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EDIL3 (EGF-Like Repeats And Discoidin I-Like Domains 3)

Written2014-03Hisataka Kitano, Chiaki Hidai
Division of Oral surgery, Department of Phisiology, Nihon university school of medicine, Tokyo 173-8610, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_namesEGF-like repeats and discoidin I-like domains 3
Alias_symbol (synonym)DEL1
Other alias
HGNC (Hugo) EDIL3
LocusID (NCBI) 10085
Atlas_Id 46078
Location 5q14.3  [Link to chromosome band 5q14]
Location_base_pair Starts at 83940595 and ends at 84384867 bp from pter ( according to hg19-Feb_2009)  [Mapping EDIL3.png]
Fusion genes
(updated 2016)
DPYD (1p21.3) / EDIL3 (5q14.3)EDIL3 (5q14.3) / ABAT (16p13.2)EDIL3 (5q14.3) / MKLN1 (7q32.3)
ETV4 (17q21.31) / EDIL3 (5q14.3)
Note EDIL3 is developmentally regulated and expressed during embryogenesis. It is expressed in extraembryonic mesoderm, specifically the yolk sac blood islands. EDIL3 is detected in angioblasts and early endothelial cells in four developing organs: heart, lung, kidney, and eye. It is also expressed in hypertrophic chondrocytes. Additionally, EDIL3 has a function that affects endocytosis, apoptosis, cell migration, or some combination thereof.

DNA/RNA

Note EDIL3 is an extracellular matrix protein that contains three EGF-like repeats and two discoidin I-like domains. The second EGF-like repeat contains an RGD integrin binding motif that appears to be a ligand for alpha-v beta-3 integrin receptor. Similarly, EDIL3 shares consensus sequences with the fate determining notch proteins and coagulation factor IX, coagulation factor V, and coagulation factor VIII.
 
Description 442.48 kb, mRNA: 2974 bp, 11 Exons.
Transcription The major transcript is represented by the most common cDNA clones, and it encodes a 480 amino acid protein in human. The major transcript encodes a protein that consists of a signal peptide comprising three epidermal growth factor- (EGF)-like repeats and two discoidin I-like domains. A less frequently represented minor transcript designated the minor transcript encodes a signal peptide comprising three EGF repeats and a portion of the amino-terminal discoidin I-like domain. There is additional complexity among other minor transcripts; specifically, the variation is in the inclusion or exclusion of sequences that encode 10 amino acids in the spacer region between EGF1 and EGF2.
Pseudogene Not known.

