Heart development (WP1591)

Homo sapiens

This pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs, and regulatory proteins that impact the regional specificity of the human heart. Activating signals are indicated by arrows while inhibitory signals are indicated by T-bars. Special thanks to Kim Cordes for her assistance in revising this pathway, based on recent heart development research. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP1591 CPTAC Assay Portal]


Samuel Sklar , Nathan Salomonis , Kristina Hanspers , Jonathan Mélius , Martina Summer-Kutmon , Marvin Martens , and Eric Weitz


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Homo sapiens



Cell Type Ontology

vascular associated smooth muscle cell smooth muscle cell neural crest derived

Disease Ontology

heart disease

Pathway Ontology

regulatory pathway


Label Type Compact URI Comment
HEY2 GeneProduct ncbigene:23493
VEGFC GeneProduct ncbigene:7424
MAPK1 GeneProduct ncbigene:5594
SMAD1 GeneProduct ncbigene:4086
FGF8 GeneProduct ncbigene:2253
FOXH1 GeneProduct ncbigene:8928
GATA4 GeneProduct ncbigene:2626
CTNNB1 GeneProduct ncbigene:1499
NKX2-5 GeneProduct ncbigene:1482
ERBB3 GeneProduct ncbigene:2065
IRX4 GeneProduct ncbigene:50805
PTPN11 GeneProduct ncbigene:5781
TBX5 GeneProduct ncbigene:6910
NOTCH1 GeneProduct ncbigene:4851
NKX2-5 GeneProduct ncbigene:1482
BMPR2 GeneProduct ncbigene:659
TBX20 GeneProduct ncbigene:57057
BHLHE40 GeneProduct ncbigene:8553 In other species, this is BHLHB2
MEF2C GeneProduct ncbigene:4208
SMYD1 GeneProduct ncbigene:150572
BMP2 GeneProduct ncbigene:650
MEF2C GeneProduct ncbigene:4208
NKX2-5 GeneProduct ncbigene:1482
FOXC1 GeneProduct ncbigene:2296
TBX5 GeneProduct ncbigene:6910
BMP10 GeneProduct ncbigene:27302
NKX2-5 GeneProduct ncbigene:1482
MIR145 GeneProduct ensembl:ENSG00000276365
FOXC2 GeneProduct ncbigene:2303
HEY1 GeneProduct ncbigene:23462
MIR1-1 GeneProduct ensembl:ENSG00000199017
GATA4 GeneProduct ncbigene:2626
NFATC4 GeneProduct ncbigene:4776
ISL1 GeneProduct ncbigene:3670
MIR143 GeneProduct ensembl:ENSG00000284182
NFATC1 GeneProduct ncbigene:4772
TBX2 GeneProduct ncbigene:6909
VEGFA GeneProduct ncbigene:7422
NOTCH1 GeneProduct ncbigene:4851
GATA4 GeneProduct ncbigene:2626
BMPR1A GeneProduct ncbigene:657
SHH GeneProduct ncbigene:6469
VEGFB GeneProduct ncbigene:7423
FGF10 GeneProduct ncbigene:2255
GATA6 GeneProduct ncbigene:2627
GATA4 GeneProduct ncbigene:2626
SRF GeneProduct ncbigene:6722
TBX20 GeneProduct ncbigene:57057
SMAD4 GeneProduct ncbigene:4089
HAND2 GeneProduct ncbigene:9464
NFATC2 GeneProduct ncbigene:4773
MEF2C GeneProduct ncbigene:4208
TBX1 GeneProduct ncbigene:6899
TBX2 GeneProduct ncbigene:6909
FOXA2 GeneProduct ncbigene:3170
BMP4 GeneProduct ncbigene:652
BMP2 GeneProduct ncbigene:650
NKX2-5 GeneProduct ncbigene:1482
PITX2 GeneProduct ncbigene:5308
SRF GeneProduct ncbigene:6722
NFATC3 GeneProduct ncbigene:4775
TBX5 GeneProduct ncbigene:6910
TBX5 GeneProduct ncbigene:6910
HAND1 GeneProduct ncbigene:9421


  1. Development of heart valves requires Gata4 expression in endothelial-derived cells. Rivera-Feliciano J, Lee KH, Kong SW, Rajagopal S, Ma Q, Springer Z, et al. Development. 2006 Sep;133(18):3607–18. PubMed Europe PMC Scholia
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