OSR1
gene geneOn this page
Summary
OSR1 (odd-skipped related transcription factor 1, HGNC:8111) is a protein-coding gene on chromosome 2p24.1, encoding Protein odd-skipped-related 1 (Q8TAX0). Transcription factor that plays a role in the regulation of embryonic heart and urogenital development.
Enables sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transporter activity; positive regulation of gastrulation; and pronephros development. Located in nucleus.
Source: NCBI Gene 130497 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital heart disease (Disputed, ClinGen)
- GWAS associations: 14
- Clinical variants (ClinVar): 44 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_145260
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8111 |
| Approved symbol | OSR1 |
| Name | odd-skipped related transcription factor 1 |
| Location | 2p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000143867 |
| Ensembl biotype | protein_coding |
| OMIM | 608891 |
| Entrez | 130497 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000272223, ENST00000487581, ENST00000498844, ENST00000852234, ENST00000852235, ENST00000852236, ENST00000946722, ENST00000946723, ENST00000946724, ENST00000946725
RefSeq mRNA: 1 — MANE Select: NM_145260
NM_145260
CCDS: CCDS1694
Canonical transcript exons
ENST00000272223 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001001053 | 19353141 | 19353837 |
| ENSE00001184687 | 19358341 | 19358623 |
| ENSE00001184696 | 19351485 | 19352410 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 96.34.
FANTOM5 (CAGE): breadth broad, TPM avg 0.4552 / max 16.9462, expressed in 270 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27060 | 13.2921 | 925 |
| 27059 | 0.2878 | 182 |
| 27057 | 0.0905 | 37 |
| 27058 | 0.0769 | 34 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| descending thoracic aorta | UBERON:0002345 | 96.34 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.02 | gold quality |
| ascending aorta | UBERON:0001496 | 96.01 | gold quality |
| aorta | UBERON:0000947 | 93.83 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.40 | gold quality |
| lower esophagus | UBERON:0013473 | 93.28 | gold quality |
| popliteal artery | UBERON:0002250 | 92.39 | gold quality |
| tibial artery | UBERON:0007610 | 92.37 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.98 | gold quality |
| right coronary artery | UBERON:0001625 | 89.91 | gold quality |
| omental fat pad | UBERON:0010414 | 89.76 | gold quality |
| peritoneum | UBERON:0002358 | 89.63 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 88.46 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.75 | gold quality |
| left coronary artery | UBERON:0001626 | 87.39 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.10 | gold quality |
| coronary artery | UBERON:0001621 | 86.65 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 86.31 | gold quality |
| urinary bladder | UBERON:0001255 | 86.27 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 86.20 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 83.56 | gold quality |
| mouth mucosa | UBERON:0003729 | 83.34 | gold quality |
| upper lobe of lung | UBERON:0008948 | 82.58 | gold quality |
| right atrium auricular region | UBERON:0006631 | 81.93 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.28 | gold quality |
| cardiac atrium | UBERON:0002081 | 80.50 | gold quality |
| adipose tissue | UBERON:0001013 | 79.79 | gold quality |
| gall bladder | UBERON:0002110 | 79.78 | gold quality |
| vagina | UBERON:0000996 | 79.68 | gold quality |
| apex of heart | UBERON:0002098 | 79.64 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 13.17 |
| E-CURD-10 | no | 2.44 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1542.1 | OSR1 | Other factors with up to three adjacent zinc fingers |
| MA1542.2 | OSR1 | Other factors with up to three adjacent zinc fingers |
JASPAR matrix evidence (PMIDs): PMID:29084951
miRNA regulators (miRDB)
81 targeting OSR1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
Literature-anchored findings (GeneRIF, showing 12)
- first report on molecular cloning and characterization of human OSR1 (PMID:12119563)
- OSR1 is expressed in human mesenchymal stem cells, the blastemal component of Wilms tumors and CD24+/CD133+ progenitor cells isolated from the mature kidney. (PMID:21821672)
