EDN3

GENERAL INFORMATION

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Gene name

EDN3

Gene description

Endothelin 3

Protein class

Disease related genes
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (duodenum, salivary gland, small intestine)
GTEx:Tissue enhanced (cervix, uterine, vagina)

Protein evidence

Evidence at protein level

Protein localization

Strong cytoplasmic positivity was observed in smooth muscles and myoepithelial cells in breast. Cardiac and skeletal myocytes showed moderate staining. Lung macrophages and intestinal tract exhibited moderate membranous positivity. Moderate nuclear staining was displayed by subset of non-germinal center cells and hematopoietic cells. Remaining normal tissues were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA057987
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Smooth muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (duodenum, salivary gland, small intestine)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cervix, uterine, vagina)

Organ

Expression



GENE INFORMATION

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Gene name

EDN3 (HGNC Symbol)

Synonyms

ET3

Description

Endothelin 3 (HGNC Symbol)

Entrez gene summary

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

Cytoband

q13.32

Chromosome location (bp)

59300427 - 59325992

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124205 (version 78.38)

Entrez gene

1908

UniProt

P14138 (UniProt - Evidence at protein level)

neXtProt

NX_P14138

Antibodypedia

EDN3 antibodies


PROTEIN BROWSER

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ENST00000311585
 
ENST00000337938
 
ENST00000371025
 
ENST00000371028
 
ENST00000395654
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EDN3-001 ENSP00000337128
ENST00000337938
P14138
Show all »
Show » Show » 238 25.5 Yes 0
EDN3-002 ENSP00000311854
ENST00000311585
P14138
Show all »
Show » Show » 219 23.6 Yes 0
EDN3-003 ENSP00000379015
ENST00000395654
P14138
Show all »
Show » Show » 224 23.9 Yes 0
EDN3-004 ENSP00000360064
ENST00000371025
Q4FAT2
Show all »
Show » Show » 192 20.6 Yes 0
EDN3-201 ENSP00000360067
ENST00000371028
P14138
Show all »
Show » Show » 238 25.5 Yes 0