ASCL3
gene geneOn this page
Also known as bHLHa42HASH3Sgn1
Summary
ASCL3 (achaete-scute family bHLH transcription factor 3, HGNC:740) is a protein-coding gene on chromosome 11p15.4, encoding Achaete-scute homolog 3 (Q9NQ33). Transcriptional repressor.
Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).
Source: NCBI Gene 56676 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 39 total
- GTEx eGene: eQTL in 2 tissues, sQTL in 0 (q < 0.05)
- Constraint (gnomAD): pLI 0.06 (LoF-tolerant), LOEUF 1.50 (unconstrained)
- MANE Select transcript:
NM_020646
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:740 |
| Approved symbol | ASCL3 |
| Name | achaete-scute family bHLH transcription factor 3 |
| Location | 11p15.4 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | bHLHa42, HASH3, Sgn1 |
| Ensembl gene | ENSG00000176009 |
| Ensembl biotype | protein_coding |
| OMIM | 609154 |
| Entrez | 56676 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
MANE Select: ENST00000531618
ENST00000531618
RefSeq mRNA: 1 — MANE Select: NM_020646
NM_020646
CCDS: CCDS7795
Canonical transcript exons
ENST00000531618 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002200903 | 8937578 | 8938173 |
| ENSE00003934416 | 8942986 | 8943016 |
Expression profiles
Bgee: expression breadth broad, 51 present calls, max score 76.33.
Highest expression (Bgee): olfactory segment of nasal mucosa, hair follicle, minor salivary gland, saliva-secreting gland, mouth mucosa.
Genetic regulation across tissues (GTEx eQTL / sQTL)
ASCL3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 2 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
2 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Testis | eqtl | 1.2e-02 | -1.11 | 11:9929837:A:G |
| Minor Salivary Gland | eqtl | 3.2e-02 | +0.29 | 11:8926510:C:T |
Top tissues by expression
showing 100 of 189 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 76.33 | gold quality |
| hair follicle | UBERON:0002073 | 72.99 | gold quality |
| minor salivary gland | UBERON:0001830 | 70.77 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 69.76 | gold quality |
| mouth mucosa | UBERON:0003729 | 67.11 | gold quality |
| bone marrow cell | CL:0002092 | 65.83 | gold quality |
| parotid gland | UBERON:0001831 | 63.60 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 58.52 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 57.61 | gold quality |
| colonic epithelium | UBERON:0000397 | 57.05 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| sural nerve | UBERON:0015488 | 47.88 | silver quality |
| cranial nerve II | UBERON:0000941 | 47.39 | silver quality |
| periodontal ligament | UBERON:0008266 | 47.14 | gold quality |
| renal glomerulus | UBERON:0000074 | 46.86 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 46.77 | gold quality |
| nephron tubule | UBERON:0001231 | 46.71 | gold quality |
| tonsil | UBERON:0002372 | 46.37 | gold quality |
| bone marrow | UBERON:0002371 | 46.01 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 45.90 | silver quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 45.35 | gold quality |
| inferior olivary complex | UBERON:0002127 | 45.14 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 44.31 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 43.37 | gold quality |
| gingiva | UBERON:0001828 | 43.36 | gold quality |
| renal medulla | UBERON:0000362 | 42.66 | gold quality |
| secondary oocyte | CL:0000655 | 42.57 | gold quality |
| medulla oblongata | UBERON:0001896 | 42.39 | gold quality |
| gingival epithelium | UBERON:0001949 | 42.19 | gold quality |
| tongue | UBERON:0001723 | 42.12 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 41.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 41.41 | gold quality |
| quadriceps femoris | UBERON:0001377 | 41.37 | gold quality |
| superficial temporal artery | UBERON:0001614 | 41.33 | gold quality |
| cortical plate | UBERON:0005343 | 41.33 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 40.90 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 40.88 | gold quality |