- OSR1 acts as a functional tumour suppressor in gastric cancer (PMID:24931004)
- The findings of the present study showed, for the first time, the role of the OSR1 rs12329305 polymorphism in the development of congenital malformations in cases of stillborn/neonatal death. (PMID:25164089)
- In summary, our study implicated a gene network involving Tbx5, Osr1 and Pcsk6 interaction in second heart field for atrial septation, providing a molecular framework for understanding the role of Tbx5 in congenital heart disease ontogeny. (PMID:26744331)
- OSR1 was downregulated in RCC cells by promoter methylation. OSR1 can function as a tumor suppressor via inhibition of invasion and proliferation in RCC cells, possibly via upregulating tumor suppressor genes and downregulating oncogenes. (PMID:28404905)
- OSR1 was sequenced in 186 children with primary vesicoureteric reflux, and 17 have single nucleotide polymorphisms (PMID:28724605)
- Kir2.1 and Kir2.3, are activated by OSR1 through a motif variant, R-x-F-x-V/I. (PMID:29581290)
- Odd-skipped related 1 (OSR1) downregulated the activity of the Wnt signaling pathway by suppressing the expression of sex-determining region Y-box 9 (SOX9) and beta-catenin. (PMID:29660200)
- OSR1 inhibited TSCC cell migration and invasion through inhibiting NF-kappaB pathway (PMID:30244004)
- Odd-skipped related 1 plays a tumor suppressor role in ovarian cancer via promoting follistatin-like protein 1 transcription. (PMID:35964260)
- OSR1 disruption contributes to uterine factor infertility via impaired Mullerian duct development and endometrial receptivity. (PMID:37847567)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | osr1 | ENSDARG00000014091 |
| mus_musculus | Osr1 | ENSMUSG00000048387 |
| rattus_norvegicus | Osr1 | ENSRNOG00000004210 |
| drosophila_melanogaster | drm | FBGN0024244 |
| caenorhabditis_elegans | WBGENE00003845 |
Paralogs (1): OSR2 (ENSG00000164920)
Protein
Protein identifiers
Protein odd-skipped-related 1 — Q8TAX0 (reviewed: Q8TAX0)
All UniProt accessions (1): Q8TAX0
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that plays a role in the regulation of embryonic heart and urogenital development.
Subcellular location. Nucleus.
Tissue specificity. Expressed in adult colon, small intestine, prostate, testis, and fetal lung.
Similarity. Belongs to the Odd C2H2-type zinc-finger protein family.
RefSeq proteins (1): NP_660303* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR050717 | C2H2-ZF_Transcription_Reg | Family |
Pfam: PF00096
UniProt features (6 total): zinc finger region 3, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TAX0-F1 | 60.59 | 0.01 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 116
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9761174 | Formation of intermediate mesoderm |
| R-HSA-9830364 | Formation of the nephric duct |
MSigDB gene sets: 331 (showing top):
ATF_B, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_URETER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, MYOGENIN_Q6, GOBP_METANEPHROS_DEVELOPMENT, TGCGCANK_UNKNOWN, GOBP_CARTILAGE_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_SODIUM_ION_TRANSPORT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_LIPID
GO Biological Process (52): negative regulation of transcription by RNA polymerase II (GO:0000122), urogenital system development (GO:0001655), ureteric bud development (GO:0001657), mesonephros development (GO:0001823), chondrocyte differentiation (GO:0002062), pattern specification process (GO:0007389), heart development (GO:0007507), gonad development (GO:0008406), positive regulation of gene expression (GO:0010628), cell differentiation (GO:0030154), positive regulation of bone mineralization (GO:0030501), negative regulation of epithelial cell differentiation (GO:0030857), negative regulation of transmembrane transport (GO:0034763), embryonic forelimb morphogenesis (GO:0035115), embryonic hindlimb morphogenesis (GO:0035116), sodium ion transmembrane transport (GO:0035725), embryonic skeletal limb joint morphogenesis (GO:0036023), middle ear morphogenesis (GO:0042474), odontogenesis (GO:0042476), embryonic digit morphogenesis (GO:0042733), negative regulation of apoptotic process (GO:0043066), positive regulation of transcription by RNA polymerase II (GO:0045944), intermediate mesoderm development (GO:0048389), pronephros development (GO:0048793), stem cell