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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 dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
DLL3 (Delta Like Canonical Notch Ligand 3) is a Protein Coding gene. Diseases associated with DLL3 include Spondylocostal Dysostosis 1, Autosomal Recessive and Spondylocostal Dysostosis, Autosomal Recessive. Among its related pathways are Notch Signaling Pathway (WikiPathways) and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include calcium ion binding and Notch binding. An important paralog of this gene is CD93.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005112 | Notch binding | NAS | 10742114 |
GO:0005509 | calcium ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 10742114 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Wnt / Hedgehog / Notch | ||
3 | Gastric cancer |
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4 | Glioma | ||
5 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA,IMP | 10742114 |
GO:0001756 | somitogenesis | IEA | -- |
GO:0007219 | Notch signaling pathway | IBA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007386 | compartment pattern specification | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DLL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DLL3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLL3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dll3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dll3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DLL3 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | wry 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
650393 | Uncertain Significance: not provided | 39,507,337(+) | T/G | MISSENSE_VARIANT | |
665177 | Uncertain Significance: not provided | 39,505,374(+) | G/T | MISSENSE_VARIANT | |
668476 | Likely Benign: not provided | 39,505,336(+) | G/A | SYNONYMOUS_VARIANT | |
672988 | Benign: not provided | 39,498,780(+) | C/A | ||
672989 | Likely Benign: not provided | 39,500,635(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1114009 | CNV | deletion | 24896259 |
nsv1127684 | CNV | deletion | 24896259 |
nsv523856 | CNV | loss | 19592680 |
nsv953573 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylocostal dysostosis 1, autosomal recessive |
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spondylocostal dysostosis, autosomal recessive |
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dysostosis |
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cascade stomach |
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leukodystrophy and acquired microcephaly with or without dystonia |
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