Protein

Note EDIL3 contains three Ca-binding EGF-like repeats and two discoidin I-like domains. There is an integrin-binding site in the second EGF-like repeat; specifically, this EGF-like repeat has an RGD peptide that binds to integrin alpha v beta 3.
Description EDIL3 has 480 amino acids, and its molecular weight is 52 kDa protein.
EDIL3 comprises 480 amino acids, and its molecular weight is 52 kDa protein.
- The domain of 1-23 is an initio prediction. The subsequent domain is 24-470 which EGF-like repeat and discoidin I-like domain-containing protein 3 isoform 2.
The region name is EGF1 which Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular proteins.
- Location: 27-59; many of these proteins require calcium for their biological function and calcium-binding sites.
The region name is EGF2 which Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular proteins.
- Location: 69-107; Many of these proteins require calcium for their biological function and calcium-binding sites.
The region name is EGF3 which Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular proteins.
- Location: 109-145; many of these proteins require calcium for their biological function and calcium-binding sites.
- Location: 109,112,126; Ca2+ binding site.
The region (147-304) name is FA58C which note - Coagulation factor 5/8 C-terminal domain, discoidin domain.
The region name is FA58C which note - Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes (150-303), sugar binding site (196,224,231).
The region (308-466) name is FA58C which note - Coagulation factor 5/8 C-terminal domain, discoidin domain.
The region name is FA58C which note - Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes (311-465), sugar binding site (358,386,393).
Expression EDIL3 is differentially expressed depending on the tissue and cell culture conditions.
Organism parts: (see below).
Kidney, myometrium, bone, spinal cord, stomach fundus, heart, colon cecum, urethra, islet of Langerhans, synovial membrane, lung, atherosclerotic aortic wall, internal mammary artery, liver tumor tissue, accumbens, amygdale, brain, caudate nucleus, central nervous system, cerebral cortex, colon mucosa, corpus callosum, dorsal root ganglion, frontal cortex, primary motor cortex, Brodmann's Area 4, frontal lobe, hippocampus, hypothalamus, medulla, midbrain, nodose nucleus, homogenized, occipital lobe, parietal lobe, putamen, saphenous vein, skin, substantia nigra, subthalamic nucleus, temporal lobe, testis, thalamus, trigeminal ganglion, umbilical cord, ventral tegmental area, vestibular nuclei superior, cervix, ovary, stomach, liver, smooth muscle.
The above data derive from the EDIL3 entry in the Expression Atlas.
Diseases: (see below)
Breast carcinoma, sarcoma, Combined Hepatocellular Cholangiocarcinoma (CHC), Intrahepatic Cholangiocarcinoma (ICC), leiomyosarcoma, pituitary cancer, extranodal NK/T-cell lymphoma, osteosarcoma, undifferentiated sarcoma, invasive ductal carcinoma, mucosa-associated lymphoid tissue lymphoma, papillary thyroid carcinoma, peripheral T-cell lymphoma, pancreatic cancer, cervical cancer, clear cell renal carcinoma, engineered invasive esophageal squamous cell carcinoma, prostate carcinoma.
The above data derive from the EDIL3 entry in the Expression Atlas.
Cell lines: (see below)
DU145, ACHN, CaOv3, Caki2, H460, HeLa, KG1, MDAMB231, GM10833, GM13883, HCC70, U87 CuFi, U251, NCIH1623, SCC-25, 786-O, ITM, HCC-1428, HuNS1, AG10750, LNCAP, SW780, AG11498, KTCL26, NCIH1436, Capan2, GM10842, HMESO, SKRC54, UMRC3, 639V, A172, A7, Acute Lymphoblastic Leukemia cell line SEM-K2, BE2C, BHT101, BM1604, C32TG, C4II, CCFSTTG1, CESS, CGTHW1, CHP212, COLO320DM, COLO320HSR, COLO704, CORL279, CORL88, Calu1, D283Med, DBTRG05MG, DKMG, DMS114, DMS273, Detroit562, GDM1, GLI60 glioblastoma cell line, H1975, H4, H460a, HCC1143, HCC1395, HDMYZ, HOS, HT1080, HT3, HuPT4, IM9, KHOS240S, KU812, L591, MCF-7/LTED,,MCF10-T1k (MII), MDA-MB-231, MT4, NCIH1048, NCIH1355, NCIH1395, NCIH1563, NCIH1651, NCIH1694, NCIH1770, CIH1792, NCIH1975,NCIH1993, NCIH2009, NCIH2030 ,NCIH2052, NCIH2228, NCIH226, NCIH2347, NCIH358, NCIH446, NCIH524, NCIH69, NCIH716, NCIH748, NCIH810, NCIH82, OE21, PC-3, PC-3/Mc, RCC4, RDES, SCaBER, SHP77, SJRH30, SJSA1, SKLMS1, SKMES1, SKNEP1, SNB19, SNU18, 2SNU387, SNU423, SNU449, SNU475, SW1088, SW1353, SW1783, SW1990, SW756, SW900, SW954, SW982, T98G glioma, TaY-E10, UT-15, WI38, WM115, Y79, YPAC, A498, BT474, PC3, SKOV3, HL-60, A549.
The above data derive from the EDIL3 entry in the Expression Atlas Expression Atlas.
Function EDIL3 promotes adhesion of endothelial cells to extracellular matrix through interaction with the alpha-v/beta-3 integrin receptor. It inhibits the formation of vascular-like structures in vitro. Exogenous EDIL3 causes abnormal vasculature in chick embryos. Overexpression of EDIL3 decreases vasculature in mesenteric vessels. It may be involved in the regulation of vascular morphogenesis and remodeling during embryonic development.
Reportedly, high expression of EDIL3 by cancer cells is an indicator of poor prognosis, possibly because EDIL3 can enhance vascular formation in hepatocellular carcinoma, colon cancer, and experimental models with an osteosarcoma cell line or with Lewis lung carcinoma. However, an EDIL3 fragment containing the third EGF-like repeat induces apoptosis. In a mouse model of cancer involving an explanted tumor, gene therapy with DNA encoding a recombinant protein comprising the third EGF-like repeat and the first discoidin 1 like domain efficiently induces apoptosis, reduces tumor growth, and improves prognosis.
Homology The EGF repeats of EDIL3 are homologous to molecules such as Notch (Accession: NM_017617.3) and its ligands Crumbs (Accession: CH471090.1) and Delta (Accession: NT_033777.2). There is also considerable homology in this region to the following four other proteins: a developmental sea urchin protein fibropellin (Accession: NW_003578619.1); a factor shown to function in lineage commitment of adipocytes (Accession: NC_000003.11); an endothelial cell-specific receptor tyrosine kinase (Accession: NC_000070.6) known to be essential for embryonic blood vessel development; and coagulation factor IX (Accession: NM_000133), which has a role in the coagulation cascade. In its discoidin I-like domains, EDIL3 is homologous to five proteins: the mammary epithelial cell marker milk fat globule membrane protein (Accession: NC_000015.9), coagulation factors V (Accession: NC_000001.10) and VIII (Accession: NP_000123.1), the extracellular domain of a group of tumor-associated orphan receptor tyrosine kinases (Accession: Q01973, Q01974), and discoidin domain receptor tylosin kinase (Accession: AB_202100, BC_052998).

