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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] See more...
Aliases for DLL4 Gene
Aliases for DLL4 Gene
External Ids for DLL4 Gene
- HGNC: 2910
- NCBI Entrez Gene: 54567
- Ensembl: ENSG00000128917
- OMIM®: 605185
- UniProtKB/Swiss-Prot: Q9NR61
Previous GeneCards Identifiers for DLL4 Gene
- GC15P036589
- GC15P034117
- GC15P038800
- GC15P038937
- GC15P039008
- GC15P041221
- GC15P018070
Summaries for DLL4 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]
GeneCards Summary for DLL4 Gene
DLL4 (Delta Like Canonical Notch Ligand 4) is a Protein Coding gene. Diseases associated with DLL4 include Adams-Oliver Syndrome 6 and Adams-Oliver Syndrome. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is DLL1.
UniProtKB/Swiss-Prot Summary for DLL4 Gene
-
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). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344).
Additional gene information for DLL4 Gene
- HGNC (2910)
- NCBI Entrez Gene (54567)
- Ensembl (ENSG00000128917)
- OMIM® (605185)
- UniProtKB/Swiss-Prot (Q9NR61)
- Open Targets Platform(ENSG00000128917)
- Monarch Initiative
- Search for DLL4 at DataMed
- Search for DLL4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLL4 Gene
Genomics for DLL4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DLL4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DLL4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLL4
- Top Transcription factor binding sites by QIAGEN in the DLL4 gene promoter:
-
- ATF
- GATA-2
- HEN1
- Nkx2-5
- p53
- Pax-5
- STAT3
Genomic Locations for DLL4 Gene
Latest Assembly
- chr15:40,929,340-40,939,073
- (GRCh38/hg38)
- Size:
- 9,734 bases
- Orientation:
- Plus strand
Previous Assembly
- chr15:41,221,538-41,231,271
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 9,734 bases
- Orientation:
- Plus strand
- chr15:41,221,538-41,231,237
- (GRCh37/hg19 by Ensembl)
- Size:
- 9,700 bases
- Orientation:
- Plus strand
Genomic View for DLL4 Gene
Genes around DLL4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q15.1 by HGNC
- 15q15.1 by Entrez Gene
- 15q15.1 by Ensembl
DLL4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DLL4 Gene
Proteins for DLL4 Gene
-
Protein details for DLL4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NR61-DLL4_HUMAN
- Recommended name:
- Delta-like protein 4
- Protein Accession:
- Q9NR61
- Q3KP23
- Q9NQT9
Protein attributes for DLL4 Gene
- Size:
- 685 amino acids
- Molecular mass:
- 74605 Da
- Quaternary structure:
-
- Interacts with NOTCH4. Interacts (via N-terminal DSL and MNNL domains) with NOTCH1 (via EGF-like domains).
