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General Information
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22865632 | 2013 | Cell line : - Source : Steven F. Moss and Lelia Simao (Rhode Island Hospital, Providence, RI). Sample Type : CRC tumor No. of Sample : 31 Stage : - | real-time RT-PCR, immunoblotting and immunohistochemistry,methylation-specific PCR, bisulfite sequencing and pyrosequencing | Hypermethylation | - | Mechanistic studies revealed hypermethylation of EDN2 and EDN3 genes in human primary colon cancers, and in a panel of human colon cancer cell lines. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Endogenous ligands |
| Description | The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] |
| Chromosome | 20 |
| Location | 20q13.2-q1 |
| Start | 57875499 |
| End | 57901047 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 25549 |
| OMIM ID | 131242 |
| HGNC ID | HGNC:3178 |
| Unigene ID | Hs.1408 |
| Ensembl ID | ENSG00000124205 |
| PharmGKB ID | PA27616 |
mRNA Information
| mRNA ID | XM_005260312.3 |
|---|---|
| Exon | join(1..441,987..1299,20594..20770,21935..21994, 23904..25569) | mRNA Sequence | Download Select all |
| Length | 2678 |
Protein Information
| Protein ID | XP_005260369.1 |
|---|---|
| Protein Name | endothelin 3 |
| Molecular Wt. (Da) | 26819 |
| Protein Sequence | Download Select all |
| Length | 251 |
| Uniprot ID | P27169 |
| Ensembl Protein ID | ENSP00000222381 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| W | Proteolytic Cleavage | 117 |
| W | Proteolytic Cleavage | 117 |
| W | Proteolytic Cleavage | 117 |
| W | Proteolytic Cleavage | 117 |
| Y | Proteolytic Cleavage | 127 |
| Y | Proteolytic Cleavage | 127 |
| Y | Proteolytic Cleavage | 127 |
| Y | Proteolytic Cleavage | 127 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam00322 | 93-122 | Endothelin |
| cl23108 | 93-122 | Endothelin superfamily |
| smart00272 | 158-179 | END |
| cl23350 | 158-179 | END superfamily |
| smart00272 | 96-117 | END |
| cl23350 | 96-117 | END superfamily |
| PHA02659 | 91-117 | PHA02659 |
| PHA03418 | 24-87 | PHA03418 |
Ontology Information
| HPRD ID | 1369 |
|---|---|
| Molecular Class | Ligand |
| Molecular Function | Ligand-dependent nuclear receptor activity (GO:0004879) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.