Mutations

Note Not known in human.

Implicated in

Note
  
Entity Hepatocellular carcinoma (HCC)
Note When immunocytochemistry and tumor tissue samples from 101 patients with HCC were used to examine expression level of EDIL3 protein in HCCs, EDIL3 was detected in the cytoplasm of HCC cells. Overall, 95 (94.06%) of the 101 patients exhibited EDIL3-positive expression in the respective HCC samples, and 6 (5.94%) exhibited EDIL3-negative expression in the HCC samples. Among these 101 patients with HCC, 49 (48.5%) exhibited high levels of EDIL3 expression in normal somatic tissue, and 52 (51.5%) exhibited low levels of EDIL3 expression. The high expression level of EDIL3 protein in HCC samples was a significant prognostic factor for poor overall survival among patients with HCC. The 5-year survival rate among patients with HCC and a high or a low EDIL3 protein expression level was 32.4% and 53.2%, respectively. (Sun et al., 2010).
  
  
Entity Colon cancer
Note Tumor tissues from 10 patients with colon cancer were immunostained with anti-Del1 antibody, and Del1 was found to be expressed in each colon cancer tissue sample (100%) at various levels. Using a mouse model of colon cancer involving explanted cells from a culture line, both Del1-shRNA and VEGF-shRNA gene therapies showed a synergic effect in suppressing growth of explanted tumors by anti-angiogenesis and anti-proliferation. (Zou et al., 2009).
  
  
Entity Other tumors
Note In cases of basal cell carcinoma or astrocytoma, Del1 expression was detected via immunohistochemistry, and Del1 expression was primarily evident in the matrix and basement membrane that surrounded tumor cells. Low-level Del1 staining was also evident over some of the cell bodies. Del1 signal was not detected in tumor-associated endothelial cells.
A large percentage of cells in primary breast carcinomas, melanomas, and colon cancers in humans reportedly express Del1. Additionally, endothelial cells also reportedly express Del1 in these tumors.
Aoka et al. have reported that Del1 accelerates tumor growth by enhancing vascular formation in a mouse explanted tumor model involving an osteosarcoma cell line (Aoka et al., 2002).
  