Protein Expression for DLL4 Gene
Post-translational modifications for DLL4 Gene
Other Protein References for DLL4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences DLL4 Antibody
-
Custom Antibody ServicesOriGene Antibodies for DLL4
- Novus Biologicals Antibodies for DLL4
-
Abcam antibodies for DLL4
- Invitrogen Antibodies for DLL4 (AFLGC-Dll4)
- antibodies-online: Show 63 available DLL4 Antibodies ranked by validation data
- Compare Top DLL4 Antibodies
-
Recommended
- 80 WB Antibodies (anti-human)
- 34 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 Func Antibodies (anti-human)
- 2 IHC Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 2 ICFC Antibodies (anti-human)
- 2 MA Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 35 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 8 FACS Antibodies (anti-mouse)
- 5 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 33 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for DLL4
- Sino Biological Antibodies for DLL4
Protein products for research
- G Biosciences Human DLL4, Lyophilized
-
OriGene Purified Proteins for DLL4
- Search Origene for MassSpec and Protein Over-expression Lysates for DLL4
- Origene Custom Protein Services for DLL4
- Novus Biologicals proteins for DLL4
- Sino Biological Recombinant Proteins for DLL4
- Sino Biological Cell Lysates for DLL4
-
Abcam proteins for DLL4
Assay products for research
- G Biosciences Immunotag™ Delta-like protein 4 ELISA Kit
- antibodies-online: Show 28 available DLL4 Elisa Kits ranked by validation data
- Compare Top DLL4 Elisa Kits
-
Quality Products:
- ABIN2691113
- ABIN813629
- ABIN423855
- ABIN1569431
- ABIN5520395
- ABIN5591966
- ABIN5653612
- ABIN2543771
- ABIN4968698
- ABIN6203724
- ABIN2691114
- ABIN1889419
- ABIN2708498
- ABIN2684059
- ABIN813630
- ABIN6384468
- ABIN4885486
- ABIN6720083
- ABIN6203725
- ABIN1129400
- ABIN437735
- ABIN1569432
- ABIN5510727
- ABIN5653613
- ABIN2543772
- ABIN6203726
-
Abcam assays for DLL4
- Sino Biological Assays for DLL4
No data available for DME Specific Peptides for DLL4 Gene
Domains & Families for DLL4 Gene
Gene Families for DLL4 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for DLL4 Gene
- InterPro:
- Blocks:
-
- Aspartic acid and asparagine hydroxylation site
- Delta/Serrate/lag-2 (DSL) protein
- EGF-like calcium-binding
- Notch ligand, N-terminal
- EGF, extracellular
- ProtoNet:
Suggested Antigen Peptide Sequences for DLL4 Gene
- GenScript: Design optimal peptide antigens:
-
- Drosophila Delta homolog 4 (DLL4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NR61UniProtKB/Swiss-Prot:
DLL4_HUMAN :- The Delta-Serrate-Lag2 (DSL) domain is required for binding to the Notch receptor.
- Domain:
-
- The Delta-Serrate-Lag2 (DSL) domain is required for binding to the Notch receptor.
Function for DLL4 Gene
Molecular function for DLL4 Gene
- UniProtKB/Swiss-Prot 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). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344).
LifeMap Function Summary for DLL4 Gene
During embryonic development, DLL4 as signaling molecule is secreted from the following cells
- Eye
- Endothelium
It affects the following cells:
- Endothelium
Phenotypes From GWAS Catalog for DLL4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005112 | Notch binding | TAS,IBA | 21873635 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 24025447 |
Phenotypes for DLL4 Gene
- MGI mutant phenotypes for DLL4:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for DLL4:
Animal Models for DLL4 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DLL4 - Starting at $85 >
- * DLL4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DLL4
-
Santa Cruz Biotechnology (SCBT) CRISPR for DLL4
miRNA for DLL4 Gene
- miRTarBase miRNAs that target DLL4
-
- mmu-miR-15a-5p (MIRT011781)
- hsa-miR-30b-5p (MIRT054328)
- hsa-miR-30c-5p (MIRT054329)
- dre-miR-30a-5p (MIRT437438)
- hsa-miR-4743-5p (MIRT491283)
- hsa-miR-4533 (MIRT491284)
- hsa-miR-4313 (MIRT491285)
- hsa-miR-1225-3p (MIRT491286)
- hsa-miR-6125 (MIRT491287)
- hsa-miR-1203 (MIRT491288)
- hsa-miR-345-3p (MIRT491289)
- hsa-miR-3943 (MIRT491290)
- hsa-miR-130a-3p (MIRT732639)
- rno-miR-130a-3p (MIRT732640)
