DLL3 (delta like canonical Notch ligand 3)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10683
Gene name Gene Name - the full gene name approved by the HGNC.
Delta like canonical Notch ligand 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DLL3
Synonyms (NCBI Gene) Gene synonyms aliases
SCDO1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostos
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs104894674 G>A Pathogenic Coding sequence variant, missense variant
rs104894675 C>T Pathogenic Coding sequence variant, stop gained
rs104894676 G>A Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs200275281 C>G,T Pathogenic Missense variant, coding sequence variant, stop gained
rs771875570 C>A Pathogenic Coding sequence variant, stop gained
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development IMP 10742114
GO:0001756 Process Somitogenesis IEA
GO:0005112 Function Notch binding IBA
GO:0005112 Function Notch binding NAS 10742114
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602768 2909 ENSG00000090932
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NYJ7
Protein name Delta-like protein 3 (Drosophila Delta homolog 3) (Delta3)
Protein function Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 278 → 308 EGF-like domain Domain
PF00008 EGF 316 → 349 EGF-like domain Domain
PF00008 EGF 357 → 387 EGF-like domain Domain
PF00008 EGF 395 → 425 EGF-like domain Domain
PF12661 hEGF 438 → 459 Human growth factor-like EGF Domain
Sequence 
MVSPRMSGLLSQTVILALIFLPQTRPAGVFELQIHSFGPGPGPGAPRSPCSARLPCRLFF
RVCLKPGLSEEAAESPCALGAALSARGPVYTEQPGAPAPDLPLPDGLLQVPFRDAWPGTF
SFIIETWREELGDQIGGPAWSLLARVAGRRRLAAGGPWARDIQRAGAWELRFSYRARCEP
PAVGTACTRLCRPRSAPSRCGPGLRPCAPLEDECEAPLVCRAGCSPEHGFCEQPGECRCL
EGWTGPLCTVPVSTSSCLSPRGPSSATTGCLVPGPGPCDGNPCANGGSCSETPRSFECTC
PRGFYGLRCEVSGVTCADGPCFNGGLCVGGADPDSAYICHCPPGFQGSNCEKRVDRCSLQ
PCRNGGLCLDLGHALRCRCRAGFAGPRCEHDLDDCAGRACANGGTCVEGGGAHRCSCALG
FGGRDCRERADPCAARPCAHGGRCYAHFSGLVCACAPGYMGARCEFPVHPDGASALPAAP
PGLRPGDPQRYLLPPALGLLVAAGVAGAALLLVHVRRRGHSQDAGSRLLAGTPEPSVHAL
PDALNNLRTQEGSGDGPSSSVDWNRPEDVDPQGIYVISAPSIYAREVATPLFPPLHTGRA
GQRQHLLFPYPSSILSVK
Sequence length 618
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Endocrine resistance
Notch signaling pathway
Th1 and Th2 cell differentiation
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
spondylocostal dysostosis Spondylocostal dysostosis 1, autosomal recessive rs786205519, rs771875570, rs1447189148, rs761454301, rs786200900, rs777791545, rs786200902, rs104894675, rs786200903, rs104894676 N/A
Show/Hide Text Mining Associations (35)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27196489
Adenocarcinoma of Lung Associate 27196489
Arthritis Rheumatoid Associate 22190977
Breast Neoplasms Associate 18681966, 34184566
Carcinoid Tumor Associate 31431620, 39581377
Carcinoma Hepatocellular Associate 23337976, 26443326, 29555949
Carcinoma Hepatocellular Stimulate 28258914
Carcinoma Large Cell Associate 32691982, 33031101, 35608806, 38126617
Carcinoma Neuroendocrine Associate 31369178, 32691982, 35608806
Carcinoma Non Small Cell Lung Associate 19398556, 39423775