ELN

GENERAL INFORMATION

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Gene name

ELN

Gene description

Elastin

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

21
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Distinct expression in connective tissue, fibroblasts and extracellular fibers.

ANTIBODY RELIABILITY

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Data reliability
description

Secreted protein, tissue location of RNA and protein might differ and correlation is complex. Antibody staining in cells/structures not annotated, view images.

Data reliability

Supportive based on 3 antibodies.
HPA018111 , HPA056941 , CAB010750
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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

Liver

Colon

Kidney

Testis

Cervix, uterine



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ELN (HGNC Symbol)

Synonyms

SVAS, WBS, WS

Description

Elastin (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

7

Cytoband

q11.23

Chromosome location (bp)

74027789 - 74069907

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000049540 (version 78.38)

Entrez gene

2006

UniProt

P15502 (UniProt - Evidence at protein level)

neXtProt

NX_P15502

Antibodypedia

ELN antibodies


PROTEIN BROWSER

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ENST00000252034
 
ENST00000320399
 
ENST00000320492
 
ENST00000357036
 
ENST00000358929
 
ENST00000380553
 
ENST00000380562
 
ENST00000380575
 
ENST00000380576
 
ENST00000380584
 
ENST00000414324
 
ENST00000417091
 
ENST00000428787
 
ENST00000429192
 
ENST00000431562
 
ENST00000438880
 
ENST00000438906
 
ENST00000442310
 
ENST00000445912
 
ENST00000458204
 
ENST00000621115
 
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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)

ELN-001 ENSP00000313565
ENST00000320399
P15502
Show all »
Show » Show » 757 66.1 Yes 0
ELN-002 ENSP00000252034
ENST00000252034
P15502
Show all »
Show » Show » 724 62.6 Yes 0
ELN-003 ENSP00000389857
ENST00000445912
E7ENM0
Show all »
Show » Show » 706 61.2 Yes 0
ELN-004 ENSP00000315607
ENST00000320492
G5E950
Show all »
Show » Show » 643 55.6 Yes 0
ELN-005 ENSP00000392575
ENST00000414324
G3V0G6
Show all »
Show » Show » 700 60.7 Yes 0
ELN-006 ENSP00000369936
ENST00000380562
P15502
Show all »
Show » Show » 730 63.2 Yes 0
ELN-007 ENSP00000369949
ENST00000380575
P15502
Show all »
Show » Show » 677 58.8 Yes 0
ELN-008 ENSP00000369958
ENST00000380584
P15502
Show all »
Show » Show » 658 56.5 Yes 0
ELN-009 ENSP00000403162
ENST00000458204
E7EN65
Show all »
Show » Show » 714 61.9 Yes 0
ELN-010 ENSP00000349540
ENST00000357036
P15502
Show all »
Show » Show » 711 61.6 Yes 0
ELN-011 ENSP00000391129
ENST00000429192
P15502
Show all »
Show » Show » 692 59.9 Yes 0
ELN-012 ENSP00000369926
ENST00000380553
P15502
Show all »
Show » Show » 570 48.9 Yes 0
ELN-013 ENSP00000369950
ENST00000380576
P15502
Show all »
Show » Show » 705 61 Yes 0
ELN-014 ENSP00000394549
ENST00000431562
E7EQH8
Show all »
Show » 152 13.8 Yes 0
ELN-015 ENSP00000406949
ENST00000438906
E7ETP7
Show all »
Show » Show » 294 26.2 Yes 0
ELN-020 ENSP00000389206
ENST00000438880
E7EP82
Show all »
Show » Show » 168 14.7 Yes 0
ELN-023 ENSP00000411092
ENST00000417091
E7ENW7
Show all »
Show » Show » 214 19.3 Yes 0
ELN-025 ENSP00000403961
ENST00000442310
E7EN51
Show all »
Show » Show » 176 15.7 Yes 0
ELN-027 ENSP00000399499
ENST00000428787
E7EWS8
Show all »
Show » Show » 167 15.2 Yes 0
ELN-201 ENSP00000351807
ENST00000358929
F8WAH6
Show all »
Show » Show » 786 68.4 Yes 0
ELN-202 ENSP00000480955
ENST00000621115
B3KRT8
Show all »
Show » 617 53.6 Yes 0