| amniotic fluid | UBERON:0000173 | 40.69 | gold quality |
| jejunal mucosa | UBERON:0000399 | 40.59 | gold quality |
| biceps brachii | UBERON:0001507 | 40.57 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 40.50 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 40.45 | gold quality |
| myocardium | UBERON:0002349 | 40.45 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 40.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 40.29 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 40.27 | gold quality |
| jejunum | UBERON:0002115 | 40.18 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 40.18 | gold quality |
| cartilage tissue | UBERON:0002418 | 40.06 | gold quality |
| oviduct epithelium | UBERON:0004804 | 40.03 | gold quality |
| mammary duct | UBERON:0001765 | 39.98 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 39.95 | gold quality |
| oral cavity | UBERON:0000167 | 39.86 | gold quality |
| deltoid | UBERON:0001476 | 39.83 | gold quality |
| saphenous vein | UBERON:0007318 | 39.83 | gold quality |
| oocyte | CL:0000023 | 39.80 | gold quality |
| urethra | UBERON:0000057 | 39.80 | gold quality |
| heart right ventricle | UBERON:0002080 | 39.79 | gold quality |
| pericardium | UBERON:0002407 | 39.77 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 39.77 | gold quality |
| endothelial cell | CL:0000115 | 39.75 | gold quality |
| synovial joint | UBERON:0002217 | 39.70 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 39.68 | gold quality |
| nipple | UBERON:0002030 | 39.68 | gold quality |
| penis | UBERON:0000989 | 39.64 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 39.63 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 39.60 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 39.57 | gold quality |
| superior surface of tongue | UBERON:0007371 | 39.56 | gold quality |
| pylorus | UBERON:0001166 | 39.55 | gold quality |
| muscle tissue | UBERON:0002385 | 39.54 | silver quality |
| pons | UBERON:0000988 | 39.51 | gold quality |
| thymus | UBERON:0002370 | 39.50 | gold quality |
| cardia of stomach | UBERON:0001162 | 39.46 | gold quality |
| colonic mucosa | UBERON:0000317 | 39.45 | gold quality |
| parietal pleura | UBERON:0002400 | 39.45 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 39.40 | gold quality |
| cerebellar vermis | UBERON:0004720 | 39.37 | gold quality |
| ventral tegmental area | UBERON:0002691 | 39.35 | gold quality |
| trachea | UBERON:0003126 | 39.33 | gold quality |
| parietal lobe | UBERON:0001872 | 39.32 | gold quality |
| vena cava | UBERON:0004087 | 39.31 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 39.27 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 39.23 | gold quality |
| visceral pleura | UBERON:0002401 | 39.23 | gold quality |
| postcentral gyrus | UBERON:0002581 | 39.23 | gold quality |
| body of tongue | UBERON:0011876 | 39.22 | gold quality |
| medial globus pallidus | UBERON:0002477 | 39.18 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 39.18 | gold quality |
| globus pallidus | UBERON:0001875 | 39.15 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 39.11 | gold quality |
| caecum | UBERON:0001153 | 39.05 | gold quality |
| entorhinal cortex | UBERON:0002728 | 39.05 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 39.00 | gold quality |
| corpus epididymis | UBERON:0004359 | 38.98 | gold quality |
| tibia | UBERON:0000979 | 38.93 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 38.81 | gold quality |
| urinary bladder | UBERON:0001255 | 38.77 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 12.12 |
| E-ANND-3 | no | 1.63 |
HPA expression
RNA tissue specificity: Tissue enriched
showing 60 of 67 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Salivary gland | tissue | 7.5 | medium |
| Medulla oblongata | tissue | 1.1 | |
| Choroid plexus | tissue | 0.8 | |
| Spinal cord | tissue | 0.8 | |
| Retrosplenial cortex | tissue | 0.7 | |
| Hippocampus | tissue | 0.6 | low |
| Putamen | tissue | 0.5 | |
| Nucleus accumbens | tissue | 0.5 | |
| Substantia nigra | tissue | 0.5 | |
