:“MI:0914”(association)0.350
SLC22A2RAB27Bpsi-mi:“MI:0914”(association)0.350
SLC22A9ESYT2psi-mi:“MI:0914”(association)0.350
SLC2A10NRP1psi-mi:“MI:0914”(association)0.350
SLC39A7ESYT2psi-mi:“MI:0914”(association)0.350
SLC44A1UPK3BL1psi-mi:“MI:0914”(association)0.350
purLENPEPpsi-mi:“MI:0915”(physical association)0.000
ENPEPpsi-mi:“MI:0915”(physical association)0.000
ENPEPpsi-mi:“MI:0915”(physical association)0.000

BioGRID (21): FRMD5 (Affinity Capture-MS), BNIP3 (Affinity Capture-MS), ENPEP (Affinity Capture-MS), ENPEP (Affinity Capture-MS), ENPEP (Affinity Capture-MS), FRMD5 (Affinity Capture-MS), BNIP3 (Affinity Capture-MS), ITGA6 (Co-fractionation), PLXNA2 (Co-fractionation), ITGA4 (Co-fractionation), ITGAV (Co-fractionation), L1CAM (Co-fractionation), PRMT5 (Co-fractionation), ENPEP (Affinity Capture-MS), ENPEP (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4K692, A5HUI5, B2RQR8, D3UW23, F1N476, O16796, O44857, O95672, P07861, P08049, P08473, P0C1T0, P0DPD6, P0DPD9, P15144, P15145, P15684, P16406, P42891, P42892, P42893, P50123, P97739, Q07075, Q10715, Q10751, Q18673, Q22523, Q32LQ0, Q495T6, Q4PZA2, Q56H28, Q56NL1, Q58DD0, Q5EGZ1, Q5RE69, Q5RFN1, Q61391, Q6Q4G4, Q8IS64

Diamond homologs: A0A6J2ATK2, A6NEC2, A6QPT7, M3XFH7, O57579, P15144, P15145, P15541, P15684, P46557, P50123, P79098, P79143, P79171, P97449, P97629, Q07075, Q10736, Q10836, Q2KHK3, Q32LQ0, Q5RFP3, Q6P179, Q6Q4G3, Q7Q2T8, Q8C129, Q8K093, Q95334, Q9EQH2, Q9JJ22, Q9UIQ6, Q9UKU6, A5HUI5, D3UW23, O93654, O93655, P0DQU2, P16406, P32454, P37893

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

156 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance128
Likely benign2
Benign5

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
375444GRCh37/hg19 4q25(chr4:111528916-111888401)x1Pathogenic

SpliceAI

3497 predictions. Top by Δscore:

VariantEffectΔscore
4:110477054:GTCAA:Gdonor_gain1.0000
4:110477059:G:GGdonor_gain1.0000
4:110488538:AAG:Aacceptor_gain1.0000
4:110488539:A:Gacceptor_gain1.0000
4:110488680:GCG:Gdonor_gain1.0000
4:110488681:CGGTA:Cdonor_loss1.0000
4:110488682:GGT:Gdonor_loss1.0000
4:110488683:G:Adonor_loss1.0000
4:110488684:TAAG:Tdonor_loss1.0000
4:110491028:A:AGacceptor_gain1.0000
4:110491029:A:Gacceptor_gain1.0000
4:110491030:T:Gacceptor_gain1.0000
4:110491031:A:AGacceptor_gain1.0000
4:110491032:G:GTacceptor_gain1.0000
4:110491032:GA:Gacceptor_gain1.0000
4:110491032:GAA:Gacceptor_gain1.0000
4:110491032:GAAA:Gacceptor_gain1.0000
4:110491160:AACCT:Adonor_gain1.0000
4:110491161:ACCT:Adonor_gain1.0000
4:110491162:CCT:Cdonor_gain1.0000
4:110491162:CCTGT:Cdonor_loss1.0000
4:110491163:CT:Cdonor_gain1.0000
4:110491163:CTGTG:Cdonor_loss1.0000
4:110491164:TG:Tdonor_loss1.0000
4:110491165:G:GGdonor_gain1.0000
4:110491166:T:Gdonor_loss1.0000
4:110491167:G:GTdonor_loss1.0000
4:110491168:AGTCT:Adonor_loss1.0000
4:110500155:G:GTdonor_gain1.0000
4:110500191:GACT:Gdonor_gain1.0000

