MESP1
gene geneOn this page
Also known as MGC10676bHLHc5
Summary
MESP1 (mesoderm posterior bHLH transcription factor 1, HGNC:29658) is a protein-coding gene on chromosome 15q26.1, encoding Mesoderm posterior protein 1 (Q9BRJ9). Transcription factor.
Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in myocardial infarction. Biomarker of diabetic retinopathy.
Source: NCBI Gene 55897 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital heart disease (Moderate, ClinGen)
- GWAS associations: 1
- Clinical variants (ClinVar): 70 total
- MANE Select transcript:
NM_018670
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29658 |
| Approved symbol | MESP1 |
| Name | mesoderm posterior bHLH transcription factor 1 |
| Location | 15q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC10676, bHLHc5 |
| Ensembl gene | ENSG00000166823 |
| Ensembl biotype | protein_coding |
| OMIM | 608689 |
| Entrez | 55897 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000300057, ENST00000559894
RefSeq mRNA: 1 — MANE Select: NM_018670
NM_018670
CCDS: CCDS10355
Canonical transcript exons
ENST00000300057 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001106967 | 89749875 | 89750227 |
| ENSE00001183307 | 89750509 | 89751249 |
Expression profiles
Bgee: expression breadth ubiquitous, 187 present calls, max score 89.14.
FANTOM5 (CAGE): breadth broad, TPM avg 1.7350 / max 72.3035, expressed in 593 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151479 | 0.7726 | 342 |
| 151480 | 0.5429 | 271 |
| 151481 | 0.2000 | 45 |
| 151478 | 0.1960 | 80 |
| 151482 | 0.0235 | 11 |
Top tissues by expression
236 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 89.14 | gold quality |
| oocyte | CL:0000023 | 86.81 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.46 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 86.08 | silver quality |
| secondary oocyte | CL:0000655 | 85.79 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.61 | gold quality |
| amygdala | UBERON:0001876 | 83.99 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 83.62 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 83.23 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.70 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 82.46 | gold quality |
| frontal cortex | UBERON:0001870 | 82.35 | gold quality |
| neocortex | UBERON:0001950 | 81.99 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 81.99 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.95 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.79 | gold quality |
| prostate gland | UBERON:0002367 | 81.45 | gold quality |
| temporal lobe | UBERON:0001871 | 81.32 | gold quality |
| hypothalamus | UBERON:0001898 | 81.28 | gold quality |
| kidney epithelium | UBERON:0004819 | 81.27 | gold quality |
| muscle of leg | UBERON:0001383 | 80.95 | gold quality |
| cerebral cortex | UBERON:0000956 | 80.89 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 80.71 | silver quality |
| heart right ventricle | UBERON:0002080 | 80.42 | gold quality |
| adipose tissue | UBERON:0001013 | 80.34 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 79.99 | gold quality |
| Ammon’s horn | UBERON:0001954 | 79.95 | gold quality |
| cerebellar vermis | UBERON:0004720 | 79.66 | silver quality |
| telencephalon | UBERON:0001893 | 79.24 | gold quality |
| nucleus accumbens | UBERON:0001882 | 79.10 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 203.95 |
| E-ANND-3 | no | 2.48 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| DKK1 | Activation |
Upstream regulators (CollecTRI, top): CTNNB1, LEF1, POU5F1
miRNA regulators (miRDB)
10 targeting MESP1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-4712-5P | 97.24 | 67.79 | 775 |
| HSA-MIR-770-5P | 97.24 | 68.10 | 758 |
| HSA-MIR-346 | 97.01 | 66.97 | 662 |
Literature-anchored findings (GeneRIF, showing 10)
- MesP1 drives vertebrate cardiovascular differentiation through Dkk-1-mediated blockade of Wnt-signalling (PMID:18297060)
- Transcription factors ETS2 and MESP1 transdifferentiate human dermal fibroblasts into cardiac progenitors. (PMID:22826236)
- MESP1 SNPs are associated with congenital heart disease in patients and altered transcription in vitro. (PMID:24056064)