| Locus coeruleus | tissue | 0.5 | |
| Thymus | tissue | 0.5 | |
| Cerebellum | tissue | 0.4 | low |
| Cerebral cortex | tissue | 0.3 | medium |
| Basal ganglia | tissue | 0.3 | low |
| Corpus callosum | tissue | 0.3 | |
| Ventral forebrain | tissue | 0.3 | |
| Somatosensory cortex | tissue | 0.3 | |
| Retina | tissue | 0.2 | |
| Pons | tissue | 0.2 | |
| Frontal cortex | tissue | 0.2 | |
| Thalamus | tissue | 0.2 | |
| Hypothalamus | tissue | 0.2 | |
| Retrosplenial and cingulate cortex | tissue | 0.2 | |
| Caudate putamen | tissue | 0.2 | |
| Cervix | tissue | 0.1 | medium |
| Testis | tissue | 0.1 | medium |
| Amygdala | tissue | 0.1 | |
| Midbrain | tissue | 0.1 | |
| Spleen | tissue | 0.1 | low |
| Duodenum | tissue | 0.1 | medium |
| Prostate | tissue | 0.1 | not detected |
| Tonsil | tissue | 0.1 | low |
| Postcentral gyrus | tissue | 0.1 | |
| Entorhinal cortex | tissue | 0.1 | |
| Olfactory bulb | tissue | 0.1 | |
| Occipital cortex | tissue | 0.1 | |
| Skin 1 | tissue | 0.0 | medium |
| Lymph node | tissue | 0.0 | low |
| Breast | tissue | 0.0 | medium |
| Stomach 1 | tissue | 0.0 | low |
| Heart muscle | tissue | 0.0 | low |
| Ovary | tissue | 0.0 | low |
| Vagina | tissue | 0.0 | medium |
| Seminal vesicle | tissue | 0.0 | low |
| Adipose tissue | tissue | 0.0 | low |
| Esophagus | tissue | 0.0 | medium |
| Rectum | tissue | 0.0 | low |
| Parathyroid gland | tissue | 0.0 | medium |
| Skeletal muscle | tissue | 0.0 | medium |
| Smooth muscle | tissue | 0.0 | low |
| Colon | tissue | 0.0 | low |
| Urinary bladder | tissue | 0.0 | low |
| Endometrium 1 | tissue | 0.0 | medium |
| Epididymis | tissue | 0.0 | medium |
| Thyroid gland | tissue | 0.0 | medium |
| Lung | tissue | 0.0 | low |
| Small intestine | tissue | 0.0 | low |
| Gallbladder | tissue | 0.0 | medium |
| Kidney | tissue | 0.0 | medium |
| Adrenal gland | tissue | 0.0 | medium |
Brain sub-regions (HPA Brain Atlas): detected in 187; highest nTPM — Flocculonodular lobe (1.3), Vermis (1.3), Cerebellar cortex (1.1), Nucleus gracilis (1.1), Area postrema (1.0).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets:
| Target | Regulation |
|---|---|
| CD74 | |
| ERVW-4 |
Functional genomics
gnomAD constraint: pLI 0.0567, LOEUF 1.5, missense Z -0.0424 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000531618 — one region, missense o/e 1.06.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ascl1a | ENSDARG00000038386 |
| mus_musculus | Ascl3 | ENSMUSG00000035951 |
| rattus_norvegicus | Ascl3 | ENSRNOG00000013591 |
| drosophila_melanogaster | ac | FBGN0000022 |
| drosophila_melanogaster | ase | FBGN0000137 |
Paralogs (4): ASCL1 (ENSG00000139352), ASCL2 (ENSG00000183734), ASCL4 (ENSG00000187855), ASCL5 (ENSG00000232237)
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Xenopus laevis | Q06234 | 88.4% | Diamond |
| Gallus gallus | P24899 | 80.3% | Diamond |
| Bos taurus | Q2EGB9 | 78.8% | Diamond |
| Caenorhabditis elegans | Q18590 | 71.8% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| DENND2B-AS1 | ncRNA | 102724784 |
| AKIP1 | protein-coding | 56672 |
| C11orf16 | protein-coding | 56673 |
| DENND2B | protein-coding | 6764 |
| MIR5691 | ncRNA | 100847015 |
| TMEM9B-AS1 | ncRNA | 493900 |
| TMEM9B | protein-coding | 56674 |
| NRIP3 | protein-coding | 56675 |
| SCUBE2 | protein-coding | 57758 |
| NRIP3-DT | ncRNA | 105376541 |
| RPL27A | protein-coding | 6157 |
| SNORA3A | snoRNA | 619562 |
| SNORA3B | snoRNA | 677826 |
Protein
Protein identifiers
Achaete-scute homolog 3 — Q9NQ33 (reviewed: Q9NQ33)
Alternative names: Class A basic helix-loop-helix protein 42, bHLH transcriptional regulator Sgn-1
All UniProt accessions (1): Q9NQ33
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional repressor. Inhibits myogenesis. Plays a role in progenitor cells which differentiate into ductal and acinar, but not myoepithelial, cell lineages in the salivary glands. Involved in the functions of the microvillar cells and Bowman’s glands and probably, in a non-cell-autonomous manner, in the development or regeneration of a complete olfactory epithelium (OE).
Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed in fetal and adult tissues.
RefSeq proteins (1): NP_065697* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR050283 | E-box_TF_Regulators | Family |
Pfam: PF00010
UniProt features (5 total): region of interest 2, chain 1, domain 1, sequence variant 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQ33-F1 | 69.74 | 0.31 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Transcription factors, Basic domains
Protein evidence: Evidence at protein level
Antibody reliability (HPA): IH uncertain
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 82 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SALIVARY_GLAND_DEVELOPMENT, GOBP_GROWTH, GOBP_REGENERATION, NFKB_Q6, NFKB_C, GOBP_EXOCRINE_SYSTEM_DEVELOPMENT, OCT1_06, GOBP_TISSUE_REGENERATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, IK3_01, OCT1_B, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOBP_HOMEOSTATIC_PROCESS
GO Biological Process (9): tissue homeostasis (GO:0001894), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), salivary gland development (GO:0007431), positive regulation of transcription by RNA polymerase II (GO:0045944), sensory epithelium regeneration (GO:0070654), negative regulation of transcription by RNA polymerase II (GO:0000122), animal organ development (GO:0048513), epithelium development (GO:0060429)
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), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), protein dimerization activity (GO:0046983), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), RNA polymerase II transcription regulator complex (GO:0090575), nucleus (GO:0005634), transcription regulator complex (GO:0005667)
GO top-level categories
30 GO namespaces:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 3 |
| regulation of transcription by RNA polymerase II | 3 |
| animal gross anatomical part developmental process | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| multicellular organismal-level homeostasis | 1 |
| anatomical structure homeostasis | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| exocrine system development | 1 |
| gland development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| epithelium regeneration | 1 |
| negative regulation of DNA-templated transcription | 1 |
| tissue development | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
showing 15 of 398 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ASCL3 | FOXI1 | Q12951 | 713 |
| ASCL3 | ACSL3 | O95573 | 592 |
| ASCL3 | CFTR | P13569 | 577 |
| ASCL3 | MYOD1 | P15172 | 550 |
| ASCL3 | TRPM5 | Q9NZQ8 | 548 |
| ASCL3 | DRC12 | Q494R4 | 502 |
| ASCL3 | ACSL4 | O60488 | 454 |
| ASCL3 | KRT5 | P13647 | 446 |
| ASCL3 | COPS7A | Q9UBW8 | 441 |
| ASCL3 | LYPD2 | Q6UXB3 | 423 |
| ASCL3 | CFAP263 | Q9H0I3 | 422 |
| ASCL3 | AQP5 | P55064 | 386 |
| ASCL3 | BSCL2 | Q96G97 | 370 |
| ASCL3 | BANP | Q8N9N5 | 370 |
| ASCL3 | GPAT4 | Q86UL3 | 370 |
IntAct
Human interaction partners of ASCL3 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
6 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| TCF4 | physical association | 0.560 | 4 |
| HEMK1 | physical association | 0.560 | 3 |
| ID1 | physical association | 0.560 | 3 |
| TCF12 | physical association | 0.560 | 3 |
| TCF3 | physical association | 0.560 | 3 |
| VPS37C | physical association | 0.560 | 3 |
BioGRID (19 interactions; top human partners by supporting records): TCF4 (Two-hybrid; 3 records), TCF12 (Two-hybrid; 2 records), TCF3 (Two-hybrid; 2 records), ADIPOR2 (Affinity Capture-MS), APP (Reconstituted Complex), C2orf49 (Affinity Capture-MS), HEMK1 (Two-hybrid), ID1 (Two-hybrid), ID4 (Affinity Capture-MS), SPPL3 (Positive Genetic), VPS37C (Two-hybrid)
Disease & clinical
Genetic variants
Variant evidence for ASCL3: 39 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.
