ETV2
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Also known as ER71
Summary
ETV2 (ETS variant transcription factor 2, HGNC:3491) is a protein-coding gene on chromosome 19q13.12, encoding ETS translocation variant 2 (O00321). Binds to DNA sequences containing the consensus pentanucleotide 5’-CGGA[AT]-3'.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule biosynthetic process. Predicted to be active in nucleus. Implicated in limb ischemia.
Source: NCBI Gene 2116 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital heart disease (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 61 total — 2 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_014209
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3491 |
| Approved symbol | ETV2 |
| Name | ETS variant transcription factor 2 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ER71 |
| Ensembl gene | ENSG00000105672 |
| Ensembl biotype | protein_coding |
| OMIM | 609358 |
| Entrez | 2116 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000379023, ENST00000379026, ENST00000402764, ENST00000403402, ENST00000479824, ENST00000591135
RefSeq mRNA: 3 — MANE Select: NM_014209
NM_001300974, NM_001304549, NM_014209
CCDS: CCDS32995, CCDS74341, CCDS77281
Canonical transcript exons
ENST00000402764 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001479545 | 35641745 | 35642156 |
| ENSE00002801373 | 35644652 | 35644871 |
| ENSE00002865310 | 35644235 | 35644347 |
| ENSE00003508542 | 35642965 | 35643045 |
| ENSE00003629362 | 35642615 | 35642698 |
| ENSE00003891325 | 35642434 | 35642530 |
| ENSE00003892535 | 35643274 | 35643753 |
Expression profiles
Bgee: expression breadth ubiquitous, 160 present calls, max score 81.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.3258 / max 75.7823, expressed in 1321 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175360 | 2.0569 | 1242 |
| 175359 | 0.2689 | 92 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 81.19 | gold quality |
| right testis | UBERON:0004534 | 80.29 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.15 | gold quality |
| testis | UBERON:0000473 | 77.98 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.55 | gold quality |
| stromal cell of endometrium | CL:0002255 | 70.83 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 70.81 | gold quality |
| granulocyte | CL:0000094 | 68.88 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 68.74 | gold quality |
| right lobe of liver | UBERON:0001114 | 68.67 | gold quality |
| esophagus mucosa | UBERON:0002469 | 68.46 | gold quality |
| skin of abdomen | UBERON:0001416 | 67.58 | gold quality |
| body of pancreas | UBERON:0001150 | 67.52 | gold quality |
| skin of leg | UBERON:0001511 | 67.48 | gold quality |
| right adrenal gland | UBERON:0001233 | 66.78 | gold quality |
| left adrenal gland | UBERON:0001234 | 66.45 | gold quality |
| sperm | CL:0000019 | 66.38 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 66.11 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 65.38 | gold quality |
| zone of skin | UBERON:0000014 | 65.37 | gold quality |
| male germ cell | CL:0000015 | 65.17 | silver quality |
| cortical plate | UBERON:0005343 | 65.14 | gold quality |
| adrenal cortex | UBERON:0001235 | 64.44 | gold quality |
| cervix epithelium | UBERON:0004801 | 64.30 | gold quality |
| ectocervix | UBERON:0012249 | 64.29 | gold quality |
| uterine cervix | UBERON:0000002 | 63.13 | gold quality |
| body of stomach | UBERON:0001161 | 62.90 | gold quality |
| endocervix | UBERON:0000458 | 62.78 | gold quality |
| esophagus | UBERON:0001043 | 62.75 | gold quality |
| transverse colon | UBERON:0001157 | 62.59 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.92 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
9 targets.
