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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54567
Gene name Gene Name - the full gene name approved by the HGNC.	Delta like canonical Notch ligand 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DLL4
Synonyms (NCBI Gene) Gene synonyms aliases	AOS6, delta4, hdelta2
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61750844	C>T	Pathogenic	Stop gained, coding sequence variant
rs796065344	C>T	Pathogenic	Coding sequence variant, stop gained
rs796065345	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs796065346	G>A	Pathogenic	Coding sequence variant, missense variant
rs796065347	T>C	Pathogenic	Coding sequence variant, missense variant
rs796065348	C>T	Pathogenic	Coding sequence variant, missense variant
rs796065349	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796065350	G>C	Pathogenic	Coding sequence variant, missense variant
rs796065351	T>C	Pathogenic	Coding sequence variant, missense variant
rs1247027543	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555393027	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393125	G>C	Pathogenic	Missense variant, coding sequence variant
rs1555393172	CGGACGACGGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393182	C>T	Pathogenic	Stop gained, coding sequence variant
rs1596194950	C>A	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054328	hsa-miR-30b-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23086751
MIRT054329	hsa-miR-30c-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23086751
MIRT491290	hsa-miR-3943	PAR-CLIP	23592263
MIRT491289	hsa-miR-345-3p	PAR-CLIP	23592263
MIRT491288	hsa-miR-1203	PAR-CLIP	23592263
MIRT491287	hsa-miR-6125	PAR-CLIP	23592263
MIRT491286	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT491285	hsa-miR-4313	PAR-CLIP	23592263
MIRT491284	hsa-miR-4533	PAR-CLIP	23592263
MIRT491283	hsa-miR-4743-5p	PAR-CLIP	23592263
MIRT733755	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blotting	31996265
MIRT733755	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blotting	31996265
MIRT733755	hsa-miR-182-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, Flow cytometry	31996265
MIRT054329	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization, ELISA	33861889
MIRT054329	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence, qRT-PCR, In situ hybridization, ELISA	33861889
MIRT491290	hsa-miR-3943	PAR-CLIP	23592263
MIRT491289	hsa-miR-345-3p	PAR-CLIP	23592263
MIRT491288	hsa-miR-1203	PAR-CLIP	23592263
MIRT491287	hsa-miR-6125	PAR-CLIP	23592263
MIRT491286	hsa-miR-1225-3p	PAR-CLIP	23592263
MIRT491285	hsa-miR-4313	PAR-CLIP	23592263
MIRT491284	hsa-miR-4533	PAR-CLIP	23592263
MIRT491283	hsa-miR-4743-5p	PAR-CLIP	23592263
MIRT938768	hsa-miR-1252	CLIP-seq
MIRT938769	hsa-miR-298	CLIP-seq
MIRT938770	hsa-miR-30a	CLIP-seq
MIRT938771	hsa-miR-30b	CLIP-seq
MIRT938772	hsa-miR-30c	CLIP-seq
MIRT938773	hsa-miR-30d	CLIP-seq
MIRT938774	hsa-miR-30e	CLIP-seq
MIRT938775	hsa-miR-4476	CLIP-seq
MIRT938776	hsa-miR-4495	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
SIRT1	Repression	20631301