AlphaMissense

6309 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:110509692:A:TE360V1.000
4:110488595:T:GC233W0.999
4:110509693:G:CE360D0.999
4:110509693:G:TE360D0.999
4:110509697:T:AW362R0.999
4:110509697:T:CW362R0.999
4:110509790:C:GH393D0.999
4:110509802:C:GH397D0.999
4:110510245:T:AW399R0.999
4:110510245:T:CW399R0.999
4:110510252:G:AG401E0.999
4:110510252:G:TG401V0.999
4:110510275:T:AW409R0.999
4:110510275:T:CW409R0.999
4:110510277:G:CW409C0.999
4:110510277:G:TW409C0.999
4:110510287:T:AW413R0.999
4:110510287:T:CW413R0.999
4:110510297:A:TE416V0.999
4:110510298:A:CE416D0.999
4:110510298:A:TE416D0.999
4:110513526:T:CF474L0.999
4:110513528:T:AF474L0.999
4:110513528:T:GF474L0.999
4:110513549:G:CK481N0.999
4:110513549:G:TK481N0.999
4:110488579:G:CR228T0.998
4:110488579:G:TR228M0.998
4:110488670:T:AN258K0.998
4:110488670:T:GN258K0.998

dbSNP variants (sampled 300 via entrez): RS1000018112 (4:110490534 T>C), RS1000029465 (4:110564878 G>C), RS1000097566 (4:110541955 GTC>G), RS1000132674 (4:110492319 C>T), RS1000179090 (4:110516444 C>T), RS1000188329 (4:110562073 A>T), RS1000333520 (4:110511324 C>T), RS1000402741 (4:110543763 G>A,T), RS10004516 (4:110477052 A>C,G,T), RS1000478361 (4:110509417 T>C), RS1000506415 (4:110523116 G>A,C), RS1000532316 (4:110485891 C>T), RS1000533037 (4:110541655 C>G), RS1000547865 (4:110565112 T>C), RS1000561085 (4:110528615 C>T)

Disease associations

OMIM: gene MIM:138297 | disease phenotypes: MIM:209850, MIM:180500

GenCC curated gene-disease

Mondo (2): autism (MONDO:0005260), Axenfeld-Rieger syndrome type 1 (MONDO:0008386)

Orphanet (1): Axenfeld-Rieger syndrome (Orphanet:782)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0000717Autism

GWAS associations

25 associations (top):

StudyTraitp-value
GCST000051_1Atrial fibrillation/atrial flutter7.000000e-11
GCST000051_2Atrial fibrillation/atrial flutter3.000000e-41
GCST001072_5Blood pressure7.000000e-08
GCST001074_6Blood pressure9.000000e-09
GCST001217_25Metabolic traits7.000000e-13
GCST003075_117Cognitive decline rate in late mild cognitive impairment4.000000e-06
GCST003075_44Cognitive decline rate in late mild cognitive impairment9.000000e-07
GCST004279_41Systolic blood pressure2.000000e-11
GCST004748_40Lung cancer2.000000e-06
GCST005024_91Pursuit maintenance gain3.000000e-06
GCST005093_3Iris color (a* coordinate)4.000000e-06
GCST005095_2Iris heterochromicity8.000000e-06
GCST005096_1Iris color (b* coordinate)2.000000e-06
GCST007267_272Systolic blood pressure6.000000e-18
GCST007703_82Systolic blood pressure3.000000e-06
GCST007706_131Mean arterial pressure2.000000e-06
GCST007707_69Hypertension5.000000e-06
GCST007928_26Medication use (diuretics)9.000000e-09
GCST007929_29Medication use (calcium channel blockers)6.000000e-12
GCST007929_43Medication use (calcium channel blockers)5.000000e-10
GCST007930_127Medication use (agents acting on the renin-angiotensin system)2.000000e-12
GCST007930_172Medication use (agents acting on the renin-angiotensin system)4.000000e-09
GCST012020_289Serum metabolite levels5.000000e-13
GCST012020_290Serum metabolite levels8.000000e-11
GCST90011900_89Serum alkaline phosphatase levels3.000000e-11

EFO canonical traits (11, from GWAS)

EFO IDTrait name
EFO:0006335systolic blood pressure
EFO:0006336diastolic blood pressure
EFO:0004725metabolite measurement
EFO:0007710cognitive decline measurement
EFO:0008433pursuit maintenance gain measurement
EFO:0003949eye color
EFO:0006340mean arterial pressure
EFO:0009928Diuretic use measurement
EFO:0009930Calcium channel blocker use measurement
EFO:0009931Agents acting on the renin-angiotensin system use measurement
EFO:0004533alkaline phosphatase measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D001321Autistic DisorderF03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3439 (SINGLE PROTEIN), CHEMBL3831223 (PROTEIN FAMILY)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M1: Aminopeptidase N