Bibliography

Accuracy of the EcoRV restriction endonuclease: binding and cleavage studies with oligodeoxynucleotide substrates containing degenerate recognition sequences.
Alves J, Selent U, Wolfes H.
Biochemistry. 1995 Sep 5;34(35):11191-7.
PMID 7669777
 
The embryonic angiogenic factor Del1 accelerates tumor growth by enhancing vascular formation.
Aoka Y, Johnson FL, Penta K, Hirata Ki K, Hidai C, Schatzman R, Varner JA, Quertermous T.
Microvasc Res. 2002 Jul;64(1):148-61.
PMID 12074641
 
Expression of developmentally regulated endothelial cell locus 1 was induced by tumor-derived factors including VEGF.
Aoki M, Kanamori M, Ohmori K, Takaishi M, Huh NH, Nogami S, Kimura T.
Biochem Biophys Res Commun. 2005 Aug 5;333(3):990-5.
PMID 15964546
 
Notch signaling.
Artavanis-Tsakonas S, Matsuno K, Fortini ME.
Science. 1995 Apr 14;268(5208):225-32. (REVIEW)
PMID 7716513
 
A fibrous-bed bioreactor for continuous production of developmental endothelial locus-1 by osteosarcoma cells.
Chen C, Huang YL, Yang ST.
J Biotechnol. 2002 Jul 17;97(1):23-39.
PMID 12052680
 
Del-1, an endogenous leukocyte-endothelial adhesion inhibitor, limits inflammatory cell recruitment.
Choi EY, Chavakis E, Czabanka MA, Langer HF, Fraemohs L, Economopoulou M, Kundu RK, Orlandi A, Zheng YY, Prieto DA, Ballantyne CM, Constant SL, Aird WC, Papayannopoulou T, Gahmberg CG, Udey MC, Vajkoczy P, Quertermous T, Dimmeler S, Weber C, Chavakis T.
Science. 2008 Nov 14;322(5904):1101-4. doi: 10.1126/science.1165218.
PMID 19008446
 
Developmental endothelial locus-1 (Del-1) mediates clearance of platelet microparticles by the endothelium.
Dasgupta SK, Le A, Chavakis T, Rumbaut RE, Thiagarajan P.
Circulation. 2012 Apr 3;125(13):1664-72. doi: 10.1161/CIRCULATIONAHA.111.068833. Epub 2012 Mar 2.
PMID 22388320
 
Expression of developmental endothelial locus-1 in a subset of macrophages for engulfment of apoptotic cells.
Hanayama R, Tanaka M, Miwa K, Nagata S.
J Immunol. 2004 Mar 15;172(6):3876-82.
PMID 15004195
 
Discoidin domain of Del1 protein contributes to its deposition in the extracellular matrix.
Hidai C, Kawana M, Kitano H, Kokubun S.
Cell Tissue Res. 2007 Oct;330(1):83-95. Epub 2007 Aug 14.
PMID 17701220
 
Cloning and characterization of developmental endothelial locus-1: an embryonic endothelial cell protein that binds the alphavbeta3 integrin receptor.
Hidai C, Zupancic T, Penta K, Mikhail A, Kawana M, Quertermous EE, Aoka Y, Fukagawa M, Matsui Y, Platika D, Auerbach R, Hogan BL, Snodgrass R, Quertermous T.
Genes Dev. 1998 Jan 1;12(1):21-33.
PMID 9420328
 
A sea urchin gene encodes a polypeptide homologous to epidermal growth factor.
Hursh DA, Andrews ME, Raff RA.
Science. 1987 Sep 18;237(4821):1487-90.
PMID 3498216
 
