Renal tubular dysgenesis of genetic origin
diseaseOn this page
Also known as genetic renal tubular dysgenesisrenal tubular dysgenesisRTD
Summary
Renal tubular dysgenesis of genetic origin (MONDO:0009970) is a disease caused by variants in ACE, AGT, AGTR1, and 1 other genes, with 6 cohort genes. The dominant Reactome pathway is Metabolism of Angiotensinogen to Angiotensins (3 cohort genes).
At a glance
- Causal genes: ACE (GenCC Strong), AGT (GenCC Strong), AGTR1 (GenCC Strong), REN (GenCC Strong)
- Cohort genes: 6
- ClinVar variants: 544
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | renal tubular dysgenesis of genetic origin |
| Mondo ID | MONDO:0009970 |
| OMIM | 267430 |
| Orphanet | 97369 |
| ICD-11 | 616055520 |
| UMLS | C5681536 |
| MedGen | 1826125 |
| GARD | 0016854 |
| Is cancer (heuristic) | no |
Also known as: genetic renal tubular dysgenesis · renal tubular dysgenesis · renal tubular dysgenesis of genetic origin · RTD
Data availability: 544 ClinVar variants · 16 GenCC gene-disease records.
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › renal tubular dysgenesis › renal tubular dysgenesis of genetic origin
Related subtypes (2): renal tubular dysgenesis due to twin-twin transfusion, drug-related renal tubular dysgenesis
Subtypes (1): renal tubular dysgenesis - ACE
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
544 retrieved; paginated sample, class counts are floors:
395 uncertain significance, 48 conflicting classifications of pathogenicity, 34 likely pathogenic, 24 benign/likely benign, 18 likely benign, 12 pathogenic/likely pathogenic, 10 pathogenic, 2 benign, 1 uncertain significance/vus-low
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1215324 | NM_000789.4(ACE):c.2T>C (p.Met1Thr) | ACE | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 18063 | NM_000789.4(ACE):c.798C>G (p.Tyr266Ter) | ACE | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 235336 | NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) | ACE | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2506013 | NM_000789.4(ACE):c.3409C>T (p.Gln1137Ter) | ACE | Pathogenic | criteria provided, single submitter |
| 2573840 | NM_000789.4(ACE):c.793C>T (p.Arg265Ter) | ACE | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2712424 | NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs) | ACE | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3001305 | NM_000789.4(ACE):c.1186C>T (p.Gln396Ter) | ACE | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3341107 | NM_000789.4(ACE):c.21_30del (p.Arg8fs) | ACE | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4531674 | NM_000789.4(ACE):c.207G>A (p.Trp69Ter) | ACE | Pathogenic | criteria provided, single submitter |
| 50209 | NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) | ACE | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 827586 | NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs) | ACE | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 871758 | NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) | ACE | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 429714 | NM_001384479.1(AGT):c.1060C>T | AGT | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 429788 | NM_001384479.1(AGT):c.829+1G>T | AGT | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1685512 | NM_000685.5(AGTR1):c.233del (p.Leu78fs) | AGTR1 | Pathogenic | criteria provided, single submitter |
| 2430252 | NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter) | AGTR1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 50206 | NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter) | AGTR1 | Pathogenic | criteria provided, single submitter |
| 13125 | NM_000537.4(REN):c.36GCT[3] (p.Leu16del) | LOC107548112 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1940593 | NM_000789.4(ACE):c.232G>T (p.Glu78Ter) | LOC130061383 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1067090 | NM_000537.4(REN):c.249+1G>A | REN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 13123 | NM_000537.4(REN):c.145C>T (p.Arg49Ter) | REN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 50210 | NM_000537.4(REN):c.127C>T (p.Arg43Ter) | REN | Pathogenic | criteria provided, single submitter |