Most potent curated ligand interactions (1 total), top 1:

LigandActionAffinityParameter
compound 40 [PMID: 10602705]Inhibition9.06pKi

ChEMBL bioactivities

61 potent at pChembl≥5 of 63 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
9.06Ki0.873nMCHEMBL146746
8.49Ki3.2nMCHEMBL358903
8.45Ki3.56nMCHEMBL348205
8.44Ki3.6nMCHEMBL148777
8.42Ki3.83nMCHEMBL151631
8.37Ki4.3nMCHEMBL147285
8.27Ki5.36nMCHEMBL359101
8.03Ki9.3nMCHEMBL347763
7.92Ki12nMCHEMBL356858
7.89Ki13nMCHEMBL4217064
7.89Ki13nMCHEMBL346397
7.83Ki14.7nMCHEMBL433935
7.82Ki15nMCHEMBL148482
7.80Ki16nMCHEMBL146922
7.70Ki20nMCHEMBL345941
7.57Ki27nMCHEMBL151900
7.40Ki40nMCHEMBL149449
7.30Ki50nMCHEMBL148781
7.29Ki51nMCHEMBL1161295
7.28Ki53nMCHEMBL149436
7.17Ki67nMCHEMBL88808
7.13Ki73.3nMCHEMBL357586
7.10Ki80nMCHEMBL1161305
7.08Ki83.3nMCHEMBL436269
6.96Ki110nMCHEMBL357167
6.89Ki130nMCHEMBL4204736
6.89Ki130nMCHEMBL101147
6.85Ki140nMCHEMBL28124
6.84Ki145nMCHEMBL348192
6.82Ki150nMCHEMBL1161304
6.62Ki240nMCHEMBL151630
6.57Ki267nMCHEMBL344321
6.55Ki283nMCHEMBL149339
6.55Ki280nMCHEMBL102084
6.54Ki292nMCHEMBL149145
6.54Ki290nMCHEMBL100575
6.43Ki370nMCHEMBL330184
6.41Ki390nMCHEMBL441816
6.33Ki470nMCHEMBL147410
6.29Ki510nMCHEMBL103306
6.08Ki840nMCHEMBL283227
6.06Ki870nMCHEMBL27824
6.06Ki870nMCHEMBL103952
6.04Ki910nMCHEMBL149947
6.01Ki980nMCHEMBL102006
5.92Ki1200nMCHEMBL148746
5.80Ki1600nMCHEMBL100140
5.72Ki1900nMCHEMBL26376
5.70Ki2000nMCHEMBL26032
5.70Ki2000nMCHEMBL317189