Complete cDNA and derived amino acid sequence of human factor V.
Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG.
Proc Natl Acad Sci U S A. 1987 Jul;84(14):4846-50.
PMID 3110773
 
Role of the endothelial-derived endogenous anti-inflammatory factor Del-1 in inflammation-mediated adrenal gland dysfunction.
Kanczkowski W, Chatzigeorgiou A, Grossklaus S, Sprott D, Bornstein SR, Chavakis T.
Endocrinology. 2013 Mar;154(3):1181-9. doi: 10.1210/en.2012-1617. Epub 2013 Jan 30.
PMID 23364949
 
An epidermal growth factor-like repeat of Del1 protein increases the efficiency of gene transfer in vitro.
Kitano H, Hidai C, Kawana M, Kokubun S.
Mol Biotechnol. 2008 Jul;39(3):179-85. doi: 10.1007/s12033-008-9038-7. Epub 2008 Mar 6.
PMID 18322824
 
The extracellular matrix protein Del1 induces apoptosis via its epidermal growth factor motif.
Kitano H, Kokubun S, Hidai C.
Biochem Biophys Res Commun. 2010 Mar 19;393(4):757-61. doi: 10.1016/j.bbrc.2010.02.076. Epub 2010 Feb 18.
PMID 20171188
 
Efficient nonviral gene therapy with FasL and Del1 fragments in mice.
Kitano H, Mamiya A, Kokubun S, Hidai C.
J Gene Med. 2012 Nov;14(11):642-50. doi: 10.1002/jgm.2682.
PMID 23136083
 
An epidermal growth factor motif from Del1 protein increases the efficiency of in vivo gene transfer with a non-viral vector.
Mamiya A, Kitano H, Takao K, Kokubun S, Komiya M, Hidai C.
Mol Biotechnol. 2013 Jun;54(2):445-50. doi: 10.1007/s12033-012-9582-z.
PMID 22782704
 
The role of adhesion molecules, alpha v beta 3, alpha v beta 5 and their ligands in the tumor cell and endothelial cell adhesion.
Niu JX, Zhang WJ, Ye LY, Wu LQ, Zhu GJ, Yang ZH, Grau GE, Lou JN.
Eur J Cancer Prev. 2007 Dec;16(6):517-27.
PMID 18090124
 
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S.
Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21.
PMID 14702039
 
A novel endothelial cell surface receptor tyrosine kinase with extracellular epidermal growth factor homology domains.
Partanen J, Armstrong E, Makela TP, Korhonen J, Sandberg M, Renkonen R, Knuutila S, Huebner K, Alitalo K.
Mol Cell Biol. 1992 Apr;12(4):1698-707.
PMID 1312667
 
Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor.
Rebay I, Fleming RJ, Fehon RG, Cherbas L, Cherbas P, Artavanis-Tsakonas S.
Cell. 1991 Nov 15;67(4):687-99.
PMID 1657403
 
Del1 mediates VSMC adhesion, migration, and proliferation through interaction with integrin alpha(v)beta(3).
Rezaee M, Penta K, Quertermous T.
Am J Physiol Heart Circ Physiol. 2002 May;282(5):H1924-32.
PMID 11959660
 
The RGD finger of Del-1 is a unique structural feature critical for integrin binding.
Schurpf T, Chen Q, Liu JH, Wang R, Springer TA, Wang JH.
FASEB J. 2012 Aug;26(8):3412-20. doi: 10.1096/fj.11-202036. Epub 2012 May 17.
PMID 22601780
 
Pref-1, a protein containing EGF-like repeats, inhibits adipocyte differentiation.
Smas CM, Sul HS.
Cell. 1993 May 21;73(4):725-34.
PMID 8500166
 
cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal growth factor-like domains linked to factor VIII-like sequences.
Stubbs JD, Lekutis C, Singer KL, Bui A, Yuzuki D, Srinivasan U, Parry G.
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8417-21.
PMID 2122462
 