| Target | Regulation |
|---|---|
| ETV2 | |
| FLI1 | Activation |
| KDR | |
| LMO2 | |
| MMP1 | Activation |
| PRKACA | |
| SOX9 | Activation |
| SPI1 | Activation |
| TEK | Unknown |
Upstream regulators (CollecTRI, top): CREB1, ETV2, NKX2-5, SOX9, SP1, SRY, TAL1
Literature-anchored findings (GeneRIF, showing 21)
- identify human Etv2/ER71 and mouse ER71 proteins as functional orthologs of Etsrp (PMID:18270322)
- ets variant 2 (ETV2) alone directly converts primary human adult skin fibroblasts into functional vascular endothelial cells. (PMID:25540418)
- Single-factor ETV2 transduction successfully reprogrammed dermal fibroblasts into functional EPCs. (PMID:27488544)
- ETV2 alone can directly reprogram postnatal cells to functional, mature endothelial cells. (PMID:28003219)
- REVIEW. the interplay among the ETS transcription factor ETV2, vascular endothelial growth factor, and its receptor VEGFR2/FLK1 is essential for hematopoietic and vascular development. Emerging studies also support the role of these three factors and possible interplay in hematopoietic and vascular regeneration. (PMID:28026128)
- ETS transcription factor Etv2, a critical factor for haematopoietic and vascular development, is also required for haematopoietic regeneration. Etv2, which is silent in homeostatic HSCs, was transiently activated in regenerating HSPCs and was required for the HSC expansion and regeneration following bone marrow transplantation or haematopoietic injury. (PMID:29697486)
- among the many factors wired within this complex regulatory network, ETV2, SCL and RUNX1 are the central components. All three factors are absolutely required for blood cell generation, each one controlling a precise step of specification from the mesoderm germ layer to fully functional blood progenitors (PMID:31432499)
- ETV2/ER71 Transcription Factor as a Therapeutic Vehicle for Cardiovascular Disease. (PMID:31534512)
- These findings provide insight into the novel molecular mechanisms of ETV2 function in regulating cardiovascular lineage development from mouse embryonic stem cells. (PMID:31744543)
- Robust differentiation of human pluripotent stem cells into endothelial cells via temporal modulation of ETV2 with modified mRNA. (PMID:32832668)
- FGF primes angioblast formation by inducing ETV2 and LMO2 via FGFR1/BRAF/MEK/ERK. (PMID:32910224)
- Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly. (PMID:33359164)
- Upregulation of ETV2 Expression Promotes Endothelial Differentiation of Human Dental Pulp Stem Cells. (PMID:33522307)
- Morphological characterization of Etv2 vascular explants using fractal analysis and atomic force microscopy. (PMID:34146583)
- ETV2 regulates PARP-1 binding protein to induce ER stress-mediated death in tuberin-deficient cells. (PMID:35181635)
- A 3-Gene Random Forest Model to Diagnose Non-obstructive Azoospermia Based on Transcription Factor-Related Henes. (PMID:35715550)
- ETV2 promotes osteogenic differentiation of human dental pulp stem cells through the ERK/MAPK and PI3K-Akt signaling pathways. (PMID:36195958)
- ETV2/ER71, the key factor leading the paths to vascular regeneration and angiogenic reprogramming. (PMID:36927793)
- ETV2 primes hematoendothelial gene enhancers prior to hematoendothelial fate commitment. (PMID:37330911)
- SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells. (PMID:38503291)
- BCL6B-dependent suppression of ETV2 hampers endothelial cell differentiation. (PMID:39075623)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Etv2 | ENSMUSG00000006311 |
| rattus_norvegicus | Etv2 | ENSRNOG00000024288 |
Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), ELF3 (ENSG00000163435), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Protein
Protein identifiers
ETS translocation variant 2 — O00321 (reviewed: O00321)
Alternative names: Ets-related protein 71
All UniProt accessions (4): O00321, K7ERX2, Q3KNT2, S4R454
UniProt curated annotations — full annotation on UniProt →
Function. Binds to DNA sequences containing the consensus pentanucleotide 5’-CGGA[AT]-3'.
Subcellular location. Nucleus.