Show/Hide all(69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	ISS
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0003180	Process	Aortic valve morphogenesis	IDA	26491108
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	ISS
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	23839946
GO:0005112	Function	Notch binding	TAS	10837024
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	24025447
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007154	Process	Cell communication	IEA
GO:0007165	Process	Signal transduction	TAS	10837024
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IDA	23839946
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	20616313
GO:0010596	Process	Negative regulation of endothelial cell migration	IMP	20616313
GO:0010628	Process	Positive regulation of gene expression	IDA	23839946
GO:0010628	Process	Positive regulation of gene expression	IDA	23388056, 26491108
GO:0010629	Process	Negative regulation of gene expression	IDA	23388056
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0035912	Process	Dorsal aorta morphogenesis	IEA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IMP	20616313
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IEA
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IDA	20616313
GO:0045746	Process	Negative regulation of Notch signaling pathway	IBA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	ISS
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0048018	Function	Receptor ligand activity	IDA	23839946
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0060579	Process	Ventral spinal cord interneuron fate commitment	IMP	17728344
GO:0061074	Process	Regulation of neural retina development	IEA
GO:0061074	Process	Regulation of neural retina development	ISS
GO:0072554	Process	Blood vessel lumenization	IEA
GO:0090051	Process	Negative regulation of cell migration involved in sprouting angiogenesis	IDA	23388056
GO:0090051	Process	Negative regulation of cell migration involved in sprouting angiogenesis	IMP	20616313
GO:1903588	Process	Negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	23388056
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	ISS

MIM	HGNC	e!Ensembl
605185	2910	ENSG00000128917

Protein

UniProt ID

Q9NR61

Protein name

Delta-like protein 4 (Drosophila Delta homolog 4) (Delta4)

Protein function

Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essen

PDB

5MVX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07657	MNNL	27 → 89	N terminus of Notch ligand	Family
PF01414	DSL	155 → 217	Delta serrate ligand	Domain
PF00008	EGF	281 → 320	EGF-like domain	Domain
PF00008	EGF	328 → 358	EGF-like domain	Domain
PF00008	EGF	366 → 398	EGF-like domain	Domain
PF12661	hEGF	411 → 432	Human growth factor-like EGF	Domain
PF00008	EGF	444 → 474	EGF-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in vascular endothelium.

Sequence

MAAASRSASGWALLLLVALWQQRAAGSGVFQLQLQEFINERGVLASGRPCEPGCRTFFRV
CLKHFQAVVSPGPCTFGTVSTPVLGTNSFAVRDDSSGGGRNPLQLPFNFTWPGTFSLIIE
AWHAPGDDLRPEALPPDALISKIAIQGSLAVGQNWLLDEQTSTLTRLRYSYRVICSDNYY
GDNCSRLCKKRNDHFGHYVCQPDGNLSCLPGWTGEYCQQPICLSGCHEQNGYCSKPAECL
CRPGWQGRLCNECIPHNGCRHGTCSTPWQCTCDEGWGGLFCDQDLNYCTHHSPCKNGATC
SNSGQRSYTCTCRPGYTGVDCELELSECDSNPCRNGGSCKDQEDGYHCLCPPGYYGLHCE
HSTLSCADSPCFNGGSCRERNQGANYACECPPNFTGSNCEKKVDRCTSNPCANGGQCLNR
GPSRMCRCRPGFTGTYCELHVSDCARNPCAHGGTCHDLENGLMCTCPAGFSGRRCEVRTS
IDACASSPCFNRATCYTDLSTDTFVCNCPYGFVGSRCEFPVGLPPSFPWVAVSLGVGLAV
LLVLLGMVAVAVRQLRLRRPDDGSREAMNNLSDFQKDNLIPAAQLKNTNQKKELEVDCGL
DKSNCGKQQNHTLDYNLAPGPLGRGTMPGKFPHSDKSLGEKAPLRLHSEKPECRISAICS
PRDSMYQSVCLISEERNECVIATEV

Sequence length

685

Interactions

View interactions

	KEGG		Reactome
	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation Pathways in cancer Chemical carcinogenesis - receptor activation Breast cancer		Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 HD Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus NOTCH3 Activation and Transmission of Signal to the Nucleus