| 1723253 | NM_000789.4(ACE):c.1511del (p.Pro504fs) | ACE | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1930250 | NM_000789.4(ACE):c.945+2T>G | ACE | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2585611 | NM_000789.4(ACE):c.3G>T (p.Met1Ile) | ACE | Likely pathogenic | criteria provided, single submitter |
| 2627964 | NM_000789.4(ACE):c.973del (p.Val325fs) | ACE | Likely pathogenic | criteria provided, single submitter |
| 3234989 | NM_000789.4(ACE):c.1342+1G>T | ACE | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3237477 | NM_000789.4(ACE):c.798C>A (p.Tyr266Ter) | ACE | Likely pathogenic | criteria provided, single submitter |
| 3391254 | NM_000789.4(ACE):c.2062C>T (p.Gln688Ter) | ACE | Likely pathogenic | criteria provided, single submitter |
| 3582403 | NM_000789.4(ACE):c.2T>A (p.Met1Lys) | ACE | Likely pathogenic | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 39 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| ACE | Strong | Autosomal recessive | renal tubular dysgenesis of genetic origin | 6 |
| AGT | Strong | Autosomal recessive | renal tubular dysgenesis of genetic origin | 3 |
| AGTR1 | Strong | Autosomal recessive | renal tubular dysgenesis of genetic origin | 5 |
| AGXT | Strong | Autosomal recessive | renal tubular dysgenesis of genetic origin | 9 |
| KCTD11 | Strong | Autosomal recessive | renal tubular dysgenesis of genetic origin | 8 |
| REN | Strong | Autosomal recessive | renal tubular dysgenesis of genetic origin | 8 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| ACE | Orphanet:97369 | Renal tubular dysgenesis of genetic origin |
| AGT | Orphanet:97369 | Renal tubular dysgenesis of genetic origin |
| AGTR1 | Orphanet:97369 | Renal tubular dysgenesis of genetic origin |
| AGXT | Orphanet:93598 | Primary hyperoxaluria type 1 |
| REN | Orphanet:217330 | REN-related autosomal dominant tubulointerstitial kidney disease |
| REN | Orphanet:97369 | Renal tubular dysgenesis of genetic origin |
Cohort genes → proteins
6 cohort genes, 6 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 6 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| KCTD11 | HGNC:21302 | ENSG00000213859 | Q693B1 | BTB/POZ domain-containing protein KCTD11 | gencc,clinvar |
| ACE | HGNC:2707 | ENSG00000159640 | P12821 | Angiotensin-converting enzyme | gencc,clinvar |
| AGT | HGNC:333 | ENSG00000135744 | P01019 | Angiotensinogen | gencc,clinvar |
| AGTR1 | HGNC:336 | ENSG00000144891 | P30556 | Type-1 angiotensin II receptor | gencc,clinvar |
| AGXT | HGNC:341 | ENSG00000172482 | P21549 | Alanine–glyoxylate aminotransferase | gencc,clinvar |
| REN | HGNC:9958 | ENSG00000143839 | P00797 | Renin | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| KCTD11 | BTB/POZ domain-containing protein KCTD11 | Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. |
| ACE | Angiotensin-converting enzyme | Dipeptidyl carboxypeptidase that removes dipeptides from the C-terminus of a variety of circulating hormones, such as angiotensin I, bradykinin or enkephalins, thereby playing a key role in the regulation of blood pressure, electrolyte hom… |
| AGT | Angiotensinogen | Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. |
| AGTR1 | Type-1 angiotensin II receptor | Receptor for angiotensin II, a vasoconstricting peptide, which acts as a key regulator of blood pressure and sodium retention by the kidney. |
| AGXT | Alanine–glyoxylate aminotransferase | Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification. |
| REN | Renin | Renin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retenti… |
Protein-family classification
Druggable: 4 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.67
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.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Protease | 2 | 12.2× | 0.042 |
| GPCR | 1 | 4.0× | 0.452 |
| Enzyme (other) | 1 | 2.0× | 0.543 |
| Other/Unknown | 2 | 0.6× | 0.936 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| KCTD11 | Other/Unknown | no | T1-type_BTB, SKP1/BTB/POZ_sf, KCTD11/21_C | |
| ACE | Protease | yes | 3.4.15.1 | Peptidase_M2 |
| AGT | Other/Unknown | no | Serpin_fam, Angiotensinogen, Serpin_CS | |
| AGTR1 | GPCR | yes | ATII_AT1_rcpt, ATII_rcpt, GPCR_Rhodpsn | |
| AGXT | Enzyme (other) | yes | 2.6.1.44 | Aminotrans_V_dom, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase_small |
| REN | Protease | yes | 3.4.23.15 | Aspartic_peptidase_A1, Aspartic_peptidase_AS, Aspartic_peptidase_N |
Expression context
Cohort genes with no expression data: 0.