- hsa-miR-125a-5p (MIRT732710)
- mmu-miR-30e-5p (MIRT732757)
- hsa-miR-296-5p (MIRT734908)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DLL4
- Browse OriGene Inhibitory RNA Products For DLL4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLL4
Clone products for research
- Applied Biological Materials (abm): Clones for DLL4 - Starting at $45 >
- * DLL4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DLL4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DLL4
Cell Lines for research
-
Horizon Cell Lines for DLL4
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLL4 Gene
Localization for DLL4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DLL4 Gene
- Cell membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 3 |
| nucleus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DLL4 Gene
Pathways & Interactions for DLL4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 3 | Notch Signaling Pathway (WikiPathways) | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | Angiogenesis (CST) | ||
Pathways by source for DLL4 Gene
6 BioSystems pathways for DLL4 Gene
19 Reactome pathways for DLL4 Gene
5 KEGG pathways for DLL4 Gene
1 GeneGo (Thomson Reuters) pathway for DLL4 Gene
- Development Notch Signaling Pathway
1 R&D Systems pathway for DLL4 Gene
2 Cell Signaling Technology pathways for DLL4 Gene
2 GeneTex pathways for DLL4 Gene
Interacting Proteins for DLL4 Gene
Selected Interacting proteins:
Q9NR61-DLL4_HUMAN
ENSP00000249749
for DLL4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DLL4
SIGNOR curated interactions for DLL4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
| GO:0001525 | angiogenesis | ISS | -- |
| GO:0001569 | branching involved in blood vessel morphogenesis | IEA,ISS | -- |
| GO:0001974 | blood vessel remodeling | IEA,ISS | -- |
| GO:0003180 | aortic valve morphogenesis | IC | 26491108 |
Drugs & Compounds for DLL4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Nicotinamide | Approved, Investigational | Pharma | 466,466 | |||
| Niacin | Approved, Investigational | Nutra | 471,471 | |||
| Irinotecan | Approved, Investigational | Pharma | Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 1482 | ||
| Paclitaxel | Approved, Vet_approved | Pharma | Tubulin and Bcl2 inhibitor, Taxanes | 3927 | ||
| Folic acid | Approved, Vet_approved | Nutra | 4954 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug products for research
- G Biosciences Human DLL4, Lyophilized
Transcripts for DLL4 Gene
mRNA/cDNA for DLL4 Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000249749 3426 nts (view in UCSC)
- ENST00000557876 1439 nts (view in UCSC)
- ENST00000559440 1273 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DLL4 - Starting at $85 >
- * DLL4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DLL4
-
Santa Cruz Biotechnology (SCBT) CRISPR for DLL4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DLL4
- Browse OriGene Inhibitory RNA Products For DLL4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLL4
Clone products for research
- Applied Biological Materials (abm): Clones for DLL4 - Starting at $45 >
- * DLL4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DLL4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DLL4
Relevant External Links for DLL4 Gene
- GeneLoc Exon Structure for
- DLL4
Expression for DLL4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Heart (Cardiovascular System)
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Angioblasts Embryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Angioblasts Embryonic Capillary Plexus
-
Primitive Streak (Early Embryonic Tissues)
- Notochord Cells Notochord
-
Cartilage (Muscoskeletal System)
- Notochord Cells Notochord
-
Dermis (Integumentary System)
- Dermal Fibroblasts Dorsal Dermis
-
Fibroblasts
- Dermal Fibroblasts Dorsal Dermis
-
Lung (Respiratory System)
This gene is overexpressed in Fetal gut (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DLL4 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLL4
SOURCE GeneReport for Unigene cluster for DLL4 Gene:
Hs.511076mRNA Expression by UniProt/SwissProt for DLL4 Gene:
Q9NR61-DLL4_HUMAN
Tissue specificity:
Expressed in vascular endothelium.
Evidence on tissue expression from TISSUES for DLL4 Gene
- Nervous system(4.5)
- Heart(2.9)
- Bone marrow(2.7)
- Muscle(2.5)
- Liver(2.5)
- Lung(2.5)
- Kidney(2.5)
- Intestine(2.3)
- Blood(2.3)
- Spleen(2.3)
- Eye(2.2)
- Lymph node(2.2)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DLL4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- outer ear
- scalp
- skull
Thorax:
- aorta
- breast
- chest wall
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for DLL4
-
OriGene qPCR primer pairs and template standards for DLL4
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for DLL4 Gene
Orthologs for DLL4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DLL4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DLL4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DLL4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dll4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Dll4 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DLL4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DLL4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DLL4 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DLL4 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dll4 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dll4 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15388 32 |
|
|
|
| C901 32 |
|
|
|||
| Dl 31 32 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | apx-1 32 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7799 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for DLL4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for DLL4 Gene
- ENSEMBL:
- Gene Tree for DLL4 (if available)
- TreeFam:
- Gene Tree for DLL4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DLL4: view image
Paralogs for DLL4 Gene
Variants for DLL4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLL4 Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 929444 | Pathogenic: Adams-Oliver syndrome 6 | 40,936,837(+) |
TGGCCCCAG/T NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs) |
FRAMESHIFT | |
| 981059 | Uncertain Significance: not specified | 40,936,323(+) |
C/A NM_019074.4(DLL4):c.1336C>A (p.Arg446Ser) |
MISSENSE | |
| rs1247027543 | Pathogenic: Adams-Oliver syndrome 6 | 40,936,384(+) |
G/A NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) |
MISSENSE | |
| rs139491690 | Likely Benign: not provided | 40,932,340(+) |
G/A NM_019074.4(DLL4):c.743G>A (p.Arg248Gln) |
MISSENSE | |
| rs1468519974 | Likely Benign: not provided | 40,931,607(+) |
C/T NM_019074.4(DLL4):c.499C>T (p.Leu167=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.25;
24.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DLL4 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLL4 Gene
Disorders for DLL4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adams-oliver syndrome 6 |
|
|
| adams-oliver syndrome |
|
|
| adams-oliver syndrome 1 |
|
|
| aplasia cutis congenita, nonsyndromic |
|
|
| oliver syndrome |
|
|
Search DLL4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DLL4_HUMAN- Adams-Oliver syndrome 6 (AOS6) [MIM:616589]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269 PubMed:26299364}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for DLL4
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for DLL4 Gene
Publications for DLL4 Gene
- Dll4, a novel Notch ligand expressed in arterial endothelium. (PMID: 10837024) Shutter JR … Stark KL (Genes & development 2000) 2 3 4 23
- Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. (PMID: 26299364) Meester JA … Wuyts W (American journal of human genetics 2015) 3 4 74
- Integrin cytoplasmic domain-associated protein-1 attenuates sprouting angiogenesis. (PMID: 20616313) Brütsch R … Fischer A (Circulation research 2010) 3 4
- [Influence of Delta-like ligand 4/Notch signal transduction pathway upon the biological behavior of human umbilical vein endothelial cells]. (PMID: 20193271) Chen L … Li T (Zhonghua yi xue za zhi 2009) 3 23
- Regulation of CXCR4 by the Notch ligand delta-like 4 in endothelial cells. (PMID: 18339870) Williams CK … Harris AL (Cancer research 2008) 3 23
ExternalLinks
Products for DLL4 Gene
- Custom Antibody ServicesOriGene Antibodies for DLL4
- Custom Assay Services
- OriGene Purified Proteins for DLL4
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- OriGene qPCR primer pairs and template standards for DLL4
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- Invitrogen Antibodies for DLL4 (AFLGC-Dll4)
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- antibodies-online: Show 63 available DLL4 Antibodies ranked by validation data
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- 80 WB Antibodies (anti-human)
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- 35 WB Antibodies (anti-mouse)
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- 5 IHC Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 33 WB Antibodies (anti-rat)
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- antibodies-online: Show 28 available DLL4 Elisa Kits ranked by validation data
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- ABIN2691113
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- antibodies-online: Show 35 available DLL4 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for DLL4
- Search Santa Cruz Biotechnology (SCBT) for DLL4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DLL4
- Horizon Cell Lines for DLL4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DLL4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DLL4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for DLL4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLL4
Sources for DLL4 Gene
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