EDN1 gene

endothelin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

From UniProt:

Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (PubMed:19086031).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Question mark ears, isolated
  • Auriculocondylar syndrome 3

From UniProt:

Question mark ears, isolated (QME): An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. [MIM:612798]

Auriculocondylar syndrome 3 (ARCND3): A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. [MIM:615706]

Cytogenetic Location: 6p24.1, which is the short (p) arm of chromosome 6 at position 24.1

Molecular Location: base pairs 12,256,463 to 12,297,194 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 6p24.1, which is the short (p) arm of chromosome 6 at position 24.1
  • ARCND3
  • ET1
  • HDLCQ7
  • PPET1
  • QME