HEG1 [The Human Chemical-Genetic Interaction Map Project]

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======= HEG1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HEG1
  * **<color #00a2e8>Official Name</color>**: heart development protein with EGF like domains 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=57493|57493]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9ULI3|Q9ULI3]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HEG1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HEG1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/614182|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions. {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|EGF CA|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|lymph circulation|
|negative regulation of Rho-dependent protein serine/threonine kinase activity|
|regulation of Rho-dependent protein serine/threonine kinase activity|
|positive regulation of fibroblast growth factor production|
|negative regulation of membrane permeability|
|regulation of fibroblast growth factor production|
|venous blood vessel morphogenesis|
|protein localization to cell junction|
|endothelial cell morphogenesis|
|venous blood vessel development|
|ventricular trabecula myocardium morphogenesis|
|pericardium development|
|lymph vessel development|
|negative regulation of Rho protein signal transduction|
|cardiac muscle tissue growth|
|heart growth|
|cardiac atrium morphogenesis|
|heart trabecula morphogenesis|
|epithelial cell morphogenesis|
|cardiac atrium development|
|trabecula morphogenesis|
|ventricular cardiac muscle tissue morphogenesis|
|endothelial cell development|
|negative regulation of Ras protein signal transduction|
|ventricular cardiac muscle tissue development|
|negative regulation of small GTPase mediated signal transduction|
|vasculogenesis|
|cardiac muscle tissue morphogenesis|
|ventricular septum development|
|cardiac ventricle morphogenesis|
|muscle tissue morphogenesis|
|regulation of membrane permeability|
|endothelial cell differentiation|
|multicellular organism growth|
|muscle organ morphogenesis|
|post-embryonic development|
|endothelium development|
|organ growth|
|cell-cell junction assembly|
|cardiac septum development|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|negative regulation of protein serine/threonine kinase activity|
|cell-cell junction organization|
|regulation of Rho protein signal transduction|
|cytokine production|
|cardiac muscle tissue development|
|cell junction assembly|
|lung development|
|cardiac chamber development|
|cell-cell junction|
|respiratory tube development|
|epithelial cell development|
|respiratory system development|
|cell junction organization|
|negative regulation of protein kinase activity|
|regulation of Ras protein signal transduction|
|negative regulation of kinase activity|
|heart morphogenesis|
|negative regulation of transferase activity|
|striated muscle tissue development|
|muscle organ development|
|muscle tissue development|
|regulation of small GTPase mediated signal transduction|
|in utero embryonic development|
|developmental growth|
|growth|
|external side of plasma membrane|
|circulatory system process|
|negative regulation of protein phosphorylation|
|blood vessel morphogenesis|
|negative regulation of phosphorylation|
|positive regulation of cytokine production|
|muscle structure development|
|blood vessel development|
|regulation of body fluid levels|
|negative regulation of intracellular signal transduction|
|vasculature development|
|regulation of protein serine/threonine kinase activity|
|cardiovascular system development|
|heart development|
|cell morphogenesis involved in differentiation|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|tissue morphogenesis|
|negative regulation of protein modification process|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|epithelial cell differentiation|
|regulation of cytokine production|
|calcium ion binding|
|cell morphogenesis|
|negative regulation of catalytic activity|
|regulation of protein kinase activity|
|cellular component morphogenesis|
|tube development|
|circulatory system development|
|regulation of kinase activity|
|animal organ morphogenesis|
|embryo development|
|regulation of transferase activity|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|epithelium development|
|negative regulation of molecular function|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|regulation of protein phosphorylation|
|regulation of phosphorylation|
|negative regulation of response to stimulus|
|cell development|
|positive regulation of multicellular organismal process|
|tissue development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|extracellular region|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 7546
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.83 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HEG1 Expression in NALM6 Cells: 4.83'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>