ClinVar
39 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 2 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 17 predictions of 62):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 11:8942984–8942985 | donor_loss | 0.9900 | 3 |
| 11:8942985 | donor_loss | 0.9800 | |
| 11:8938174–8938175 | acceptor_loss | 0.9700 | 6 |
| 11:8942985 | donor_loss | 0.9700 | |
| 11:8937932 | acceptor_gain | 0.9500 | |
| 11:8938176 | acceptor_loss | 0.9200 | |
| 11:8938182 | acceptor_loss | 0.9200 | |
| 11:8941290 | acceptor_gain | 0.8100 | |
| 11:8938182 | acceptor_loss | 0.7300 | |
| 11:8941234 | donor_gain | 0.7000 |
HPA cancer prognostics
RNA cancer specificity: Group enriched (Bladder Urothelial Carcinoma, Kidney Chromophobe)
Disease associations
OMIM: gene MIM:609154 | disease phenotypes:
GWAS associations
4 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST005953_4 | Body mass index (age <50) | 4e-11 |
| GCST005950_10 | Body mass index x sex x age interaction (4df test) | 6e-11 |
| GCST005951_61 | Body mass index | 8e-11 |
| GCST010703_321 | Brain morphology (MOSTest) | 5e-9 |
EFO canonical traits (from GWAS)
4 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (CPIC guideline: no)
CTD chemical–gene interactions
6 total (human), top 6 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Coal | increases abundance, increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 300 trials:
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00117546 | Phase 4 | UNKNOWN | Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia |
| NCT00567957 | Phase 4 | UNKNOWN | Remifentanil for General Anesthesia in Preeclamptics |
| NCT01030627 | Phase 4 | COMPLETED | Treatment Approaches to Preeclampsia |
| NCT01352234 | Phase 4 | COMPLETED | Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia |
| NCT01361425 | Phase 4 | UNKNOWN | Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) |
| NCT01729468 | Phase 4 | COMPLETED | Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers |
| NCT01761916 | Phase 4 | COMPLETED | Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure |
| NCT01912677 | Phase 4 | COMPLETED | Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy |
| NCT02025426 | Phase 4 | TERMINATED | Phenylephrine Versus Ephedrine in Pre-eclampsia |
| NCT02091401 | Phase 4 | COMPLETED | A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen |
| NCT02163655 | Phase 4 | COMPLETED | Diuretics for Postpartum High Blood Pressure in Preeclampsia |
| NCT02338687 | Phase 4 | COMPLETED | Low Dose Calcium to Prevent Preeclampsia |
| NCT02396030 | Phase 4 | TERMINATED | Different Schemes of Magnesium Sulfate for Preeclampsia |
| NCT02531490 | Phase 4 | UNKNOWN | Early Vascular Adjustments During Hypertensive Pregnancy |
| NCT02699827 | Phase 4 | COMPLETED | Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia |
| NCT02835339 | Phase 4 | COMPLETED | Magnesium Sulfate in Obese Preeclamptics |
| NCT02891174 | Phase 4 | COMPLETED | The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy |
| NCT02911701 | Phase 4 | COMPLETED | Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features |
| NCT03171480 | Phase 4 | COMPLETED | Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia |
| NCT03233880 | Phase 4 | UNKNOWN | Impact of Antichlamydial Treatment on the Rate of Preeclampsia |
| NCT03237000 | Phase 4 | UNKNOWN | Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients |
| NCT03506724 | Phase 4 | COMPLETED | Response to Anti-hypertensives in Pregnant and Postpartum Patients |
| NCT03674606 | Phase 4 | COMPLETED | Trial of Early Screening Test for Pre-eclampsia and Growth Restriction |
| NCT03735433 | Phase 4 | TERMINATED | The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia |
| NCT03824119 | Phase 4 | UNKNOWN | Postpartum NSAIDS and Maternal Hypertension |
| NCT04051567 | Phase 4 | UNKNOWN | Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies |
