This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by c... See more...

Aliases for ELN Gene

Aliases for ELN Gene

  • Elastin 2 3 4 5
  • Tropoelastin 2 3 4
  • Supravalvular Aortic Stenosis 2
  • Williams-Beuren Syndrome 2
  • ADCL1 3
  • SVAS 3
  • WBS 3
  • WS 3

External Ids for ELN Gene

Previous GeneCards Identifiers for ELN Gene

  • GC07P072082
  • GC07P072840
  • GC07P072854
  • GC07P072887
  • GC07P073080
  • GC07P073442
  • GC07P069326

Summaries for ELN Gene

Entrez Gene Summary for ELN Gene

  • This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. 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. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]

GeneCards Summary for ELN Gene

ELN (Elastin) is a Protein Coding gene. Diseases associated with ELN include Supravalvular Aortic Stenosis and Cutis Laxa, Autosomal Dominant 1. Among its related pathways are ERK Signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity.

UniProtKB/Swiss-Prot Summary for ELN Gene

  • Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).

Gene Wiki entry for ELN Gene

Additional gene information for ELN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELN Gene

Genomics for ELN Gene

GeneHancer (GH) Regulatory Elements for ELN Gene

Promoters and enhancers for ELN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J074026 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 502.8 +1.2 1224 5.4 CTCF USF1 TEAD4 ZIC2 REST MYC RAD21 TRIM22 EZH2 TEAD1 ELN JA662180 NONHSAG047951.2 ENSG00000261467 METTL27 CLIP2 lnc-RFC2-5 RF00017-6326
GH07J074096 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +71.6 71628 5.6 JUND FOS ZNF639 REST RELA CTBP1 BCL11A TCF12 CBFB SRF LIMK1 AB372643-010 ELN-AS1 ELN RF00017-6326
GH07J074091 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +66.1 66051 4.3 ZBTB40 ZSCAN5C TCF12 JUND TEAD4 FOS ZIC2 REST ZNF623 POLR2A LIMK1 ELN-AS1 ELN AB372643-010 RF00017-6326
GH07J073849 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -177.1 -177071 4.6 HNRNPK CTCF ZSCAN5C JUND FOS ZNF639 ZNF10 ZIC2 REST AFF1 METTL27 ELN BUD23 DNAJC30 VPS37D BCL7B piR-36100-014 lnc-METTL27-1 RF00017-6319
GH07J074061 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 12.6 +34.5 34463 1.4 ZSCAN5C NRF1 POLR2G JUND ZNF639 ZIC2 RFX1 ATF2 ZEB1 RBM25 ELN-AS1 ELN lnc-RFC2-5 NONHSAG047951.2 JA662180 RF00017-6326
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELN

Top Transcription factor binding sites by QIAGEN in the ELN gene promoter:
  • AP-2gamma
  • ATF-2
  • C/EBPbeta
  • FOXF2
  • MIF-1
  • MyoD
  • Pax-4a
  • RP58
  • TBP

Genomic Locations for ELN Gene

Genomic Locations for ELN Gene
chr7:74,027,772-74,069,907
(GRCh38/hg38)
Size:
42,136 bases
Orientation:
Plus strand
chr7:73,442,119-73,484,237
(GRCh37/hg19)
Size:
42,119 bases
Orientation:
Plus strand

Genomic View for ELN Gene

Genes around ELN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELN Gene

Proteins for ELN Gene

  • Protein details for ELN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15502-ELN_HUMAN
    Recommended name:
    Elastin
    Protein Accession:
    P15502
    Secondary Accessions:
    • B3KTS6
    • O15336
    • O15337
    • Q14233
    • Q14234
    • Q14235
    • Q14238
    • Q6P0L4
    • Q6ZWJ6
    • Q75MU5
    • Q7Z316
    • Q7Z3F5
    • Q9UMF5

    Protein attributes for ELN Gene

    Size:
    786 amino acids
    Molecular mass:
    68398 Da
    Quaternary structure:
    • The polymeric elastin chains are cross-linked together into an extensible 3D network. Forms a ternary complex with BGN and MFAP2. Interacts with MFAP2 via divalent cations (calcium > magnesium > manganese) in a dose-dependent and saturating manner. Interacts with FBLN5 (PubMed:15790312, PubMed:17035250). Interacts with FBN1 (PubMed:15790312). Forms a ternary complex with FBN1 and FBLN2 or FBLN5 (PubMed:17255108). Interacts with MFAP4 in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (By similarity).
    SequenceCaution:
    • Sequence=CAD98065.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ELN Gene

neXtProt entry for ELN Gene

Post-translational modifications for ELN Gene

  • Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross-links. The most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine.
  • Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ELN Gene