Similarity. Belongs to the ETS family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O00321-1 | 1 | yes |
| O00321-2 | 2 |
RefSeq proteins (3): NP_001287903, NP_001291478, NP_055024* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178
UniProt features (6 total): sequence conflict 2, chain 1, DNA-binding region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00321-F1 | 57.35 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 110 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_REGULATION_OF_MESODERM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_ENDOTHELIUM_DEVELOPMENT
GO Biological Process (18): blastocyst development (GO:0001824), placenta development (GO:0001890), regulation of transcription by RNA polymerase II (GO:0006357), Notch signaling pathway (GO:0007219), mesodermal cell fate specification (GO:0007501), positive regulation of gene expression (GO:0010628), Wnt signaling pathway (GO:0016055), cell differentiation (GO:0030154), erythrocyte differentiation (GO:0030218), BMP signaling pathway (GO:0030509), positive regulation of endothelial cell differentiation (GO:0045603), blood vessel morphogenesis (GO:0048514), positive regulation of mesoderm development (GO:2000382), in utero embryonic development (GO:0001701), mesoderm formation (GO:0001707), regulation of DNA-templated transcription (GO:0006355), hemopoiesis (GO:0030097), positive regulation of transcription by RNA polymerase II (GO:0045944)
GO Molecular Function (7): 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), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| regulation of DNA-templated transcription | 2 |
| transcription by RNA polymerase II | 2 |
| cell surface receptor signaling pathway | 2 |
| regulation of gene expression | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| in utero embryonic development | 1 |
| anatomical structure development | 1 |
| animal organ development | 1 |
| cell fate specification | 1 |
| mesodermal cell fate commitment | 1 |
| gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| cellular developmental process | 1 |
| myeloid cell differentiation | 1 |
| erythrocyte homeostasis | 1 |
| cellular response to BMP stimulus | 1 |
| transforming growth factor beta receptor superfamily signaling pathway | 1 |
| positive regulation of epithelial cell differentiation | 1 |
| endothelial cell differentiation | 1 |
| regulation of endothelial cell differentiation | 1 |
| blood vessel development | 1 |
| tube morphogenesis | 1 |
| mesoderm development | 1 |
| positive regulation of developmental process | 1 |
| regulation of mesoderm development | 1 |
| chordate embryonic development | 1 |
| formation of primary germ layer | 1 |
| mesoderm morphogenesis | 1 |
| DNA-templated transcription | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
Protein interactions and networks
STRING
684 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ETV2 | GATA2 | P23769 | 730 |
| ETV2 | TAL1 | P17542 | 632 |
| ETV2 | LMO2 | P25791 | 604 |
| ETV2 | MMP1 | P03956 | 601 |
| ETV2 | CDH5 | P33151 | 601 |
| ETV2 | KDR | P35968 | 594 |
| ETV2 | FOXC2 | Q99958 | 546 |
| ETV2 | SOX7 | Q9BT81 | 522 |
| ETV2 | PECAM1 | P16284 | 512 |
| ETV2 | CLEC14A | Q86T13 | 500 |
| ETV2 | SOX17 | Q9H6I2 | 492 |
| ETV2 | TEK | Q02763 | 481 |
| ETV2 | NKX2-5 | P52952 | 469 |
| ETV2 | MYL7 | Q01449 | 457 |
| ETV2 | SOX18 | P35713 | 456 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ETV2 | TFRC | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (4): TFRC (Proximity Label-MS), KDM3A (Affinity Capture-Western), KDM3A (Reconstituted Complex), ETV2 (Reconstituted Complex)