High expression level of EDIL3 in HCC predicts poor prognosis of HCC patients.
Sun JC, Liang XT, Pan K, Wang H, Zhao JJ, Li JJ, Ma HQ, Chen YB, Xia JC.
World J Gastroenterol. 2010 Sep 28;16(36):4611-5.
PMID 20857535
 
crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia.
Tepass U, Theres C, Knust E.
Cell. 1990 Jun 1;61(5):787-99.
PMID 2344615
 
Molecular cloning of a cDNA encoding human antihaemophilic factor.
Toole JJ, Knopf JL, Wozney JM, Sultzman LA, Buecker JL, Pittman DD, Kaufman RJ, Brown E, Shoemaker C, Orr EC, et al.
Nature. 1984 Nov 22-28;312(5992):342-7.
PMID 6438528
 
Downregulation of developmentally regulated endothelial cell locus-1 inhibits the growth of colon cancer.
Zou X, Qiao H, Jiang X, Dong X, Jiang H, Sun X.
J Biomed Sci. 2009;16:33. doi: 10.1186/1423-0127-16-33. Epub 2008 Dec 25.
PMID 19292890
 
Cloning, analysis, and chromosomal localization of Notch-1, a mouse homolog of Drosophila Notch.
del Amo FF, Gendron-Maguire M, Swiatek PJ, Jenkins NA, Copeland NG, Gridley T.
Genomics. 1993 Feb;15(2):259-64.
PMID 8449489
 

Citation

This paper should be referenced as such :
H Kitano, C Hidai
EDIL3 (EGF-Like Repeats And Discoidin I-Like Domains 3)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(11):824-828.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/EDIL3ID46078ch5q14.html


