HEG1 Gene - Heart Development Protein with EGF-Like Domains 1
Essential regulator of heart morphogenesis and vascular integrity
Gene Information Card
| Symbol | HEG1 |
|---|---|
| Full Name | Heart development protein with EGF-like domains 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.2 |
| NCBI Gene ID | 57493 ncbi.nlm.nih.gov/gene/57493 |
| Ensembl ID | ENSG00000144891 |
| UniProt ID | Q9ULI3 |
| OMIM ID | 610852 |
| HGNC ID | 29249 |
| Aliases | FLJ10718, HEG, KIAA1237 |
Description
HEG1 (Heart development protein with EGF-like domains 1) encodes a transmembrane protein containing multiple epidermal growth factor (EGF)-like domains. It is essential for heart morphogenesis, particularly in the formation of the epicardium and coronary vasculature. The protein is involved in cell adhesion and signaling during cardiovascular development. Mutations in HEG1 have been associated with congenital heart defects and vascular anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart defects | Disruption of HEG1 impairs epicardial development and coronary vessel formation | OMIM #610852; PMID: 19274049 |
| Lymphatic malformations | HEG1 mutations may alter endothelial cell adhesion and lymphatic vessel integrity | ClinVar; PMID: 31564432 |
| Coronary artery anomalies | Loss of HEG1 function leads to abnormal coronary artery patterning | PMID: 19274049 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.2 | Low |
| Brain | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression in endothelial cells |
| Cardiomyocytes (iPS-derived) | 9.8 | Moderate expression |
| HEK293 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.567_568del (p.Leu190fs) | Frameshift | Rare | Loss of function; premature stop codon |
| c.2101G>A (p.Gly701Ser) | Missense | Unknown | Potential impact on EGF-like domain folding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing heart development.
Gain of Function (GOF)
No gain-of-function mutations reported in HEG1.
Dominant Negative (DN)
No dominant-negative mutations reported in HEG1.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • calcium ion binding (GO:0005509) |
| • integral component of membrane (GO:0016021) | • heart development (GO:0007507) |
| • artery development (GO:0060840) |
Pathways
• Cell adhesion molecules (CAMs)
• Heart development (Gene Ontology)
Protein Summary
HEG1 is a single-pass type I transmembrane protein with 14 EGF-like domains in its extracellular region. It is expressed predominantly in endothelial cells and plays a critical role in cell-cell adhesion and signaling during cardiovascular morphogenesis. The protein interacts with integrins and other extracellular matrix components to regulate epicardial cell migration and coronary vessel formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HEG1 Knockout HEK293 Cell Line | EDJ-KQ3631 | Human | 57493 | Details Get a Quote |
| HEG1 Knockout HCT 116 Cell Line | EDJ-KQ24202 | Human | 57493 | Details Get a Quote |
| HEG1 Knockout A-549 Cell Line | EDJ-KQ25575 | Human | 57493 | Details Get a Quote |
| HEG1 Knockout HeLa Cell Line | EDJ-KQ25576 | Human | 57493 | Details Get a Quote |
