Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs777791545	GACCCGTGCGCCGCGCG>-,GACCCGTGCGCCGCGCGGACCCGTGCGCCGCGCG	Pathogenic	Frameshift variant, coding sequence variant
rs786200899	->GCGGT	Pathogenic	Frameshift variant, coding sequence variant
rs786200900	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs786200902	C>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs786200903	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205519	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1447189148	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, stop gained

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
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007386	Process	Compartment pattern specification	IEA
GO:0009888	Process	Tissue development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10742114
GO:0030154	Process	Cell differentiation	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IBA
GO:0048339	Process	Paraxial mesoderm development	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA

MIM	HGNC	e!Ensembl
602768	2909	ENSG00000090932

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

	KEGG
	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation Pathways in cancer Chemical carcinogenesis - receptor activation Breast cancer

212

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DLL3-related disorder	Likely pathogenic; Pathogenic	rs1452482256	RCV003392559
Hemivertebrae	Pathogenic	rs200275281	RCV001257369
Rib fusion	Pathogenic	rs200275281	RCV001257369
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 RCV000007233 RCV000007234 RCV000007235 RCV000007236 RCV000007237 RCV003314120 RCV003314121 RCV005030097 RCV005014855 RCV003990878 RCV001782964 RCV000677675 RCV003485641

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Melanoma	Uncertain significance	rs759482385	RCV005869505
Spondylocostal dysostosis	Uncertain significance	rs747003629	RCV000399215
Syndactyly	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs373980582, rs8106337, rs2304214, rs191149379, rs116099821, rs113780398, rs145191532, rs146274789, rs886054432, rs150100958, rs886054434, rs747003629, rs768310008, rs192624990, rs530857183 View all (48 more)	RCV001130371 RCV000381844 RCV000402155 RCV000342498 RCV000377077 RCV001134044 RCV001134170 RCV000371101 RCV000337145 RCV000302225 RCV000288596 RCV000304748 RCV000364579 RCV000333581 RCV000270632 RCV000331004 RCV000315685 RCV000347014 RCV000394873 RCV000373915 RCV000315473 RCV001134169 RCV001134172 RCV001131317 RCV001128678 RCV001130471 RCV000361236 RCV000375159 RCV001135896 RCV001130368 RCV001131083 RCV001134424 RCV001134302 RCV001128791 RCV001131086 RCV001130369 RCV001131084 RCV001131087 RCV001134045 RCV001135535 RCV001135538 RCV001130469 RCV001131204 RCV001135669 RCV001135671 RCV001128676 RCV001128679 RCV001131318 RCV001134299 RCV001134303 RCV001134305 RCV001135781 RCV001135783 RCV001128788 RCV001128789 RCV001131440 RCV001131442 RCV001131445 RCV001135898 RCV001128888 RCV001128891 RCV001131203 RCV001135667 RCV001134426

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Drug Related Side Effects and Adverse Reactions	Associate	34184566
Dysostoses	Associate	12746394
Glioma	Inhibit	20838435
Glioma	Associate	30397180, 35124175
Growth Hormone Secreting Pituitary Adenoma	Associate	28705113
Hepatitis B	Inhibit	29555949
Jarcho Levin syndrome	Associate	12746394, 15122512
Melanoma Cutaneous Malignant	Associate	36173063
Nasopharyngeal Carcinoma	Associate	31289279
Neoplasms	Associate	26637806, 31109352, 32691982, 32745892, 36689692, 37731022, 39423775
Neuroblastoma	Associate	36381237, 38035110
Neuroendocrine Tumors	Associate	31369178, 33011388, 36121500
Ovarian Neoplasms	Associate	37796700
Pancreatic Neoplasms	Associate	19258443
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	8219197
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	8219197
Schizophrenia	Stimulate	19805229
Scoliosis	Associate	27472720
Small Cell Lung Carcinoma	Associate	31109352, 31412616, 32745892, 33011388, 33104707, 36689692, 37731022, 38126617, 39392394, 40107154
Spondylocostal dysostosis autosomal recessive	Associate	15122512
Stomach Neoplasms	Associate	31369178, 34925644, 36071128
Thrombosis	Associate	26443326
Triple Negative Breast Neoplasms	Associate	34184566
Virus Diseases	Inhibit	29555949
Wilms Tumor	Stimulate	36381237

DLL3 (delta like canonical Notch ligand 3)