- The MESP1-NKX2-5 hESC reporter line allows us to identify molecular cues crucial for specification and expansion of human cardiac mesoderm and early progenitors and their differentiation to specific cardiovascular derivatives. (PMID:25187301)
- results suggest that pathologic variants in MESP1 may contribute to the development of congenital heart disease (CHD) and that additional protein partners and downstream targets could likewise contribute to the wide range of causes for CHD (PMID:26694203)
- The present study firstly provided experimental evidence supporting the concept that a MESP1 lossoffunction mutation may contribute to the development of double outlet right ventricle in humans, which presents a significant insight into the molecular pathogenesis of congenital heart disease. (PMID:28677747)
- Study demonstrates that while leaving primitive streak markers unaffected, MESP1 expression is required for timely vascular progenitor specification. Thus, MESP1 expression is essential for the molecular features of early CM, EC and VSMC lineage specification. (PMID:30389344)
- we demonstrate that upregulation of MESP1, a key tumor-promoting alteration, functions to create tumor dependency on an inbuilt lineage-survival process. MESP1, being the nodal point of this survival process, sustains the tumor dependency by transcriptionally activating key genes involved in tumor cell initiation, proliferation and progression including EMT (PMID:31761621)
- Essential role of MESP1-RING1A complex in cardiac differentiation. (PMID:36413948)
- MESP1-knockdown inhibits the proliferation and epithelial mesenchymal transition of hepatocellular carcinoma and enhances the tumor-suppressive effect of 5-fluorouracil. (PMID:37271034)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mespaa | ENSDARG00000017078 |
| danio_rerio | mespba | ENSDARG00000030347 |
| danio_rerio | mespab | ENSDARG00000068761 |
| danio_rerio | mespbb | ENSDARG00000097947 |
| mus_musculus | Mesp1 | ENSMUSG00000030544 |
| rattus_norvegicus | Mesp1 | ENSRNOG00000014951 |
| drosophila_melanogaster | sage | FBGN0037672 |
Paralogs (2): MSGN1 (ENSG00000151379), MESP2 (ENSG00000188095)
Protein
Protein identifiers
Mesoderm posterior protein 1 — Q9BRJ9 (reviewed: Q9BRJ9)
Alternative names: Class C basic helix-loop-helix protein 5
All UniProt accessions (1): Q9BRJ9
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways.
Subcellular location. Nucleus.
Miscellaneous. The N- and C-terminal domains are separated by a 2-repeat G-Q region.
RefSeq proteins (1): NP_061140* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR040259 | Mesogenin/MesP | Family |
Pfam: PF00010
UniProt features (11 total): repeat 2, region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1, short sequence motif 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRJ9-F1 | 62.31 | 0.20 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9733709 | Cardiogenesis |
| R-HSA-1266738 | Developmental Biology |
MSigDB gene sets: 196 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GCACCTT_MIR18A_MIR18B, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CELL_MIGRATION_INVOLVED_IN_HEART_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXIS_SPECIFICATION, GOBP_CORONARY_VASCULATURE_DEVELOPMENT, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_EMBRYONIC_AXIS_SPECIFICATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER
GO Biological Process (36): mesoderm formation (GO:0001707), heart looping (GO:0001947), heart morphogenesis (GO:0003007), heart induction (GO:0003129), secondary heart field specification (GO:0003139), embryonic heart tube morphogenesis (GO:0003143), cardiac atrium formation (GO:0003210), cardiac ventricle formation (GO:0003211), sinus venosus morphogenesis (GO:0003236), growth involved in heart morphogenesis (GO:0003241), cardioblast anterior-lateral migration (GO:0003259), regulation of transcription by RNA polymerase II (GO:0006357), Notch signaling pathway (GO:0007219), gastrulation (GO:0007369), mesodermal cell migration (GO:0008078), gene expression (GO:0010467), neurogenesis (GO:0022008), signal transduction involved in regulation of gene expression (GO:0023019), somite rostral/caudal axis specification (GO:0032525), negative regulation of mesodermal cell fate specification (GO:0042662), negative regulation of endodermal cell fate specification (GO:0042664), endothelial cell differentiation (GO:0045446), positive regulation of Notch signaling pathway (GO:0045747), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), lateral mesoderm development (GO:0048368), positive regulation of striated muscle cell differentiation (GO:0051155), cardiac muscle cell differentiation (GO:0055007), cardiac cell fate determination (GO:0060913), sinoatrial node cell differentiation (GO:0060921), cardiac vascular smooth muscle cell differentiation (GO:0060947), cardioblast migration to the midline involved in heart field formation (GO:0060975), positive regulation of hepatocyte differentiation (GO:0070368), negative regulation of canonical Wnt signaling pathway (GO:0090090), cardioblast migration (GO:0003260)
GO Molecular Function (10): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), protein dimerization activity (GO:0046983), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific double-stranded DNA binding (GO:1990837)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| heart field specification | 2 |
| heart morphogenesis | 2 |
| embryonic morphogenesis | 2 |
| cardiac chamber formation | 2 |
| regulation of DNA-templated transcription | 2 |
| transcription cis-regulatory region binding | 2 |
| formation of primary germ layer | 1 |
| mesoderm morphogenesis | 1 |
| embryonic heart tube morphogenesis | 1 |
| determination of heart left/right asymmetry | 1 |
| heart development | 1 |
| animal organ morphogenesis | 1 |
| organ induction | 1 |
| regulation of heart morphogenesis | 1 |
| embryonic heart tube development | 1 |
| embryonic organ morphogenesis | 1 |
| epithelial tube morphogenesis | 1 |
| cardiac atrium morphogenesis | 1 |
| cardiac ventricle morphogenesis | 1 |
| cardiac chamber morphogenesis | 1 |
| sinus venosus development | 1 |
| heart growth | 1 |
| developmental growth involved in morphogenesis | 1 |
| cardioblast migration | 1 |
| transcription by RNA polymerase II | 1 |
| cell surface receptor signaling pathway | 1 |
| ectoderm formation | 1 |
| endoderm formation | 1 |
| mesoderm formation | 1 |
| ameboidal-type cell migration | 1 |
| macromolecule biosynthetic process | 1 |
| nervous system development | 1 |
| cell differentiation | 1 |
| signal transduction | 1 |
| regulation of gene expression | 1 |
| embryonic axis specification | 1 |
| somitogenesis | 1 |
| anterior/posterior axis specification | 1 |
| mesodermal cell fate specification | 1 |
Protein interactions and networks
STRING
498 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MESP1 | SOX17 | Q9H6I2 | 802 |
| MESP1 | NKX2-5 | P52952 | 779 |
| MESP1 | GATA4 | P43694 | 748 |
| MESP1 | MEF2C | Q06413 | 709 |
| MESP1 | HAND2 | P61296 | 701 |
| MESP1 | FOXC2 | Q99958 | 667 |
| MESP1 | FOXC1 | Q12948 | 630 |
| MESP1 | TBX5 | Q99593 | 629 |
| MESP1 | MIXL1 | Q9H2W2 | 614 |
| MESP1 | DLL1 | O00548 | 597 |
| MESP1 | FOXA2 | Q9Y261 | 595 |
| MESP1 | LFNG | Q8NES3 | 589 |
| MESP1 | EFNB2 | P52799 | 564 |
| MESP1 | FOXQ1 | Q9C009 | 560 |
| MESP1 | ISL1 | P20663 | 556 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MESP1 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF3 | MESP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (12): RING1 (Two-hybrid), TCF3 (Two-hybrid), ZIC3 (Two-hybrid), RING1 (Affinity Capture-Western), TCF3 (Affinity Capture-Western), MESP1 (Co-localization), EP300 (Affinity Capture-Western), PHC1 (Affinity Capture-Western), SMC1A (Affinity Capture-Western), SMC3 (Affinity Capture-Western), RAD21 (Affinity Capture-Western), CTCF (Affinity Capture-Western)
ESM2 similar proteins: A0A8I5KY20, A4IHR5, A6H7J1, A7UKY7, B7Z1M9, C9JLR9, E1BDF2, F5GYI3, G3V9M2, P0CG09, P0CG25, Q01101, Q0IIA6, Q0PHV7, Q13387, Q2TAM9, Q32KV8, Q4VA45, Q52KG4, Q5U4P2, Q63ZV0, Q673H1, Q69YZ2, Q6P6N5, Q6PAJ3, Q6PJ61, Q7L591, Q7Z6J2, Q86SH2, Q86UD0, Q8BNN1, Q8IUW3, Q8IYG6, Q8N554, Q8NBR0, Q8R4T5, Q8TF61, Q96C00, Q96G42, Q96IQ9
