Gene Gene information from NCBI Gene database.
Entrez ID 57493
Gene name Heart development protein with EGF like domains 1
Gene symbol HEG1
Synonyms (NCBI Gene)
HEGMST112MSTP112
Chromosome 3
Chromosome location 3q21.2
miRNA miRNA information provided by mirtarbase database.
731
miRTarBase ID miRNA Experiments Reference
MIRT020310 hsa-miR-130b-3p Sequencing 20371350
MIRT027725 hsa-miR-98-5p Microarray 19088304
MIRT028175 hsa-miR-93-5p Sequencing 20371350
MIRT031232 hsa-miR-19b-3p Sequencing 20371350
MIRT1043734 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001885 Process Endothelial cell development IEA
GO:0001886 Process Endothelial cell morphogenesis IEA
GO:0001944 Process Vasculature development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614182 29227 ENSG00000173706
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULI3
Protein name Protein HEG homolog 1
Protein function 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.
PDB 3U7D , 4HDQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 989 1021 EGF-like domain Domain
PF07645 EGF_CA 1025 1063 Calcium-binding EGF domain Domain
Sequence
MASPRASRWPPPLLLLLLPLLLLPPAAPGTRDPPPSPARRALSLAPLAGAGLELQLERRP
EREPPPTPPRERRGPATPGPSYRAPEPGAATQRGPSGRAPRGGSADAAWKHWPESNTEAH
VENITFYQNQEDFSTVSSKEGVMVQTSGKSHAASDAPENLTLLAETADARGRSGSSSRTN
FTILPVGYSLEIATALTSQSGNLASESLHLPSSSSEFDERIAAFQTKSGTASEMGTERAM
GLSEEWTVHSQEATTSAWSPSFLPALEMGELTTPSRKRNSSGPDLSWLHFYRTAASSPLL
DLSSSSESTEKLNNSTGLQSSSVSQTKTMHVATVFTDGGPRTLRSLTVSLGPVSKTEGFP
KDSRIATTSSSVLLSPSAVESRRNSRVTGNPGDEEFIEPSTENEFGLTSLRWQNDSPTFG
EHQLASSSEVQNGSPMSQTETVSRSVAPMRGGEITAHWLLTNSTTSADVTGSSASYPEGV
NASVLTQFSDSTVQSGGSHTALGDRSYSESSSTSSSESLNSSAPRGERSIAGISYGQVRG
TAIEQRTSSDHTDHTYLSSTFTKGERALLSITDNSSSSDIVESSTSYIKISNSSHSEYSS
FFHAQTERSNISSYDGEYAQPSTESPVLHTSNLPSYTPTINMPNTSVVLDTDAEFVSDSS
SSSSSSSSSSSSGPPLPLPSVSQSHHLFSSILPSTRASVHLLKSTSDASTPWSSSPSPLP
VSLTTSTSAPLSVSQTTLPQSSSTPVLPRARETPVTSFQTSTMTSFMTMLHSSQTADLKS
QSTPHQEKVITESKSPSLVSLPTESTKAVTTNSPLPPSLTESSTEQTLPATSTNLAQMSP
TFTTTILKTSQPLMTTPGTLSSTASLVTGPIAVQTTAGKQLSLTHPEILVPQISTEGGIS
TERNRVIVDATTGLIPLTSVPTSAKEMTTKLGVTAEYSPASRSLGTSPSPQTTVVSTAED
LAPKSATFAVQSSTQSPTTVSSSASVNSCAVNPCLHNGECVADNTSRGYHCRCPPSWQGD
D
CSVDVNECLSNPCPSTAMCNNTQGSFICKCPVGYQLEKGICNLVRTFVTEFKLKRTFLN
TTVEKHSDLQEVENEITKTLNMCFSALPSYIRSTVHASRESNAVVISLQTTFSLASNVTL
FDLADRMQKCVNSCKSSAEVCQLLGSQRRIFRAGSLCKRKSPECDKDTSICTDLDGVALC
QCKSGYFQFNKMDHSCRACEDGYRLENETCMSCPFGLGGLNCGNPYQLITVVIAAAGGGL
LLILGIALIVTCCRKNKNDISKLIFKSGDFQMSPYAEYPKNPRSQEWGREAIEMHENGST
KNLLQMTDVYYSPTSVRNPELERNGLYPAYTGLPGSRHSCIFPGQYNPSFISDESRRRDY
F
Sequence length 1381
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 34240508 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 17620309
★☆☆☆☆
Found in Text Mining only
Gastrointestinal Stromal Tumors Gastrointestinal stromal tumor Pubtator 39741326 Associate
★☆☆☆☆
Found in Text Mining only
Graves Disease Graves disease Pubtator 18778364 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 31278131, 31654571
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 35950222 Inhibit
★☆☆☆☆
Found in Text Mining only
Mesothelioma Mesothelioma Pubtator 28361969 Associate
★☆☆☆☆
Found in Text Mining only
Mesothelioma Malignant Mesothelioma Pubtator 28361969, 34240508 Associate
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm BEFREE 17620309
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 34240508 Associate
★☆☆☆☆
Found in Text Mining only