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This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with DLK1 include Temple Syndrome and Idiopathic Central Precocious Puberty. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PEAR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IDA | 7925474 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | TAS,IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030154 | cell differentiation | IEA | -- |
GO:0045746 | negative regulation of Notch signaling pathway | IDA | 25093684 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DLK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DLK1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dlk1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dlk1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | DLK 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DLK1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DLK1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DLK1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DLK1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dlk1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101883341 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | wry 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710044 | Benign: not provided | 100,734,347(+) | C/T | SYNONYMOUS_VARIANT | |
714523 | Benign: not provided | 100,734,177(+) | G/T | MISSENSE_VARIANT | |
714524 | Benign: not provided | 100,734,882(+) | G/C | MISSENSE_VARIANT | |
731627 | Benign: not provided | 100,728,427(+) | A/G | SYNONYMOUS_VARIANT | |
734936 | Likely Benign: not provided | 100,734,281(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2751158 | CNV | gain | 17911159 |
esv3635516 | CNV | gain | 21293372 |
nsv1425 | CNV | insertion | 18451855 |
nsv456428 | CNV | loss | 19166990 |
nsv470668 | CNV | loss | 18288195 |
nsv483116 | CNV | gain | 15286789 |
nsv521690 | CNV | loss | 19592680 |
nsv525723 | CNV | loss | 19592680 |
nsv565787 | CNV | loss | 21841781 |
nsv565858 | CNV | loss | 21841781 |
nsv832876 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
temple syndrome |
|
|
idiopathic central precocious puberty |
|
|
kagami-ogata syndrome |
|
|
uniparental disomy of chromosome 14 |
|
|
maternal uniparental disomy |
|
|