Diamond homologs: A6NI15, O08574, O09105, O42202, P41894, P46581, P48986, P79765, P79766, P79920, P97309, Q08DI0, Q0VG99, Q13562, Q28C89, Q4R5G6, Q60430, Q60867, Q64289, Q90ZL1, Q91616, Q96NK8, Q9BRJ9, Q9DEQ9, Q9HD90, Q9JK54, Q9W690, Q9W6C7, Q9Y4Z2, A8E5T6, O35437, O43680, O60682, O88940, P79782, Q10574, Q20561, Q32PV5, Q5E9S3, Q6GNB7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
141 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:89750798:T:A | donor_gain | 0.9800 |
| 15:89750692:AG:A | donor_gain | 0.9700 |
| 15:89750764:G:GC | donor_gain | 0.9300 |
| 15:89750700:T:TA | donor_gain | 0.9100 |
| 15:89750228:C:CC | acceptor_gain | 0.8700 |
| 15:89750225:GAGC:G | acceptor_loss | 0.8600 |
| 15:89750226:AGCTG:A | acceptor_loss | 0.8600 |
| 15:89750227:GCTGT:G | acceptor_loss | 0.8600 |
| 15:89750228:C:A | acceptor_loss | 0.8600 |
| 15:89750229:T:A | acceptor_loss | 0.8600 |
| 15:89750763:CG:C | donor_gain | 0.8400 |
| 15:89750224:GGAG:G | acceptor_gain | 0.8300 |
| 15:89750225:GAG:G | acceptor_gain | 0.7800 |
| 15:89750223:AGGAG:A | acceptor_gain | 0.7600 |
| 15:89750760:CCGCG:C | donor_gain | 0.7600 |
| 15:89750693:G:GA | donor_gain | 0.7400 |
| 15:89750769:C:CT | donor_gain | 0.7300 |
| 15:89750226:AG:A | acceptor_gain | 0.7200 |
| 15:89750768:CCGCG:C | donor_gain | 0.7200 |
| 15:89750693:G:C | donor_gain | 0.7100 |
| 15:89750765:TC:T | donor_gain | 0.7100 |
| 15:89750770:G:T | donor_gain | 0.6700 |
| 15:89750230:G:C | acceptor_gain | 0.6600 |
| 15:89750766:C:T | donor_gain | 0.6500 |
| 15:89750701:C:A | donor_gain | 0.6300 |
| 15:89750761:CGCG:C | donor_gain | 0.5900 |
| 15:89750357:G:A | donor_gain | 0.5700 |
| 15:89750352:T:A | donor_gain | 0.5600 |
| 15:89750353:C:A | donor_gain | 0.5500 |
| 15:89750500:GACAC:G | donor_loss | 0.5500 |
AlphaMissense
1682 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:89750866:C:A | K122N | 0.997 |
| 15:89750866:C:G | K122N | 0.997 |
| 15:89750870:G:A | T121I | 0.996 |
| 15:89750960:T:A | E91V | 0.996 |
| 15:89750947:C:A | M95I | 0.995 |
| 15:89750947:C:G | M95I | 0.995 |
| 15:89750947:C:T | M95I | 0.995 |
| 15:89750959:C:A | E91D | 0.995 |
| 15:89750959:C:G | E91D | 0.995 |
| 15:89750855:A:G | L126P | 0.991 |
| 15:89750867:T:A | K122M | 0.991 |
| 15:89750834:A:T | I133N | 0.990 |
| 15:89750846:G:T | A129D | 0.990 |
| 15:89750908:A:C | F108L | 0.990 |
| 15:89750908:A:T | F108L | 0.990 |
| 15:89750910:A:G | F108L | 0.990 |
| 15:89750948:A:G | M95T | 0.990 |
| 15:89750868:T:C | K122E | 0.989 |
| 15:89750952:G:T | R94S | 0.989 |
| 15:89750861:T:A | E124V | 0.988 |
| 15:89750838:A:C | Y132D | 0.987 |
| 15:89750838:A:G | Y132H | 0.987 |
| 15:89750849:A:G | L128P | 0.987 |
| 15:89750968:A:C | S88R | 0.987 |
| 15:89750968:A:T | S88R | 0.987 |
| 15:89750970:T:G | S88R | 0.987 |
| 15:89750918:A:G | L105P | 0.986 |
| 15:89750961:C:T | E91K | 0.986 |
| 15:89750837:T:G | Y132S | 0.984 |
| 15:89750847:C:G | A129P | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000226414 (15:89750937 C>A,T), RS1000329520 (15:89733710 A>G), RS1000489282 (15:89736682 C>G), RS1000695799 (15:89732157 G>A), RS1000788795 (15:89732499 A>C), RS1000898542 (15:89742076 C>T), RS1000903175 (15:89737896 C>A), RS1001057463 (15:89743720 A>C), RS1001302682 (15:89742174 G>A,C), RS1001356809 (15:89748914 C>A), RS1001375574 (15:89748060 C>G,T), RS1001476113 (15:89747841 G>A,C,T), RS1001624918 (15:89752576 T>A), RS1001846126 (15:89742435 A>G), RS1002008858 (15:89752199 G>A,C)
Disease associations
OMIM: gene MIM:608689 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Moderate | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Moderate | AD |
Mondo (1): congenital heart disease (MONDO:0005453)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010796_4586 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
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: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, affects methylation, decreases expression | 2 |
| Cadmium | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Diosgenin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Lead | affects expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Niclosamide | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | increases expression | 1 |
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