6 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 6 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| liver | 2 |
| right lobe of liver | 2 |
| esophagus mucosa | 1 |
| lower esophagus mucosa | 1 |
| tibial nerve | 1 |
| ileal mucosa | 1 |
| left testis | 1 |
| right testis | 1 |
| lateral globus pallidus | 1 |
| placenta | 1 |
| skin of hip | 1 |
| subcutaneous adipose tissue | 1 |
| endometrium epithelium | 1 |
| adult mammalian kidney | 1 |
| decidua | 1 |
| stromal cell of endometrium | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| KCTD11 | 132 | ubiquitous | marker | lower esophagus mucosa, tibial nerve, esophagus mucosa |
| ACE | 177 | ubiquitous | marker | ileal mucosa, right testis, left testis |
| AGT | 255 | broad | marker | right lobe of liver, liver, lateral globus pallidus |
| AGTR1 | 224 | marker | skin of hip, placenta, subcutaneous adipose tissue | |
| AGXT | 125 | tissue_specific | marker | right lobe of liver, liver, endometrium epithelium |
| REN | 126 | tissue_specific | marker | decidua, adult mammalian kidney, stromal cell of endometrium |
Protein interactions among cohort
Intra-cohort edges: 6.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| AGT | 5,091 |
| ACE | 3,659 |
| REN | 3,244 |
| AGTR1 | 2,651 |
| AGXT | 2,648 |
| KCTD11 | 420 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| ACE | AGT | biogrid_interaction, string_interaction |
| ACE | AGTR1 | string_interaction |
| ACE | REN | string_interaction |
| AGT | AGTR1 | intact, string_interaction |
| AGT | REN | biogrid_interaction, intact, string_interaction |
| AGTR1 | REN | string_interaction |
Structural data
PDB: 5 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ACE | P12821 | 97 |
| REN | P00797 | 91 |
| AGT | P01019 | 22 |
| AGXT | P21549 | 17 |
| AGTR1 | P30556 | 11 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| KCTD11 | Q693B1 | 85.00 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 23. Enrichment computed across 6 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Metabolism of Angiotensinogen to Angiotensins | 3 | 380.7× | 8e-07 | ACE, AGT, REN |
| Peptide hormone metabolism | 2 | 108.8× | 0.002 | ACE, AGT |
| Class A/1 (Rhodopsin-like receptors) | 2 | 29.7× | 0.010 | AGT, AGTR1 |
| Peptide ligand-binding receptors | 2 | 29.7× | 0.010 | AGT, AGTR1 |
| GPCR ligand binding | 2 | 25.7× | 0.011 | AGT, AGTR1 |
| G alpha (q) signalling events | 2 | 22.9× | 0.011 | AGT, AGTR1 |
| GPCR downstream signalling | 2 | 17.4× | 0.017 | AGT, AGTR1 |
| Glyoxylate metabolism and glycine degradation | 1 | 152.3× | 0.017 | AGXT |
| Signaling by GPCR | 2 | 16.0× | 0.017 | AGT, AGTR1 |
| Protein localization | 1 | 38.1× | 0.060 | AGXT |
| Peroxisomal protein import | 1 | 34.6× | 0.060 | AGXT |
| Regulation of lipid metabolism by PPARalpha | 1 | 28.2× | 0.067 | AGT |
| Cargo recognition for clathrin-mediated endocytosis | 1 | 20.9× | 0.082 | AGTR1 |
| PPARA activates gene expression | 1 | 18.9× | 0.082 | AGT |
| Clathrin-mediated endocytosis | 1 | 17.0× | 0.082 | AGTR1 |