External links

Nomenclature
HGNC (Hugo)EDIL3   3173
Cards
AtlasEDIL3ID46078ch5q14
Entrez_Gene (NCBI)EDIL3  10085  EGF like repeats and discoidin domains 3
AliasesDEL1
GeneCards (Weizmann)EDIL3
Ensembl hg19 (Hinxton)ENSG00000164176 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164176 [Gene_View]  chr5:83940595-84384867 [Contig_View]  EDIL3 [Vega]
ICGC DataPortalENSG00000164176
TCGA cBioPortalEDIL3
AceView (NCBI)EDIL3
Genatlas (Paris)EDIL3
WikiGenes10085
SOURCE (Princeton)EDIL3
Genetics Home Reference (NIH)EDIL3
Genomic and cartography
GoldenPath hg38 (UCSC)EDIL3  -     chr5:83940595-84384867 -  5q14.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EDIL3  -     5q14.3   [Description]    (hg19-Feb_2009)
EnsemblEDIL3 - 5q14.3 [CytoView hg19]  EDIL3 - 5q14.3 [CytoView hg38]
Mapping of homologs : NCBIEDIL3 [Mapview hg19]  EDIL3 [Mapview hg38]
OMIM606018   
Gene and transcription
Genbank (Entrez)AA053720 AK302942 AK312858 BC030828 BC053656
RefSeq transcript (Entrez)NM_001278642 NM_005711
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EDIL3
Cluster EST : UnigeneHs.482730 [ NCBI ]
CGAP (NCI)Hs.482730
Alternative Splicing GalleryENSG00000164176
Gene ExpressionEDIL3 [ NCBI-GEO ]   EDIL3 [ EBI - ARRAY_EXPRESS ]   EDIL3 [ SEEK ]   EDIL3 [ MEM ]
Gene Expression Viewer (FireBrowse)EDIL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10085
GTEX Portal (Tissue expression)EDIL3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43854   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43854  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43854
Splice isoforms : SwissVarO43854
PhosPhoSitePlusO43854
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    FA58C_1 (PS01285)    FA58C_2 (PS01286)    FA58C_3 (PS50022)   
Domains : Interpro (EBI)EDIL-3    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    FA58C    Galactose-bd-like   
Domain families : Pfam (Sanger)EGF (PF00008)    F5_F8_type_C (PF00754)    hEGF (PF12661)   
Domain families : Pfam (NCBI)pfam00008    pfam00754    pfam12661   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  FA58C (SM00231)  
Conserved Domain (NCBI)EDIL3
DMDM Disease mutations10085
Blocks (Seattle)EDIL3
PDB (SRS)4D90   
PDB (PDBSum)4D90   
PDB (IMB)4D90   
PDB (RSDB)4D90   
Structural Biology KnowledgeBase4D90   
SCOP (Structural Classification of Proteins)4D90   
CATH (Classification of proteins structures)4D90   
SuperfamilyO43854
Human Protein AtlasENSG00000164176
Peptide AtlasO43854
HPRD09350
IPIIPI00306046   IPI00399105   
Protein Interaction databases
DIP (DOE-UCLA)O43854
IntAct (EBI)O43854
FunCoupENSG00000164176
BioGRIDEDIL3
STRING (EMBL)EDIL3
ZODIACEDIL3
Ontologies - Pathways
QuickGOO43854
Ontology : AmiGOintegrin binding  calcium ion binding  cell adhesion  multicellular organism development  positive regulation of cell-substrate adhesion  extracellular matrix  extracellular exosome  extracellular vesicle  
Ontology : EGO-EBIintegrin binding  calcium ion binding  cell adhesion  multicellular organism development  positive regulation of cell-substrate adhesion  extracellular matrix  extracellular exosome  extracellular vesicle  
NDEx NetworkEDIL3
Atlas of Cancer Signalling NetworkEDIL3
Wikipedia pathwaysEDIL3
Orthology - Evolution
OrthoDB10085
GeneTree (enSembl)ENSG00000164176
Phylogenetic Trees/Animal Genes : TreeFamEDIL3
HOVERGENO43854
HOGENOMO43854
Homologs : HomoloGeneEDIL3
Homology/Alignments : Family Browser (UCSC)EDIL3
Gene fusions - Rearrangements
Fusion : MitelmanDPYD/EDIL3 [1p21.3/5q14.3]  [t(1;5)(p21;q14)]  
Fusion : MitelmanEDIL3/MKLN1 [5q14.3/7q32.3]  [t(5;7)(q14;q32)]  
Fusion: TCGADPYD 1p21.3 EDIL3 5q14.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEDIL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EDIL3
dbVarEDIL3
ClinVarEDIL3
1000_GenomesEDIL3 
Exome Variant ServerEDIL3
ExAC (Exome Aggregation Consortium)EDIL3 (select the gene name)
Genetic variants : HAPMAP10085
Genomic Variants (DGV)EDIL3 [DGVbeta]
DECIPHEREDIL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEDIL3 
Mutations
ICGC Data PortalEDIL3 
TCGA Data PortalEDIL3 
Broad Tumor PortalEDIL3
OASIS PortalEDIL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEDIL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEDIL3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EDIL3
DgiDB (Drug Gene Interaction Database)EDIL3
DoCM (Curated mutations)EDIL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EDIL3 (select a term)
intoGenEDIL3
NCG5 (London)EDIL3
Cancer3DEDIL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606018   
Orphanet
MedgenEDIL3
Genetic Testing Registry EDIL3
NextProtO43854 [Medical]
TSGene10085
GENETestsEDIL3
Target ValidationEDIL3
Huge Navigator EDIL3 [HugePedia]
snp3D : Map Gene to Disease10085
BioCentury BCIQEDIL3
ClinGenEDIL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10085
Chemical/Pharm GKB GenePA27613
Clinical trialEDIL3
Miscellaneous
canSAR (ICR)EDIL3 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEDIL3
EVEXEDIL3
GoPubMedEDIL3
iHOPEDIL3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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