PubChem BioAssay actives

61 with measured affinity, of 71 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
(2S)-1-[(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]pyrrolidine-2,3-dicarboxylic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0009uM
(2S)-2-[[(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0032uM
(2R)-2-[[(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]-3-sulfopropanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0036uM
(2S)-2-[[(2S,3R)-2-[[(2R,3R)-3-amino-5-carboxy-2-sulfanylpentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0036uM
(2R)-1-[(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]pyrrolidine-2,3-dicarboxylic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0038uM
(2S)-2-[[(2S)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0043uM
(2R)-2-[[(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0054uM
(2S)-2-[[(2S)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-4-sulfobutanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0093uM
(2S)-2-[[(2S,3R)-2-[[(2R,3R)-3-amino-5-phosphono-2-sulfanylpentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0120uM
(2S)-2-[[(2S,3S)-2-[(3-amino-5-carboxy-2-sulfanylpentanoyl)amino]-3-methylpentanoyl]amino]butanedioic acid1380374: Inhibition of APA (unknown origin) using GlubetaNA as substrate after 30 minski0.0130uM
(2S)-2-[[(2S,3R)-2-[[(2R,3S)-3-amino-5-carboxy-2-sulfanylpentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0130uM
(2S)-2-[[(2R,3S)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0147uM
(3S)-4-amino-3-[[(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]-4-oxobutanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0150uM
(2S)-2-[[(2S,3R)-2-[[(2S,3S)-3-amino-5-carboxy-2-sulfanylpentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0160uM
(2S)-2-[[(2S,3R)-2-[[(2R,3S)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0200uM
(2S)-2-[[(2S)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0270uM
(2S,3R)-2-[[(2R,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0400uM
(2S)-2-[[(2S,3R)-2-[[(2S,3S)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0500uM
(2S)-2-[[(2S,3R)-2-[(3-amino-5-sulfamoyl-2-sulfanylpentyl)amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0510uM
(2S)-2-[[(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0530uM
2-[[(1-amino-3-phenylpropyl)-hydroxyphosphoryl]methyl]-3-(4-hydroxyphenyl)propanoic acid1380384: Inhibition of APA (unknown origin)ki0.0670uM
(2S)-2-[[(2S)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-4-sulfobutanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0733uM
(2S)-2-[[(2S,3R)-2-[(3-amino-5-sulfamoyl-2-sulfanylpentanoyl)amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0800uM
(2R)-2-[[(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]-3-sulfopropanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.0833uM
(2S)-1-[(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]pyrrolidine-2,3-dicarboxylic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.1100uM
(5S)-5-amino-6-sulfanylhexanoic acid35700: Inhibition of aminopeptidase A (APA)ki0.1300uM
(2S)-2-[[(2S)-2-[[1-aminoethyl(hydroxy)phosphoryl]methyl]-3-phenylpropanoyl]amino]-2-methyl-3-phenylpropanoic acid1380393: Inhibition of APA (unknown origin) using GluNA as substrateki0.1300uM
(4S)-4-amino-5-sulfanylpentanoic acid35699: Inhibition of aminopeptidase A (APA)ki0.1400uM
(3R,4R)-3-amino-5-[[(2S,3R)-1-amino-3-methyl-1-oxopentan-2-yl]amino]-5-oxo-4-sulfanylpentane-1-sulfonic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.1450uM
(2S)-2-[[(2S)-2-[(3-amino-5-sulfamoyl-2-sulfanylpentanoyl)amino]-3-(4-hydroxyphenyl)propanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.1500uM
(2R)-1-[(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]pyrrolidine-2,3-dicarboxylic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.2400uM
(2S)-2-[[(2S,3R)-2-[[(2S,3R)-3-amino-5-carboxy-2-sulfanylpentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.2670uM
2-(3-amino-4-sulfanylbutyl)propanedioic acid35700: Inhibition of aminopeptidase A (APA)ki0.2800uM
(2R)-2-[[(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.2830uM
sodium (3S)-3-amino-4-sulfanylbutane-1-sulfonate35700: Inhibition of aminopeptidase A (APA)ki0.2900uM
(2S)-2-[[(2R,3S)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.2920uM
sodium (4S)-4-amino-5-sulfanylpentane-1-sulfonate35700: Inhibition of aminopeptidase A (APA)ki0.3700uM
(3-amino-4-sulfanylbutyl)phosphonic acid35700: Inhibition of aminopeptidase A (APA)ki0.3900uM
(3S)-4-amino-3-[[(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoyl]amino]-4-oxobutanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.4700uM
(4-amino-5-sulfanylpentyl)phosphonic acid35700: Inhibition of aminopeptidase A (APA)ki0.5100uM
3-(2-amino-3-sulfanylpropyl)benzoic acid35699: Inhibition of aminopeptidase A (APA)ki0.8400uM
(4S)-4-(methylamino)-5-sulfanylpentanoic acid35699: Inhibition of aminopeptidase A (APA)ki0.8700uM
(4S)-4-amino-2-methyl-5-sulfanylpentanoic acid35700: Inhibition of aminopeptidase A (APA)ki0.8700uM
(2S)-2-[[(2S,3R)-2-[[(2S,3R)-3-amino-5-phosphono-2-sulfanylpentanoyl]amino]-3-methylpentanoyl]amino]butanedioic acid35701: Binding affinity against recombinant Aminopeptidase Aki0.9100uM
(5R)-5-amino-6-sulfanylhexanoic acid35700: Inhibition of aminopeptidase A (APA)ki0.9800uM
(2S,3R)-2-[[(2S,3R)-3-amino-2-sulfanyl-5-sulfopentanoyl]amino]-3-methylpentanoic acid35701: Binding affinity against recombinant Aminopeptidase Aki1.2000uM
6-amino-7-sulfanylheptanoic acid35700: Inhibition of aminopeptidase A (APA)ki1.6000uM
4-(2-amino-3-sulfanylpropyl)cyclohexane-1-carboxylic acid35699: Inhibition of aminopeptidase A (APA)ki1.9000uM
(4S)-4-amino-6-sulfanylhexanoic acid35699: Inhibition of aminopeptidase A (APA)ki2.0000uM
(5S)-5-amino-N-hydroxy-6-sulfanylhexanamide35700: Inhibition of aminopeptidase A (APA)ki2.0000uM

