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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs114681156 RCV005903490
Sarcoma Benign rs114681156 RCV005903491
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 35950222
Carcinoma Squamous Cell Associate 34240508
Gastrointestinal Stromal Tumors Associate 39741326
Graves Disease Associate 18778364
Inflammation Inhibit 18778364
IRAK4 Deficiency Associate 39741326
Lung Diseases Inhibit 35950222
Mesothelioma Associate 28361969
Mesothelioma Malignant Associate 28361969, 34240508
Neoplasms Associate 34240508, 35950222