differentiation (GO:0048863), positive regulation of epithelial cell proliferation (GO:0050679), roof of mouth development (GO:0060021), embryonic skeletal joint morphogenesis (GO:0060272), cellular response to retinoic acid (GO:0071300), metanephric mesenchyme development (GO:0072075), cell proliferation involved in kidney development (GO:0072111), metanephric mesenchyme morphogenesis (GO:0072133), mesangial cell development (GO:0072143), metanephric mesenchymal cell differentiation (GO:0072162), posterior mesonephric tubule development (GO:0072166), specification of anterior mesonephric tubule identity (GO:0072168), specification of posterior mesonephric tubule identity (GO:0072169), mesonephric duct morphogenesis (GO:0072180), negative regulation of nephron tubule epithelial cell differentiation (GO:0072183), renal vesicle progenitor cell differentiation (GO:0072184)
GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), transporter inhibitor activity (GO:0141110), sequence-specific double-stranded DNA binding (GO:1990837), metal ion binding (GO:0046872)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), cytosol (GO:0005829), cell cortex (GO:0005938)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Gastrulation | 1 |
| Kidney development | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| embryonic limb morphogenesis | 4 |
| regulation of transcription by RNA polymerase II | 2 |
| animal organ development | 2 |
| embryonic morphogenesis | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| system development | 1 |
| renal system development | 1 |
| mesonephric tubule development | 1 |
| kidney development | 1 |
| cell differentiation | 1 |
| cartilage development | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| circulatory system development | 1 |
| development of primary sexual characteristics | 1 |
| reproductive structure development | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| cellular developmental process | 1 |
| bone mineralization | 1 |
| regulation of bone mineralization | 1 |
| positive regulation of ossification | 1 |
| positive regulation of biomineral tissue development | 1 |
| epithelial cell differentiation | 1 |
| regulation of epithelial cell differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of transmembrane transport | 1 |
| negative regulation of cellular process | 1 |
| negative regulation of transport | 1 |
| transmembrane transport | 1 |
| forelimb morphogenesis | 1 |
| hindlimb morphogenesis | 1 |
| sodium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| limb joint morphogenesis | 1 |
| embryonic skeletal joint morphogenesis | 1 |
Protein interactions and networks
STRING
572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OSR1 | PRRX1 | P54821 | 540 |
| OSR1 | PAX2 | Q02962 | 441 |
| OSR1 | TAPT1 | Q6NXT6 | 435 |
| OSR1 | TWIST2 | Q8WVJ9 | 427 |
| OSR1 | BMPR1A | P36894 | 410 |
| OSR1 | LGALS4 | P56470 | 404 |
| OSR1 | SIX2 | Q9NPC8 | 399 |
| OSR1 | MEIS1 | O00470 | 387 |
| OSR1 | SRRT | Q9BXP5 | 376 |
| OSR1 | TGIF1 | Q15583 | 372 |
| OSR1 | MEOX2 | P50222 | 370 |
| OSR1 | SMAD6 | O43541 | 366 |
| OSR1 | LHX1 | P48742 | 364 |
| OSR1 | NR2C2 | P49116 | 353 |
| OSR1 | HOXD9 | P28356 | 343 |
IntAct
0 interactions, top by confidence:
BioGRID (6): OSR1 (Reconstituted Complex), VHL (Affinity Capture-Western), EGLN1 (Affinity Capture-Western), OSR1 (Affinity Capture-Western), VHL (Affinity Capture-Western), EGLN1 (Affinity Capture-Western)
ESM2 similar proteins: A0JPB4, A0PJY2, B0K011, O08876, O15090, O57415, O62651, O70237, O75626, O95863, P19544, P22561, P41183, P49952, P55878, P86413, Q02085, Q08DS3, Q0IHB8, Q0P4W9, Q0VDQ9, Q25C93, Q28G88, Q2TAR3, Q2VWH6, Q32NK7, Q3MHQ4, Q3T135, Q3UH06, Q567J8, Q5T0B9, Q5VTD9, Q5XJQ7, Q60636, Q62255, Q66JF8, Q6AY34, Q6DBW0, Q6NRM0, Q804Q5
Diamond homologs: B0K011, E9Q6W4, P23803, P41995, P86413, Q08DS3, Q0IHB8, Q32NK7, Q3T135, Q567J8, Q5XJQ7, Q62255, Q66JF8, Q6AY34, Q7PN68, Q8I7Z8, Q8N2R0, Q8TAX0, Q8WUU4, Q91ZD1, Q9BXA9, Q9N5X6, Q9UJQ4, Q9VQS6, Q9VQS7, Q9VQU9, Q9WVG7, B0X9H6, O75362, O77459, P28698, P31509, P60319, P80944, Q01798, Q02026, Q02027, Q292R5, Q29419, Q3US17
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1728 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:19352356:G:C | F240L | 1.000 |
| 2:19352356:G:T | F240L | 1.000 |
| 2:19352357:A:G | F240S | 1.000 |