ESM2 similar proteins: A1YGK1, A2T7E6, A8MZG2, A9YTQ3, O00321, O08574, O43593, O43638, O75593, O88621, P0C1T1, P0DV77, P14652, P19419, P41163, P43688, P46099, P70368, P97609, Q13351, Q32LE6, Q3B7M4, Q3ZBG8, Q5R638, Q5TM83, Q61574, Q61645, Q61660, Q63247, Q6KAU7, Q6NUN9, Q6ZN32, Q80Z64, Q86Y26, Q8BZ34, Q8BZW2, Q8CGW9, Q8IUC6, Q8IXT2, Q8NDX1
Diamond homologs: A0A1W2PQ73, A0JN51, A1A4L6, A1YF15, A1YG61, A1YG91, A2D4Z7, A2T737, A2T762, A3FEM2, A4GTP4, A8WFJ9, O00321, O01519, O70132, O70273, O95238, P01105, P10157, P11308, P11536, P13474, P14921, P15036, P15037, P15062, P18755, P18756, P19102, P19419, P20105, P26323, P27577, P28322, P28324, P29773, P29774, P29775, P29776, P32519
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ETV2 | “up-regulates quantity by expression” | FLI1 | “transcriptional regulation” |
| ETV2 | “up-regulates quantity by expression” | SPI1 | “transcriptional regulation” |
| GATA2 | “up-regulates activity” | ETV2 | binding |
| ETV2 | up-regulates | Differentiation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 54 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1162783 | NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr) | Likely pathogenic |
| 1162784 | NM_014209.4(ETV2):c.350del (p.Gly117fs) | Likely pathogenic |
SpliceAI
666 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:35642497:G:GT | donor_gain | 1.0000 |
| 19:35642511:G:T | donor_gain | 1.0000 |
| 19:35642525:GGC:G | donor_gain | 1.0000 |
| 19:35644226:A:AG | acceptor_gain | 1.0000 |
| 19:35644227:T:G | acceptor_gain | 1.0000 |
| 19:35644233:A:AG | acceptor_gain | 1.0000 |
| 19:35644233:AG:A | acceptor_gain | 1.0000 |
| 19:35644234:G:GA | acceptor_gain | 1.0000 |
| 19:35644234:GG:G | acceptor_gain | 1.0000 |
| 19:35644234:GGT:G | acceptor_gain | 1.0000 |
| 19:35644234:GGTC:G | acceptor_gain | 1.0000 |
| 19:35644234:GGTCC:G | acceptor_gain | 1.0000 |
| 19:35644329:GCT:G | donor_gain | 1.0000 |
| 19:35644345:GAG:G | donor_gain | 1.0000 |
| 19:35642497:G:T | donor_gain | 0.9900 |
| 19:35642695:A:T | donor_gain | 0.9900 |
| 19:35642719:C:CG | donor_gain | 0.9900 |
| 19:35642719:C:G | donor_gain | 0.9900 |
| 19:35642734:G:GT | donor_gain | 0.9900 |
| 19:35642742:G:GT | donor_gain | 0.9900 |
| 19:35643027:G:GT | donor_gain | 0.9900 |
| 19:35644226:ATCCC:A | acceptor_gain | 0.9900 |
| 19:35644230:C:A | acceptor_gain | 0.9900 |
| 19:35644330:C:G | donor_gain | 0.9900 |
| 19:35644343:AAGAG:A | donor_loss | 0.9900 |
| 19:35644344:AGAGG:A | donor_loss | 0.9900 |
| 19:35644345:G:GT | donor_gain | 0.9900 |
| 19:35644345:GAGG:G | donor_loss | 0.9900 |
| 19:35644346:AGGTG:A | donor_loss | 0.9900 |
| 19:35644347:GG:G | donor_loss | 0.9900 |
AlphaMissense
2188 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:35644324:T:C | F269L | 1.000 |
| 19:35644325:T:C | F269S | 1.000 |
| 19:35644326:C:A | F269L | 1.000 |
| 19:35644326:C:G | F269L | 1.000 |
| 19:35644255:T:C | F246L | 0.999 |
| 19:35644256:T:C | F246S | 0.999 |
| 19:35644257:C:A | F246L | 0.999 |
| 19:35644257:C:G | F246L | 0.999 |
| 19:35644305:G:C | W262C | 0.999 |
| 19:35644305:G:T | W262C | 0.999 |
| 19:35644325:T:G | F269C | 0.999 |
| 19:35644666:G:C | W281C | 0.999 |
| 19:35644666:G:T | W281C | 0.999 |
| 19:35644249:T:A | W244R | 0.998 |
| 19:35644249:T:C | W244R | 0.998 |
| 19:35644251:G:C | W244C | 0.998 |
| 19:35644251:G:T | W244C | 0.998 |
| 19:35644303:T:A | W262R | 0.998 |
