DAND5
gene geneOn this page
Also known as FLJ38607CKTSF1B3DANTEGREM3CER2DTECoco
Summary
DAND5 (DAN domain BMP antagonist family member 5, HGNC:26780) is a protein-coding gene on chromosome 19p13.13, encoding DAN domain family member 5 (Q8N907). Antagonist of the extracellular signaling protein NODAL, which is required for correct left-right patterning during embryonic development.
This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry.
Source: NCBI Gene 199699 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital heart disease (Disputed, ClinGen)
- GWAS associations: 4
- Clinical variants (ClinVar): 31 total
- MANE Select transcript:
NM_152654
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26780 |
| Approved symbol | DAND5 |
| Name | DAN domain BMP antagonist family member 5 |
| Location | 19p13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE, Coco |
| Ensembl gene | ENSG00000179284 |
| Ensembl biotype | protein_coding |
| OMIM | 609068 |
| Entrez | 199699 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000317060, ENST00000585548, ENST00000873880
RefSeq mRNA: 1 — MANE Select: NM_152654
NM_152654
CCDS: CCDS12291
Canonical transcript exons
ENST00000317060 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001256536 | 12973389 | 12974760 |
| ENSE00002943658 | 12969576 | 12969984 |
Expression profiles
Bgee: expression breadth broad, 99 present calls, max score 92.58.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0928 / max 21.4340, expressed in 34 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174075 | 0.0509 | 20 |
| 174074 | 0.0420 | 18 |
Top tissues by expression
213 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 92.58 | gold quality |
| oocyte | CL:0000023 | 89.01 | gold quality |
| secondary oocyte | CL:0000655 | 83.64 | gold quality |
| endothelial cell | CL:0000115 | 82.27 | gold quality |
| apex of heart | UBERON:0002098 | 79.71 | gold quality |
| heart left ventricle | UBERON:0002084 | 75.70 | gold quality |
| cardiac ventricle | UBERON:0002082 | 75.44 | gold quality |
| right atrium auricular region | UBERON:0006631 | 74.75 | gold quality |
| cardiac atrium | UBERON:0002081 | 74.45 | gold quality |
| heart | UBERON:0000948 | 70.70 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 63.76 | gold quality |
| right adrenal gland | UBERON:0001233 | 62.15 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 61.74 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 60.21 | gold quality |
| myocardium | UBERON:0002349 | 59.54 | gold quality |
| left adrenal gland | UBERON:0001234 | 58.55 | gold quality |
| vastus lateralis | UBERON:0001379 | 58.00 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 57.73 | gold quality |
| adrenal cortex | UBERON:0001235 | 57.67 | gold quality |
| quadriceps femoris | UBERON:0001377 | 57.60 | gold quality |
| parotid gland | UBERON:0001831 | 57.42 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 56.62 | gold quality |
| vena cava | UBERON:0004087 | 56.37 | gold quality |
| adrenal gland | UBERON:0002369 | 55.72 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 55.05 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 54.77 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 53.35 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 53.30 | gold quality |
| oviduct epithelium | UBERON:0004804 | 52.98 | silver quality |
| lower lobe of lung | UBERON:0008949 | 52.89 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting DAND5, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-508-5P | 99.41 | 64.25 | 1248 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-4763-5P | 98.75 | 63.89 | 854 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-6830-3P | 98.62 | 68.07 | 1760 |
| HSA-MIR-6755-3P | 98.61 | 66.90 | 834 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-6732-3P | 98.17 | 67.52 | 802 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
| HSA-MIR-8089 | 97.74 | 66.21 | 1698 |
Literature-anchored findings (GeneRIF, showing 6)
- A gain-of-function cDNA screen reveals that Coco, a secreted antagonist of TGF-beta ligands, induces dormant breast cancer cells to undergo reactivation in the lung. (PMID:22901808)
- High DAND5 expression is associated with tumor growth and angiogenesis in breast cancer. (PMID:26908452)
- In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy (PMID:28738792)
- Coco may be a player in the bone morphogenetic protein dysregulation and the tissue repair failure in multiple sclerosis (PMID:30685069)
- Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5. (PMID:31869685)
- A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome. (PMID:36316122)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dand5 | ENSDARG00000036471 |
| mus_musculus | Dand5 | ENSMUSG00000053226 |
Paralogs (1): CER1 (ENSG00000147869)
Protein
Protein identifiers
DAN domain family member 5 — Q8N907 (reviewed: Q8N907)
Alternative names: Cerberus-like protein 2, Cysteine knot superfamily 1, BMP antagonist 3, Gremlin-3
All UniProt accessions (2): Q8N907, K7EQF6
UniProt curated annotations — full annotation on UniProt →
Function. Antagonist of the extracellular signaling protein NODAL, which is required for correct left-right patterning during embryonic development. Antagonist of BMP and TGF-beta signaling. Independently of its role in left-right axis establishment, plays a role during heart development, possibly through the regulation of TGF-beta/Nodal signaling pathway. Displays anti-angiogenic activity by inhibiting endothelial sprouting, migration, and proliferation. Once internalized by endothelial cells, may alter their redox and glycolytic balance.
