Gene Gene information from NCBI Gene database.
Entrez ID 10085
Gene name EGF like repeats and discoidin domains 3
Gene symbol EDIL3
Synonyms (NCBI Gene)
DEL1
Chromosome 5
Chromosome location 5q14.3
Summary 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.
179
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606018 3173 ENSG00000164176
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS CTD
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 8646748
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26545781, 28819306
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37657448 Stimulate
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 23308121
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26735172
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder GWASCAT_DG 31116379
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 24530986
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29393238, 31110935, 31330520, 7814151
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33832090 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 17006932, 20857535 Associate
★☆☆☆☆
Found in Text Mining only