Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10085
Gene name Gene Name - the full gene name approved by the HGNC.
EGF like repeats and discoidin domains 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EDIL3
Synonyms (NCBI Gene) Gene synonyms aliases
DEL1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q14.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030686 hsa-miR-21-5p Microarray 18591254
MIRT611638 hsa-miR-548ac HITS-CLIP 23824327
MIRT611637 hsa-miR-548bb-3p HITS-CLIP 23824327
MIRT611636 hsa-miR-548d-3p HITS-CLIP 23824327
MIRT611635 hsa-miR-548h-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding TAS 9420328
GO:0005201 Function Extracellular matrix structural constituent RCA 23979707, 27068509, 28327460
GO:0005509 Function Calcium ion binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606018 3173 ENSG00000164176
Protein
UniProt ID O43854
Protein name EGF-like repeat and discoidin I-like domain-containing protein 3 (Developmentally-regulated endothelial cell locus 1 protein) (Integrin-binding protein DEL1)
Protein function Promotes adhesion of endothelial cells through interaction with the alpha-v/beta-3 integrin receptor. Inhibits formation of vascular-like structures. May be involved in regulation of vascular morphogenesis of remodeling in embryonic development.
PDB 4D90
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 26 58 EGF-like domain Domain
PF00008 EGF 78 115 EGF-like domain Domain
PF12661 hEGF 128 146 Human growth factor-like EGF Domain
PF00754 F5_F8_type_C 173 311 F5/8 type C domain Domain
PF00754 F5_F8_type_C 334 473 F5/8 type C domain Domain
Sequence
Sequence length 480
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Breast Cancer Breast cancer specific mortality in estrogen receptor negative breast cancer N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28819306
Alzheimer Disease Stimulate 37657448
Breast Neoplasms Associate 33832090
Carcinoma Hepatocellular Associate 17006932, 20857535
Diabetes Mellitus Stimulate 33862081
Diabetes Mellitus Type 2 Associate 17495183
Endometrial Neoplasms Stimulate 30961491
Glomerulonephritis IGA Stimulate 33936064
HELLP Syndrome Inhibit 37511523
Intermittent Claudication Associate 15212720