| Metabolism of proteins | 2 | 5.0× | 0.082 | ACE, AGT |
| Metabolism | 2 | 4.7× | 0.084 | AGT, AGXT |
| Metabolism of amino acids and derivatives | 1 | 13.5× | 0.092 | AGXT |
| Signal Transduction | 2 | 4.1× | 0.096 | AGT, AGTR1 |
| G alpha (i) signalling events | 1 | 7.8× | 0.140 | AGT |
| Membrane Trafficking | 1 | 7.4× | 0.140 | AGTR1 |
| Vesicle-mediated transport | 1 | 7.0× | 0.142 | AGTR1 |
| Metabolism of lipids | 1 | 6.3× | 0.149 | AGT |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| renin-angiotensin regulation of aldosterone production | 3 | 2808.7× | 3e-09 | AGT, AGTR1, REN |
| angiotensin-activated signaling pathway | 3 | 766.0× | 2e-07 | ACE, AGT, AGTR1 |
| regulation of vasoconstriction | 3 | 401.2× | 1e-06 | ACE, AGT, AGTR1 |
| kidney development | 4 | 93.6× | 1e-06 | ACE, AGT, AGTR1, REN |
| regulation of renal output by angiotensin | 2 | 2808.7× | 2e-06 | ACE, AGT |
| maintenance of blood vessel diameter homeostasis by renin-angiotensin | 2 | 1872.4× | 6e-06 | AGT, AGTR1 |
| regulation of renal sodium excretion | 2 | 1404.3× | 1e-05 | AGT, AGTR1 |
| regulation of systemic arterial blood pressure by renin-angiotensin | 2 | 1123.5× | 1e-05 | ACE, AGTR1 |
| regulation of blood pressure | 3 | 110.9× | 2e-05 | ACE, AGT, REN |
| positive regulation of cholesterol metabolic process | 2 | 702.2× | 3e-05 | AGT, AGTR1 |
| amyloid-beta metabolic process | 2 | 510.7× | 6e-05 | ACE, REN |
| angiotensin maturation | 2 | 432.1× | 7e-05 | ACE, REN |
| low-density lipoprotein particle remodeling | 2 | 351.1× | 1e-04 | AGT, AGTR1 |
| positive regulation of macrophage derived foam cell differentiation | 2 | 280.9× | 2e-04 | AGT, AGTR1 |
| blood vessel diameter maintenance | 2 | 208.1× | 3e-04 | ACE, AGTR1 |
| positive regulation of reactive oxygen species metabolic process | 2 | 170.2× | 4e-04 | AGT, AGTR1 |
| blood vessel remodeling | 2 | 127.7× | 6e-04 | ACE, AGT |
| regulation of cell growth | 2 | 73.9× | 0.002 | AGT, AGTR1 |
| regulation of blood volume by renin-angiotensin | 1 | 2808.7× | 0.002 | AGT |
| mononuclear cell proliferation | 1 | 2808.7× | 0.002 | ACE |
| G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger | 1 | 1404.3× | 0.003 | AGT |
| regulation of angiotensin metabolic process | 1 | 1404.3× | 0.003 | ACE |
| response to cGMP | 1 | 1404.3× | 0.003 | REN |
| cell proliferation in bone marrow | 1 | 1404.3× | 0.003 | ACE |
| negative regulation of gap junction assembly | 1 | 1404.3× | 0.003 | ACE |
| male gonad development | 2 | 52.0× | 0.003 | ACE, REN |
| positive regulation of inflammatory response | 2 | 48.4× | 0.003 | AGT, AGTR1 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 2 | 43.9× | 0.003 | AGT, AGTR1 |
| substance P catabolic process | 1 | 936.2× | 0.003 | ACE |
| obsolete glycine biosynthetic process, by transamination of glyoxylate | 1 | 936.2× | 0.003 | AGXT |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 3
Druggability breadth: 6 of 6 evidence-associated genes (100%) 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.