Subcellular location. Secreted.
Tissue specificity. Expressed in the retina, in inner segments of photoreceptors, at or close to the outer plexiform layer and in the ganglion cell layer (at protein level).
Disease relevance. Heterotaxy, visceral, 13, autosomal (HTX13) [MIM:621079] A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX13 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.
Induction. Down-regulation during the establishment of embryonic left-right axis could be due to translation repression, involving BICC1 and possibly DICER1, and/or transcript degradation, involving BICC1 and the CCR4-NOT complex. Attenuated DAND5 expression lifts repression of NODAL and defines leftness by induction of the left lateral plate mesoderm NODAL signaling cascade.
Similarity. Belongs to the DAN family.
RefSeq proteins (1): NP_689867* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004133 | DAN_dom | Domain |
| IPR016860 | Cerberus | Family |
| IPR029034 | Cystine-knot_cytokine | Homologous_superfamily |
Pfam: PF03045
UniProt features (8 total): disulfide bond 4, signal peptide 1, chain 1, domain 1, glycosylation site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N907-F1 | 70.04 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 101–148, 115–162, 125–183, 129–185
Glycosylation sites (1): 38
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1181150 | Signaling by NODAL |
| R-HSA-1433617 | Regulation of signaling by NODAL |
MSigDB gene sets: 92 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, TERAMOTO_OPN_TARGETS_CLUSTER_6, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_LATERAL_MESODERM_DEVELOPMENT, GOBP_CARDIAC_ATRIUM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_ATRIAL_SEPTUM_DEVELOPMENT, GOBP_MAINTENANCE_OF_LOCATION, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_EXTRACELLULAR_REGULATION_OF_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY, GOBP_CARDIAC_VENTRICLE_DEVELOPMENT
GO Biological Process (14): determination of left/right asymmetry in lateral mesoderm (GO:0003140), ventricular septum development (GO:0003281), atrial septum development (GO:0003283), determination of left/right symmetry (GO:0007368), signal transduction involved in regulation of gene expression (GO:0023019), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of BMP signaling pathway (GO:0030514), obsolete sequestering of BMP in extracellular matrix (GO:0035582), nodal signaling pathway (GO:0038092), obsolete sequestering of nodal from receptor via nodal binding (GO:0038101), determination of heart left/right asymmetry (GO:0061371), negative regulation of nodal signaling pathway (GO:1900108), regulation of signal transduction (GO:0009966), regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)
GO Molecular Function (1): morphogen activity (GO:0016015)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
| Signaling by NODAL | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| determination of left/right symmetry | 2 |
| cardiac septum development | 2 |
| signal transduction | 2 |
| transforming growth factor beta receptor signaling pathway | 2 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2 |
| lateral mesoderm development | 1 |
| cardiac ventricle development | 1 |
| cardiac atrium development | 1 |