| 2:19352358:A:G | F240L | 1.000 |
| 2:19353145:G:C | H221D | 1.000 |
| 2:19353153:A:G | L218P | 1.000 |
| 2:19353170:G:C | F212L | 1.000 |
| 2:19353170:G:T | F212L | 1.000 |
| 2:19353171:A:G | F212S | 1.000 |
| 2:19353172:A:G | F212L | 1.000 |
| 2:19353184:A:G | C208R | 1.000 |
| 2:19353193:A:G | C205R | 1.000 |
| 2:19353215:G:C | H197Q | 1.000 |
| 2:19353215:G:T | H197Q | 1.000 |
| 2:19353222:C:G | R195P | 1.000 |
| 2:19353229:G:C | H193D | 1.000 |
| 2:19353229:G:T | H193N | 1.000 |
| 2:19353237:A:G | L190P | 1.000 |
| 2:19353254:G:C | F184L | 1.000 |
| 2:19353254:G:T | F184L | 1.000 |
| 2:19353255:A:G | F184S | 1.000 |
| 2:19353256:A:G | F184L | 1.000 |
| 2:19353267:C:T | C180Y | 1.000 |
| 2:19353268:A:G | C180R | 1.000 |
| 2:19353277:A:G | C177R | 1.000 |
| 2:19352331:G:C | H249D | 0.999 |
| 2:19352331:G:T | H249N | 0.999 |
| 2:19352357:A:C | F240C | 0.999 |
| 2:19352370:A:G | C236R | 0.999 |
| 2:19352379:A:G | C233R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000044354 (2:19349774 C>T), RS1000115812 (2:19348432 C>G), RS1000178360 (2:19344662 C>T), RS1000522411 (2:19345801 G>C), RS1000595919 (2:19346077 T>C), RS1000627897 (2:19346238 A>G), RS1000928751 (2:19345135 T>C), RS1001234363 (2:19347772 G>A,C), RS1001312727 (2:19344965 A>C), RS1001332478 (2:19350686 A>G), RS1001345533 (2:19356957 T>C), RS1001384180 (2:19345211 T>C), RS1001659457 (2:19350460 A>G), RS1001696742 (2:19353021 A>G), RS1001885948 (2:19357544 GGACA>G)
Disease associations
OMIM: gene MIM:608891 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Disputed Evidence | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Disputed | AD |
Mondo (1): congenital heart disease (MONDO:0005453)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003274_3 | Pulse pressure | 8.000000e-12 |
| GCST003991_8 | Childhood ear infection | 2.000000e-10 |
| GCST003996_38 | Monobrow | 3.000000e-17 |
| GCST004775_15 | Pulse pressure | 1.000000e-06 |
| GCST005013_30 | Childhood ear infection | 2.000000e-10 |
| GCST006108_3 | Facial morphology | 7.000000e-08 |
| GCST006108_5 | Facial morphology | 3.000000e-08 |
| GCST007096_145 | Pulse pressure | 5.000000e-24 |
| GCST007097_155 | Pulse pressure | 7.000000e-06 |
| GCST007099_252 | Systolic blood pressure | 8.000000e-09 |
| GCST010479_55 | Coronary artery disease | 1.000000e-13 |
| GCST010866_30 | Coronary artery disease | 7.000000e-29 |
| GCST010867_26 | Coronary artery disease | 7.000000e-07 |
| GCST010867_27 | Coronary artery disease | 2.000000e-14 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0007904 | susceptibility to childhood ear infection measurement |
| EFO:0007906 | synophrys measurement |
| EFO:0004743 | facial morphology |
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006330 | Heart Defects, Congenital | C14.240.400; C14.280.400; C16.131.240.400 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523406 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL5314346 | VERTEPORFIN | 4 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.72 | IC50 | 19.1 | nM | STAUROSPORINE |
| 7.21 | IC50 | 61.3 | nM | STAUROSPORINE |
| 6.70 | IC50 | 200 | nM | VERTEPORFIN |
PubChem BioAssay actives
2 with measured affinity, of 49 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one | 1715237: Inhibition of human OSR1 using RRHYYYDTHTNTYYLRTFGHNTRR as substrate by [gamma-33P]-ATP assay | ic50 | 0.0191 | uM |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases methylation, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| polyhexamethyleneguanidine | increases response to substance | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Arsenic | increases methylation | 1 |
| Aspirin | increases expression | 1 |
| Cadmium | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Methotrexate | increases expression | 1 |
| Nickel | decreases expression | 1 |
ChEMBL screening assays
40 unique, capped per target: 40 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4327806 | Binding | Inhibition of human OSR1 assessed as residual activity at 1 uM using RRHYYYDTHTNTYYLRTFGHNTRR as substrate by [gamma-33P]-ATP assay relative to control | ASR352, A potent anticancer agent: Synthesis, preliminary SAR, and biological activities against colorectal cancer bulk, 5-fluorouracil/oxaliplatin resistant and stem cells. — Eur J Med Chem |
Cellosaurus cell lines