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression4
trichostatin Aaffects cotreatment, increases expression3
Benzo(a)pyreneaffects methylation, decreases expression, decreases methylation3
Progesteroneincreases expression3
Acetaminophendecreases expression2
aristolochic acid Idecreases expression1
methylmercuric chloridedecreases expression1
bisphenol Aaffects cotreatment, increases methylation, decreases methylation1
sodium arsenitedecreases expression1
benzo(e)pyreneincreases methylation1
CGP 52608affects binding, increases reaction1
entinostatdecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
bisphenol Sdecreases methylation1
Fulvestrantaffects cotreatment, increases methylation1
Diethylhexyl Phthalatedecreases expression1
Estradioldecreases expression1
Methapyrileneincreases methylation1
Phenylmercuric Acetateaffects cotreatment, increases expression1
Silverincreases expression1
Tobacco Smoke Pollutionincreases expression1
Tretinoinincreases expression1
Triclosanincreases expression1
2-Naphthylamineincreases metabolic processing1
Cyclosporinedecreases expression1
Aflatoxin B1increases methylation1
Sodium Selenitedecreases expression1
Antirheumatic Agentsincreases expression1

ChEMBL screening assays

9 unique, capped per target: 8 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1041816BindingInhibition of APA at 10 uMDiscovery of 4-[(2S)-2-{[4-(4-chlorophenoxy)phenoxy]methyl}-1-pyrrolidinyl]butanoic acid (DG-051) as a novel leukotriene A4 hydrolase inhibitor of leukotriene B4 biosynthesis. — J Med Chem
CHEMBL4334276ADMETStability in pH 2 HCl assessed as aminopeptidase (unknown origin)-mediated compound hydrolysis by measuring parent compound remaining at 200 uM up to 6 hrs by RP-HPLC analysisAstratides: Insulin-Modulating, Insecticidal, and Antifungal Cysteine-Rich Peptides from Astragalus membranaceus. — J Nat Prod

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00211796PHASE4COMPLETEDDivalproex Sodium ER in Adult Autism
NCT00391261PHASE4COMPLETEDAn Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747PHASE4COMPLETEDMinocycline to Treat Childhood Regressive Autism
NCT00576732PHASE4COMPLETEDA Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753PHASE4COMPLETEDAtomoxetine, Placebo and Parent Management Training in Autism
NCT01028820PHASE4COMPLETEDFMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383PHASE4UNKNOWNTreatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865PHASE4COMPLETEDA Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700PHASE4COMPLETEDMilnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200PHASE4COMPLETEDOmega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977PHASE4UNKNOWNStudy to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952PHASE4COMPLETEDMethylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925PHASE4UNKNOWNAn Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467PHASE4COMPLETEDMultisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565PHASE4COMPLETEDDose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574PHASE4COMPLETEDNeural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629PHASE4COMPLETEDPromoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646PHASE4COMPLETEDEvaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431PHASE4COMPLETEDImproving Driving in Young People With Autism Spectrum Disorders
NCT03757585PHASE4COMPLETEDNatural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353PHASE4COMPLETEDPragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656PHASE4COMPLETEDBiomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245PHASE4UNKNOWNSafety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339PHASE4RECRUITINGAWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052PHASE4TERMINATEDA Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665PHASE4RECRUITINGThe TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697PHASE4COMPLETEDPilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804PHASE4COMPLETEDPilot RCT Using Homeopathic Medicines in ASD
NCT07439042PHASE4NOT_YET_RECRUITINGBuspirone for Anxiety in Autistic Youth
NCT00036231PHASE3TERMINATEDSynthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244PHASE3COMPLETEDSynthetic Human Secretin in Children With Autism
NCT00065884PHASE3UNKNOWNValproate Response in Aggressive Autistic Adolescents
NCT00065962PHASE3COMPLETEDSecretin for the Treatment of Autism
NCT00252603PHASE3COMPLETEDGalantamine Versus Placebo in Childhood Autism
NCT00346736PHASE3COMPLETEDUse of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248PHASE3COMPLETEDRandomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352PHASE3COMPLETEDUse of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329PHASE3COMPLETEDRandomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173PHASE3COMPLETEDEffectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346PHASE3COMPLETEDA Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Axenfeld-Rieger syndrome type 1

About this page

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

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This page pulls from 79 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgtopdb_interactiongwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot