DLL3 (delta like canonical Notch ligand 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10683
Gene name Delta like canonical Notch ligand 3
Gene symbol DLL3
Synonyms (NCBI Gene)
SCDO1
Chromosome 19
Chromosome location 19q13.2
Summary 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.
12
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602768 2909 ENSG00000090932
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DLL3-related disorder Likely pathogenic; Pathogenic rs1452482256 RCV003392559
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemivertebrae Pathogenic rs200275281 RCV001257369
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rib fusion Pathogenic rs200275281 RCV001257369
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondylocostal dysostosis 1, autosomal recessive Likely pathogenic; Pathogenic rs2079604821, rs2144761828, rs2514649158, rs786205519, rs786200900, rs777791545, rs786200902, rs104894675, rs786200903, rs104894676, rs888371213, rs1261285510, rs752277223, rs962071242, rs2514643690
View all (3 more)		 RCV001780936
RCV001806346
RCV002283621
RCV001328972
RCV000007231
View all (13 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (20)
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
ASTROCYTOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS — CTD, Orphanet
CTD, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITIES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (109)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30894499
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27196489
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma CTD_human_DG 21127729
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 12141422, 15122512, 21147753
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22190977 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30843783
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma CTD_human_DG 21127729
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive spondylocostal dysostosis Spondylocostal Dysostosis Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 16501043
★★★★★
★☆☆☆☆
Found in Text Mining only