6 cell lines: 3 embryonic stem cell, 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A5A2 | SEES3-1V human OSR1, clone1 | Embryonic stem cell | Male |
| CVCL_A5A3 | SEES3-1V human OSR1, clone2 | Embryonic stem cell | Male |
| CVCL_A5A4 | SEES3-1V human OSR1, clone3 | Embryonic stem cell | Male |
| CVCL_TB64 | HAP1 OSR1 (-) 1 | Cancer cell line | Male |
| CVCL_TB65 | HAP1 OSR1 (-) 2 | Cancer cell line | Male |
| CVCL_TB66 | HAP1 OSR1 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00668824 | PHASE4 | UNKNOWN | Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist |
| NCT01368705 | PHASE4 | COMPLETED | Nitrogen Balance in Infants After Post Cardiothoracic Surgery |
| NCT01619982 | PHASE4 | COMPLETED | Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients |
| NCT02122679 | PHASE4 | WITHDRAWN | Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass |
| NCT02527811 | PHASE4 | UNKNOWN | Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery |
| NCT03014700 | PHASE4 | COMPLETED | Fibrinogen Concentrate vs Cryoprecipitate |
| NCT03408340 | PHASE4 | TERMINATED | Paravertebral Nerve Blocks in Neonates |
| NCT03630796 | PHASE4 | UNKNOWN | Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery |
| NCT03667703 | PHASE4 | COMPLETED | Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease |
| NCT04453761 | PHASE4 | UNKNOWN | Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass |
| NCT06668389 | PHASE4 | RECRUITING | Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial |
| NCT07499154 | PHASE4 | NOT_YET_RECRUITING | Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery |
| NCT00000470 | PHASE3 | COMPLETED | Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest |
| NCT00000494 | PHASE3 | COMPLETED | Management of Patent Ductus in Premature Infants |
| NCT01134302 | PHASE3 | UNKNOWN | Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation |
| NCT01607983 | PHASE3 | WITHDRAWN | Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients |
| NCT01662011 | PHASE3 | UNKNOWN | Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery |
| NCT02320669 | PHASE3 | COMPLETED | Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass |
| NCT02615262 | PHASE3 | COMPLETED | Intraoperative Dexamethasone in Pediatric Cardiac Surgery |
| NCT03153137 | PHASE3 | COMPLETED | Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects |
| NCT03154476 | PHASE3 | COMPLETED | Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study |
| NCT04536194 | PHASE3 | COMPLETED | Dopamine Versus Norepinephrine Under General Anesthesia |
| NCT04702373 | PHASE3 | ACTIVE_NOT_RECRUITING | Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT |
| NCT05049590 | PHASE3 | COMPLETED | Acute Normovolemic Hemodilution in Complex Cardiac Surgery |
| NCT06406517 | PHASE3 | UNKNOWN | Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics |
| NCT06693674 | PHASE3 | RECRUITING | Effect of Sacubitril-Valsartan on Cardiac Structure and Function |
| NCT06955260 | PHASE3 | NOT_YET_RECRUITING | SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure |
| NCT00115375 | PHASE2 | COMPLETED | Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO) |
| NCT00350220 | PHASE2 | COMPLETED | Transfusion Strategies in Pediatric Cardiothoracic Surgery |
| NCT00374088 | PHASE2 | COMPLETED | N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) |
| NCT00538785 | PHASE2 | COMPLETED | A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease |
| NCT00770705 | PHASE2 | WITHDRAWN | Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery |
| NCT00919945 | PHASE2 | TERMINATED | Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn |
| NCT01063712 | PHASE2 | COMPLETED | Safety and Effectiveness of the Device Nit-Occlud® PDA-R |
| NCT01069510 | PHASE2 | COMPLETED | Spironolactone in Adult Congenital Heart Disease |
| NCT01189981 | PHASE2 | COMPLETED | Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease |
| NCT01330433 | PHASE2 | COMPLETED | Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery |
| NCT01662037 | PHASE2 | COMPLETED | Bosentan Therapy in Children With Functional Single Ventricle |
| NCT01668264 | PHASE2 | UNKNOWN | Imaging Assessment of Diastolic Function |
| NCT01827059 | PHASE2 | UNKNOWN | Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE |
Related Atlas pages
- Associated diseases: congenital heart disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital heart disease