Tissue expression of ELN - Summary - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

ELN

premium

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
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
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Distinct expression in connective tissue, fibroblasts and extracellular fibers.

DATA RELIABILITY
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.
Reliability score	Supported based on 3 antibodies. HPA018111 , HPA056941 , CAB010750
	SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

Cervix, uterine

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
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 83.38)
Entrez gene	2006
UniProt	P15502 (UniProt - Evidence at protein level)
neXtProt	NX_P15502
Antibodypedia	ELN antibodies

PROTEIN BROWSER

ELN-001	ELN-002	ELN-003	ELN-004	ELN-005	ELN-006	ELN-007	ELN-008	ELN-009	ELN-010	ELN-011	ELN-012	ELN-013	ELN-014	ELN-015	ELN-020	ELN-023	ELN-025	ELN-027	ELN-201	ELN-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ELN-001 ENSP00000313565 ENST00000320399	P15502 [Direct mapping] Elastin A7L3I8 [Target identity:100%; Query identity:100%] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	757 aa 66.1 kDa	Yes	0
ELN-002 ENSP00000252034 ENST00000252034	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	724 aa 62.6 kDa	Yes	0
ELN-003 ENSP00000389857 ENST00000445912	E7ENM0 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	706 aa 61.2 kDa	Yes	0
ELN-004 ENSP00000315607 ENST00000320492	G5E950 [Direct mapping] Elastin; Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA_h Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	643 aa 55.6 kDa	Yes	0
ELN-005 ENSP00000392575 ENST00000414324	G3V0G6 [Direct mapping] Elastin; Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA_e Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	700 aa 60.7 kDa	Yes	0
ELN-006 ENSP00000369936 ENST00000380562	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	730 aa 63.2 kDa	Yes	0
ELN-007 ENSP00000369949 ENST00000380575	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	677 aa 58.8 kDa	Yes	0
ELN-008 ENSP00000369958 ENST00000380584	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	658 aa 56.5 kDa	Yes	0
ELN-009 ENSP00000403162 ENST00000458204	E7EN65 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	714 aa 61.9 kDa	Yes	0
ELN-010 ENSP00000349540 ENST00000357036	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	711 aa 61.6 kDa	Yes	0
ELN-011 ENSP00000391129 ENST00000429192	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	692 aa 59.9 kDa	Yes	0
ELN-012 ENSP00000369926 ENST00000380553	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	570 aa 48.9 kDa	Yes	0
ELN-013 ENSP00000369950 ENST00000380576	P15502 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0007585 [respiratory gaseous exchange] GO:0008015 [blood circulation] GO:0008283 [cell proliferation] GO:0009887 [organ morphogenesis] GO:0022617 [extracellular matrix disassembly] GO:0030198 [extracellular matrix organization] GO:0071953 [elastic fiber] Show all	705 aa 61 kDa	Yes	0
ELN-014 ENSP00000394549 ENST00000431562	E7EQH8 [Direct mapping] Elastin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all		152 aa 13.8 kDa	Yes	0
ELN-015 ENSP00000406949 ENST00000438906	E7ETP7 [Direct mapping] Elastin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	294 aa 26.2 kDa	Yes	0
ELN-020 ENSP00000389206 ENST00000438880	E7EP82 [Direct mapping] Elastin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	168 aa 14.7 kDa	Yes	0
ELN-023 ENSP00000411092 ENST00000417091	E7ENW7 [Direct mapping] Elastin Show all	SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	214 aa 19.3 kDa	Yes	0
ELN-025 ENSP00000403961 ENST00000442310	E7EN51 [Direct mapping] Elastin Show all	Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	176 aa 15.7 kDa	Yes	0
ELN-027 ENSP00000399499 ENST00000428787	E7EWS8 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	167 aa 15.2 kDa	Yes	0
ELN-201 ENSP00000351807 ENST00000358929	F8WAH6 [Direct mapping] Elastin Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0001974 [blood vessel remodeling] GO:0005201 [extracellular matrix structural constituent] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0005615 [extracellular space] GO:0005739 [mitochondrion] GO:0007519 [skeletal muscle tissue development] GO:0007568 [aging] GO:0030023 [extracellular matrix constituent conferring elasticity] GO:0030198 [extracellular matrix organization] GO:0030833 [regulation of actin filament polymerization] GO:0031012 [extracellular matrix] GO:0035904 [aorta development] GO:0036270 [response to diuretic] GO:0043149 [stress fiber assembly] GO:0044344 [cellular response to fibroblast growth factor stimulus] GO:0050840 [extracellular matrix binding] GO:0055093 [response to hyperoxia] GO:0071280 [cellular response to copper ion] GO:0071298 [cellular response to L-ascorbic acid] GO:0071300 [cellular response to retinoic acid] GO:0071407 [cellular response to organic cyclic compound] GO:0071456 [cellular response to hypoxia] GO:0071549 [cellular response to dexamethasone stimulus] GO:0071560 [cellular response to transforming growth factor beta stimulus] GO:0071953 [elastic fiber] Show all	786 aa 68.4 kDa	Yes	0
ELN-202 ENSP00000480955 ENST00000621115	B3KRT8 [Direct mapping] Elastin; Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA_l; cDNA FLJ34913 fis, clone NT2RP7000311, moderately similar to ELASTIN Show all	MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005578 [proteinaceous extracellular matrix] Show all	617 aa 53.6 kDa	Yes	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.