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Adams-Oliver Syndrome	adams-oliver syndrome, adams-oliver syndrome 6	rs796065351, rs1555393125, rs796065347, rs1247027543, rs1555393182, rs796065346, rs1596194950, rs796065345, rs796065344, rs796065350, rs61750844, rs796065348, rs1555393027	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Aplasia Cutis Congenita	aplasia cutis congenita	N/A	N/A	GenCC
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (65)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adams Oliver syndrome	Associate	26299364, 29924900
Aortic Aneurysm Thoracic	Associate	23300792
Arthritis Rheumatoid	Associate	37796367
Biliary Atresia	Associate	32767570
Body Weight	Associate	24394305
Brain Edema	Associate	25121357
Breast Neoplasms	Associate	18681966, 20167860, 26472724, 27542210, 35953532, 36740988, 37993804
Carcinoma Adenoid Cystic	Associate	33469672
Carcinoma Hepatocellular	Associate	26443326, 30660174
Carcinoma Non Small Cell Lung	Associate	30593175
Carcinoma Pancreatic Ductal	Associate	25986715, 27755532
Carcinoma Renal Cell	Associate	23826258, 24931473
Castleman Disease	Associate	34686774
Colorectal Neoplasms	Associate	19844231, 26111775, 34487019
Death Sudden	Associate	34328347
Dissection Thoracic Aorta	Associate	23300792
Ectodermal Dysplasia	Associate	26299364
Edema	Associate	23787764
Endometrial Neoplasms	Associate	34564988
Familial cerebral cavernous malformation	Associate	23388056
Farber Lipogranulomatosis	Associate	20737536
Glioblastoma	Associate	23787764, 25121357, 26472724, 33249476
Glioma	Associate	21517260
Granuloma	Associate	24394305
Hand Foot and Mouth Disease	Stimulate	24939221
Heart Defects Congenital	Associate	34859965
Heart Failure	Associate	34328347
Hemangioma Cavernous Central Nervous System	Associate	23388056
Hereditary Breast and Ovarian Cancer Syndrome	Inhibit	27542210
Hyperplasia	Associate	26808710
Hypertrophy	Associate	26808710
Hypoxia	Stimulate	16219802, 19844231, 22275240, 35765115
Hypoxia	Associate	34666595
Hypoxia Brain	Associate	33249476, 36332389
Inflammatory Bowel Diseases	Associate	33436852
Inflammatory Breast Neoplasms	Associate	31145753
Leukemia Lymphocytic Chronic B Cell	Associate	20017807, 31616059
Li Fraumeni Syndrome	Associate	27542210
Lung Injury	Associate	32801053
Lung Neoplasms	Associate	26472724, 33787845
Lymphatic Metastasis	Associate	26111775, 30593175
Lymphatic Metastasis	Stimulate	26546434
Lymphoma B Cell	Associate	20017807
Lymphopenia	Associate	32556283
Neoplasm Metastasis	Associate	23826258, 24931473, 25957329, 26111775, 26241546, 26443326, 30593175
Neoplasm Metastasis	Stimulate	33469672, 34487019
Neoplasms	Associate	16219802, 19844231, 20737536, 23826258, 23898884, 24931473, 25121357, 25957329, 26111775, 26241546, 26472724, 27542210, 27755532, 30593175, 30660174 View all (6 more)
Obesity	Associate	34487019
Osteoglophonic dwarfism	Associate	37741572
Ovarian Neoplasms	Associate	37796700
Pancreatic Neoplasms	Associate	19258443, 27755532
Retinoblastoma	Associate	27661116
Ring Chromosome 20 Syndrome	Stimulate	37741572
Sarcoma Kaposi	Associate	19816565
Sick Sinus Syndrome	Associate	25986715
Stomach Neoplasms	Associate	23898884, 34410967, 34925644, 36071128
Tachycardia Atrioventricular Nodal Reentry	Associate	23898884
Thrombosis	Associate	26443326
Thyroid Cancer Papillary	Associate	26241546
Thyroid Neoplasms	Associate	26241546
Thyroiditis Subacute	Associate	24394305
Tuberculosis	Associate	32801053
Uterine Cervical Neoplasms	Associate	26546434, 36973995
Varicose Veins	Associate	26808710
Virus Diseases	Associate	19816565

DLL4 (delta like canonical Notch ligand 4)