| determination of bilateral symmetry | 1 |
| left/right pattern formation | 1 |
| regulation of gene expression | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| BMP signaling pathway | 1 |
| regulation of BMP signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| activin receptor signaling pathway | 1 |
| heart development | 1 |
| negative regulation of activin receptor signaling pathway | 1 |
| nodal signaling pathway | 1 |
| regulation of nodal signaling pathway | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| regulation of cellular response to transforming growth factor beta stimulus | 1 |
| receptor ligand activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
466 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DAND5 | PKD1L1 | Q8TDX9 | 581 |
| DAND5 | GREM2 | Q9H772 | 558 |
| DAND5 | CERS6 | Q6ZMG9 | 550 |
| DAND5 | PITX2 | Q99697 | 539 |
| DAND5 | LEFTY2 | O00292 | 529 |
| DAND5 | GDF1 | P27539 | 512 |
| DAND5 | SOSTDC1 | Q6X4U4 | 478 |
| DAND5 | GALNT11 | Q8NCW6 | 477 |
| DAND5 | LEFTY1 | O75610 | 474 |
| DAND5 | FOXH1 | O75593 | 440 |
| DAND5 | PIERCE1 | Q5BN46 | 438 |
| DAND5 | SMARCA5 | O60264 | 435 |
| DAND5 | GREM1 | O60565 | 434 |
| DAND5 | CHRD | Q9H2X0 | 396 |
| DAND5 | NODAL | Q96S42 | 375 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| M | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: D3YZZ2, O00292, O43508, O54907, O55237, O75610, O75888, P09225, P0C6B2, P10154, P26445, P32970, P41155, P41273, P52798, P61125, P70225, Q06332, Q06600, Q13477, Q14626, Q3ZDR4, Q5E9Z9, Q5RF19, Q5T7M4, Q5TM20, Q5WR07, Q63148, Q64280, Q64385, Q6BAA4, Q6UWL6, Q86UR1, Q8BHA1, Q8N1F8, Q8N2A8, Q8N907, Q8NAC3, Q8NFR9, Q8R2Z0
Diamond homologs: O35793, O55233, O60565, O70326, O73754, O73755, O95813, P70041, Q07G34, Q76LW6, Q8N907, Q8WNY1, Q9PWB0, O73753, O88273, P41271, Q06880, Q61477, Q6DF53, Q6NZ13, Q90YC9, Q9H772, Q28H35, Q800X4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
229 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:12969943:G:GT | donor_gain | 0.9900 |
| 19:12969982:CAGGT:C | donor_loss | 0.9900 |
| 19:12969983:AG:A | donor_loss | 0.9900 |
| 19:12969984:GG:G | donor_loss | 0.9900 |
| 19:12969957:G:T | donor_gain | 0.9600 |
| 19:12969955:GGGA:G | donor_gain | 0.9400 |
| 19:12969987:GA:G | donor_loss | 0.9400 |
| 19:12969957:G:GT | donor_gain | 0.9300 |
| 19:12969962:G:GG | donor_gain | 0.9300 |
| 19:12969957:GATGT:G | donor_gain | 0.9100 |
| 19:12969961:T:TG | donor_gain | 0.9100 |
| 19:12969965:AGGCT:A | donor_gain | 0.9100 |
| 19:12969966:GGCTG:G | donor_gain | 0.9100 |
| 19:12969985:G:GG | donor_gain | 0.9100 |
| 19:12969960:GT:G | donor_gain | 0.9000 |
| 19:12973469:T:TA | acceptor_gain | 0.9000 |
| 19:12969943:G:T | donor_gain | 0.8800 |
| 19:12969967:G:GT | donor_gain | 0.8800 |
| 19:12971013:GATT:G | donor_gain | 0.8600 |
| 19:12969726:G:T | donor_gain | 0.8500 |
| 19:12973463:C:G | acceptor_gain | 0.8200 |
| 19:12969967:G:T | donor_gain | 0.8100 |
| 19:12973881:G:C | acceptor_gain | 0.7500 |
| 19:12973465:T:G | acceptor_gain | 0.7400 |
| 19:12969725:G:GT | donor_gain | 0.7300 |
| 19:12969676:C:G | donor_gain | 0.7100 |
| 19:12969557:TTCAG:T | donor_gain | 0.7000 |
| 19:12969944:A:T | donor_gain | 0.7000 |
| 19:12970536:GT:G | donor_gain | 0.7000 |