| Symbol | Example approved molecule |
|---|---|
| ACE | TELMISARTAN |
| AGTR1 | IRBESARTAN |
| REN | CAPTOPRIL |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| AGTR1 | 88 | 4 |
| ACE | 31 | 4 |
| REN | 13 | 4 |
| KCTD11 | 0 | 0 |
| AGT | 0 | 0 |
| AGXT | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| TELMISARTAN | 4 | ACE, AGTR1 |
| MOEXIPRIL | 4 | ACE |
| RAMIPRIL | 4 | ACE |
| LISINOPRIL ANHYDROUS | 4 | ACE |
| SITAGLIPTIN | 4 | ACE |
| TRANDOLAPRIL | 4 | ACE |
| CAPTOPRIL | 4 | ACE, REN |
| PERINDOPRIL | 4 | ACE |
| QUINAPRIL | 4 | ACE |
| LOSARTAN | 4 | ACE, AGTR1 |
| FOSINOPRIL | 4 | ACE |
| IMIDAPRIL | 4 | ACE |
| ENALAPRILAT ANHYDROUS | 4 | ACE |
| ENALAPRIL | 4 | ACE |
| BENAZEPRIL | 4 | ACE |
| IRBESARTAN | 4 | AGTR1 |
| SARALASIN | 4 | AGTR1 |
| LOSARTAN POTASSIUM | 4 | AGTR1 |
| CANDESARTAN CILEXETIL | 4 | AGTR1 |
| CLOTRIMAZOLE | 4 | AGTR1 |
| SIMVASTATIN | 4 | AGTR1 |
| VALSARTAN | 4 | AGTR1 |
| RIMONABANT | 4 | AGTR1 |
| ARIPIPRAZOLE | 4 | AGTR1 |
| PONATINIB | 4 | AGTR1 |
| OXYMETHOLONE | 4 | AGTR1 |
| OLMESARTAN MEDOXOMIL | 4 | AGTR1 |
| NORGESTIMATE | 4 | AGTR1 |
| ROCURONIUM | 4 | AGTR1 |
| PYRVINIUM | 4 | AGTR1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 3.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| REN | 541 | Binding:472, Functional:68, ADMET:1 |
| AGTR1 | 421 | Binding:315, Functional:105, ADMET:1 |
| ACE | 304 | Binding:288, Functional:8, ADMET:5, Unclassified:3 |
| AGXT | 8 | Binding:8 |
| AGT | 2 | Binding:2 |
| KCTD11 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| ACE | 3.4.15.1 | peptidyl-dipeptidase A |
| AGXT | 2.6.1.44, 2.6.1.51 | alanine-glyoxylate transaminase, serine-pyruvate transaminase |
| REN | 3.4.23.15 | renin |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| ACE | 304 |
| AGTR1 | 421 |
| REN | 541 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 6; 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| TELMISARTAN | 4 | ACE, AGTR1 |
| MOEXIPRIL | 4 | ACE |
| RAMIPRIL | 4 | ACE |
| LISINOPRIL ANHYDROUS | 4 | ACE |
| SITAGLIPTIN | 4 | ACE |
| TRANDOLAPRIL | 4 | ACE |
| CAPTOPRIL | 4 | ACE, REN |
| PERINDOPRIL | 4 | ACE |
| QUINAPRIL | 4 | ACE |
| LOSARTAN | 4 | ACE, AGTR1 |
| FOSINOPRIL | 4 | ACE |
| IMIDAPRIL | 4 | ACE |
| ENALAPRILAT ANHYDROUS | 4 | ACE |
| ENALAPRIL | 4 | ACE |
| BENAZEPRIL | 4 | ACE |
| IRBESARTAN | 4 | AGTR1 |
| SARALASIN | 4 | AGTR1 |
| LOSARTAN POTASSIUM | 4 | AGTR1 |
| CANDESARTAN CILEXETIL | 4 | AGTR1 |
| CLOTRIMAZOLE | 4 | AGTR1 |
| SIMVASTATIN | 4 | AGTR1 |
| VALSARTAN | 4 | AGTR1 |
| RIMONABANT | 4 | AGTR1 |
| ARIPIPRAZOLE | 4 | AGTR1 |
| PONATINIB | 4 | AGTR1 |
| OXYMETHOLONE | 4 | AGTR1 |
| OLMESARTAN MEDOXOMIL | 4 | AGTR1 |
| NORGESTIMATE | 4 | AGTR1 |
| ROCURONIUM | 4 | AGTR1 |
| PYRVINIUM | 4 | AGTR1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | ACE, AGTR1, REN |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | AGXT |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 2 | KCTD11, AGT |
Undrugged target profiles
3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| AGT | 2 | AGTR1, ACE, REN |
| KCTD11 | 1 | — |
| AGXT | 8 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.