| NCT04077853 | Phase 4 | COMPLETED | Progesterone in Expectantly Managed Early-onset Preeclampsia |
| NCT04158830 | Phase 4 | WITHDRAWN | Aspirin (ASA) Therapy and Preeclampsia Prevention |
| NCT04424693 | Phase 4 | UNKNOWN | Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36 |
| NCT04631627 | Phase 4 | UNKNOWN | Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort |
| NCT04656665 | Phase 4 | UNKNOWN | The Effectiveness of Aspirin on Preventing Pre-eclampsia |
| NCT04797949 | Phase 4 | WITHDRAWN | Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia |
| NCT04908982 | Phase 4 | UNKNOWN | Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension |
| NCT05221164 | Phase 4 | UNKNOWN | 162 mg of Aspirin for Prevention of Preeclampsia |
| NCT05294952 | Phase 4 | UNKNOWN | co Ihibtory Receptor in Preeclampsia |
| NCT05514847 | Phase 4 | ACTIVE_NOT_RECRUITING | Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients |
| NCT05586373 | Phase 4 | COMPLETED | Ibuprofen vs Dipyrone After C-section in Preeclampsia |
| NCT06069102 | Phase 4 | COMPLETED | Optimal Blood Pressure Treatment Thresholds Postpartum |
| NCT06107335 | Phase 4 | NOT_YET_RECRUITING | Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia |
| NCT06281665 | Phase 4 | RECRUITING | Treatment With Aspirin After Preeclampsia: TAP Trial |
| NCT06359015 | Phase 4 | TERMINATED | Metformin and Esomeprazole in Preterm Pre-eclampsia |
| NCT06468202 | Phase 4 | RECRUITING | Effectiveness of Two Aspirin Doses for Prevention of Hypertensive Disorders of Pregnancy: ASPIRIN TRIAL |
| NCT06632379 | Phase 4 | RECRUITING | AtorvaStatin Postpartum and Reduction of Cardiovascular risK |
| NCT06785116 | Phase 4 | RECRUITING | A Randomized, Placebo-controlled Trial of DAPAgliflozin (DAPA) for Cardiovascular Risk Reduction in the Postpartum Period of Hypertensive Pregnancies (HP) |
| NCT07167862 | Phase 4 | NOT_YET_RECRUITING | Optimizing Preeclampsia Postpartum With Point-of-care Ultrasound |
| NCT07288801 | Phase 4 | RECRUITING | Vitamin D for Preventing Recurrent Preeclampsia in Pregnant Women |
| NCT07293728 | Phase 4 | NOT_YET_RECRUITING | A Randomized Feasibility Trial Comparing Drospirenone and Norethindrone for Postpartum Hypertension Management in Preeclampsia |
| NCT07361679 | Phase 4 | RECRUITING | LDA and LMWH vs LDA Alone in High-risk Patients for Preeclampsia Prevention |
| NCT07448597 | Phase 4 | RECRUITING | Progesterone Preeclampsia |
| NCT07510568 | Phase 4 | NOT_YET_RECRUITING | Vitamin D Supplementation Among Pregnant Women in Uganda for the Prevention of Hypertensive Disorders in Pregnancy, and Other Adverse Maternal and Foetal Outcomes |
| NCT07717931 | Phase 4 | COMPLETED | Vitamin D Therapy to Prevent Recurrent Preeclampsia in High-Risk Pregnancies |
| NCT07779057 | Phase 4 | RECRUITING | Comparison of High- Versus Low-Dose Aspirin for Pregnancy Outcomes in Women at High Risk of Preeclampsia |
| NCT07793760 | Phase 4 | NOT_YET_RECRUITING | Dexamethasone Versus Ondansetron for Preventing Post-Spinal Hypotension in Preeclampsia |
| NCT00000534 | Phase 3 | COMPLETED | Calcium for Pre-Eclampsia Prevention (CPEP) |
| NCT00097110 | Phase 3 | COMPLETED | RCT of Antioxidant Therapy to Prevent Preeclampsia in Brazil |
| NCT00135707 | Phase 3 | COMPLETED | Combined Antioxidant and Preeclampsia Prediction Studies (CAPPS) |
| NCT00157521 | Phase 3 | COMPLETED | L-Arginine in Pre-Eclampsia |
| NCT00197340 | Phase 3 | COMPLETED | Antepartum Chronic Epidural Therapy (ACET) to Improve Blood Flow to the Uterus, Placenta and Baby in Pre-Eclampsia and Intrauterine Growth Restriction |
| NCT00300937 | Phase 3 | COMPLETED | Coenzyme Q10 Supplementation and Development of Preeclampsia |
| NCT00848679 | Phase 3 | WITHDRAWN | Investigating the Novel Observation of Right-left Difference in Uterine Artery Vascular Resistance in Pre-eclampsia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): preeclampsia