| 19:12973470:G:A | acceptor_gain | 0.7000 |
AlphaMissense
1188 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:12969961:T:A | C101S | 0.977 |
| 19:12969962:G:C | C101S | 0.977 |
| 19:12969976:T:C | F106L | 0.971 |
| 19:12969978:C:A | F106L | 0.971 |
| 19:12969978:C:G | F106L | 0.971 |
| 19:12973429:A:T | N122I | 0.971 |
| 19:12973437:T:A | C125S | 0.971 |
| 19:12973438:G:C | C125S | 0.971 |
| 19:12973440:T:C | F126L | 0.968 |
| 19:12973442:T:A | F126L | 0.968 |
| 19:12973442:T:G | F126L | 0.968 |
| 19:12969977:T:G | F106C | 0.967 |
| 19:12973441:T:G | F126C | 0.965 |
| 19:12973430:T:A | N122K | 0.961 |
| 19:12973430:T:G | N122K | 0.961 |
| 19:12973407:T:A | C115S | 0.959 |
| 19:12973408:G:C | C115S | 0.959 |
| 19:12969847:T:C | F63L | 0.955 |
| 19:12969849:C:A | F63L | 0.955 |
| 19:12969849:C:G | F63L | 0.955 |
| 19:12973444:G:T | G127V | 0.954 |
| 19:12973611:T:A | C183S | 0.954 |
| 19:12973612:G:C | C183S | 0.954 |
| 19:12973443:G:T | G127C | 0.953 |
| 19:12973449:T:A | C129S | 0.948 |
| 19:12973450:G:C | C129S | 0.948 |
| 19:12969962:G:A | C101Y | 0.946 |
| 19:12973437:T:C | C125R | 0.946 |
| 19:12969840:G:C | W60C | 0.945 |
| 19:12969840:G:T | W60C | 0.945 |
dbSNP variants (sampled 300 via entrez): RS1000082370 (19:12972676 G>T), RS1000851120 (19:12970971 C>A,T), RS1001918994 (19:12973988 G>A,T), RS1002371729 (19:12970657 CTTTCCTTT>C), RS1003076646 (19:12971871 G>A,T), RS1003198219 (19:12973943 A>G), RS1003326605 (19:12971833 C>A), RS1003436789 (19:12974053 A>G), RS1003488342 (19:12974986 C>G,T), RS1004702396 (19:12972825 G>C), RS1004885657 (19:12968575 A>G), RS1005197294 (19:12969833 G>A), RS1006201383 (19:12968039 C>T), RS1006255287 (19:12968325 C>T), RS1006426980 (19:12973329 T>C)
Disease associations
OMIM: gene MIM:609068 | disease phenotypes: MIM:621079
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Disputed Evidence | Unknown |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Disputed | UD |
Mondo (2): heterotaxy, visceral, 13, autosomal (MONDO:0976134), congenital heart disease (MONDO:0005453)
Orphanet (1): Situs ambiguus (Orphanet:157769)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002595_9 | Clozapine-induced agranulocytosis | 1.000000e-06 |
| GCST007923_12 | Medication use (drugs used in diabetes) | 4.000000e-08 |
| GCST010703_320 | Brain morphology (MOSTest) | 2.000000e-21 |
| GCST90002390_528 | Mean corpuscular hemoglobin | 4.000000e-15 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009924 | Drugs used in diabetes use measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
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
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| testosterone-3-carboxymethyloxime-bovine serum albumin conjugate | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | decreases methylation | 1 |
| Benzo(a)pyrene | increases methylation, decreases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Naphthoquinones | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| S-Nitrosoglutathione | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_QY85 | NMSUNLi001-A | Induced pluripotent stem cell | Male |
| CVCL_YM55 | NMSUNLi001-A-1 | Induced pluripotent stem cell | 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, heterotaxy, visceral, 13, autosomal