| 19:35644303:T:C | W262R | 0.998 |
| 19:35644664:T:A | W281R | 0.998 |
| 19:35644664:T:C | W281R | 0.998 |
| 19:35644692:T:C | M290T | 0.998 |
| 19:35644693:G:A | M290I | 0.998 |
| 19:35644693:G:C | M290I | 0.998 |
| 19:35644693:G:T | M290I | 0.998 |
| 19:35644781:T:C | F320L | 0.998 |
| 19:35644783:C:A | F320L | 0.998 |
| 19:35644783:C:G | F320L | 0.998 |
| 19:35644678:G:C | K285N | 0.997 |
| 19:35644678:G:T | K285N | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000151679 (19:35640711 G>A), RS1000248813 (19:35645030 T>C), RS1000249590 (19:35644869 C>A,G), RS1000766937 (19:35640817 CATGT>C,CATGTATGT), RS1001311370 (19:35643539 C>A,T), RS1002270989 (19:35640245 G>A), RS1002719757 (19:35642085 C>A), RS1003218371 (19:35643308 C>G), RS1003313784 (19:35640780 T>C), RS1003671042 (19:35640946 A>C), RS1004198304 (19:35642494 C>G,T), RS1004314092 (19:35642937 C>A,G), RS1004594773 (19:35641148 C>T), RS1004666766 (19:35639821 C>T), RS1005051922 (19:35640856 TTTG>T)
Disease associations
OMIM: gene MIM:609358 | disease phenotypes: MIM:241550, MIM:603596
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital heart disease | Limited | Autosomal recessive |
Mondo (3): hypoplastic left heart syndrome (MONDO:0004933), polydactyly (MONDO:0021003), congenital heart disease (MONDO:0005453)
Orphanet (1): Hypoplastic left heart syndrome (Orphanet:2248)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0010442 | Polydactyly |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010703_277 | Brain morphology (MOSTest) | 2.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006330 | Heart Defects, Congenital | C14.240.400; C14.280.400; C16.131.240.400 |
| D018636 | Hypoplastic Left Heart Syndrome | C14.240.400.625; C14.280.400.625; C16.131.240.400.625 |
| D017689 | Polydactyly | C05.660.585.600; C16.131.621.585.600 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, affects cotreatment, decreases expression, decreases reaction, increases expression | 2 |
| sotorasib | increases expression, affects cotreatment | 1 |
| bisphenol A | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| tert-butylphenyl diphenyl phosphate | affects cotreatment, decreases expression, decreases reaction, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | increases expression | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Digitonin | increases expression, affects cotreatment, decreases expression, decreases reaction | 1 |
| Chlorpyrifos | affects cotreatment, decreases expression, decreases reaction, increases expression | 1 |
| Fluorouracil | affects cotreatment, decreases expression, decreases reaction, increases expression | 1 |
| Mercuric Chloride | affects cotreatment, decreases expression, decreases reaction, increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
4 cell lines: 4 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1N1 | SEES3-1V human ETV2, clone1 | Embryonic stem cell | Male |
| CVCL_A1N2 | SEES3-1V human ETV2, clone2 | Embryonic stem cell | Male |
| CVCL_A1N3 | SEES3-1V human ETV2, clone3 | Embryonic stem cell | Male |
| CVCL_C4RV | WAe009-A-92 | Embryonic stem cell | Female |
Clinical trials (associated diseases)
351 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 |
| NCT02781922 | PHASE3 | RECRUITING | Cardiac Stem/Progenitor Cell Infusion in Univentricular Physiology (APOLLON Trial) |
| 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 |
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, hypoplastic left heart syndrome, polydactyly