Domains & Families for ELN Gene

Gene Families for ELN Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ELN Gene

Blocks:
  • Bacterial transferase hexapeptide repeat
  • Tropoelastin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELN Gene

GenScript: Design optimal peptide antigens:
  • Elastin (A7L3I8_HUMAN)
  • cDNA FLJ34913 fis, clone NT2RP7000311, moderately similar to ELASTIN (B3KRT8_HUMAN)
  • Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA_b (D3DXF3_HUMAN)
  • Tropoelastin (ELN_HUMAN)
  • Elastin (Q9UME9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15502

UniProtKB/Swiss-Prot:

ELN_HUMAN :
  • Belongs to the elastin family.
Family:
  • Belongs to the elastin family.
genes like me logo Genes that share domains with ELN: view

Function for ELN Gene

Molecular function for ELN Gene

UniProtKB/Swiss-Prot Function:
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity).
GENATLAS Biochemistry:
elastin,expressed during third trimester of fetal development and early postnatal years,synthesized by the smooth muscle secreted as tropo-elastin,organized into insoluble polymers forming elastic lamellae around the arterial lumen

Phenotypes From GWAS Catalog for ELN Gene

Gene Ontology (GO) - Molecular Function for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS,RCA 25037231
GO:0005515 protein binding IPI 11805834
GO:0030023 extracellular matrix constituent conferring elasticity RCA 27559042
GO:0050840 extracellular matrix binding IEA --
genes like me logo Genes that share ontologies with ELN: view
genes like me logo Genes that share phenotypes with ELN: view

Human Phenotype Ontology for ELN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ELN Gene

Localization for ELN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELN Gene

Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers. {ECO:0000269 PubMed:17035250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELN gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 3
mitochondrion 3
nucleus 3
cytosol 3
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031012 extracellular matrix TAS 9580666
GO:0062023 collagen-containing extracellular matrix HDA 25037231
GO:0071953 elastic fiber IDA 7534784
genes like me logo Genes that share ontologies with ELN: view

Pathways & Interactions for ELN Gene

PathCards logo

SuperPathways for ELN Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Phospholipase-C Pathway
.56
.56
4 Collagen chain trimerization
5 Elastic fibre formation
genes like me logo Genes that share pathways with ELN: view

Pathways by source for ELN Gene

1 BioSystems pathway for ELN Gene
1 KEGG pathway for ELN Gene
1 GeneGo (Thomson Reuters) pathway for ELN Gene
  • Cell adhesion_Cell-matrix glycoconjugates
13 Qiagen pathways for ELN Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

SIGNOR curated interactions for ELN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003151 outflow tract morphogenesis IMP 8132745
GO:0003180 aortic valve morphogenesis IC 8132745
GO:0007519 skeletal muscle tissue development IEA --
GO:0007585 respiratory gaseous exchange TAS 9873040
GO:0008015 blood circulation TAS 8096434
genes like me logo Genes that share ontologies with ELN: view

Drugs & Compounds for ELN Gene

(54) Drugs for ELN Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rofecoxib Approved, Investigational, Withdrawn Pharma Inhibition, Inhibitor, Target, other/unknown COX-2 inhibitor 31
Magnesium Approved, Experimental, Investigational Pharma 0
Calcium Approved Nutra 7884
Manganese Approved Nutra 51
PRT-201 Pharma 0

(75) Additional Compounds for ELN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ELN: view

Transcripts for ELN Gene

mRNA/cDNA for ELN Gene

13 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
34 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELN

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELN Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - -
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:

ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d ^ 21 ^ 22a · 22b · 22c · 22d · 22e ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7:
SP8: - - -
SP9:
SP10: - - -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:

ExUns: 32 ^ 33 ^ 34 ^ 35
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for ELN Gene

GeneLoc Exon Structure for
ELN

Expression for ELN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELN Gene

mRNA differential expression in normal tissues according to GTEx for ELN Gene

This gene is overexpressed in Artery - Aorta (x14.2), Artery - Coronary (x7.2), and Artery - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for ELN Gene

This gene is overexpressed in Esophagus (18.3), Skin (10.4), Gallbladder (9.6), and Bone marrow mesenchymal stem cell (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELN Gene



Protein tissue co-expression partners for ELN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELN

SOURCE GeneReport for Unigene cluster for ELN Gene:

Hs.647061

mRNA Expression by UniProt/SwissProt for ELN Gene:

P15502-ELN_HUMAN
Tissue specificity: Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin.

Evidence on tissue expression from TISSUES for ELN Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Eye(4.4)
  • Lung(4.2)
  • Stomach(4.2)
  • Muscle(3.5)
  • Heart(3.3)
  • Blood(2.3)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ELN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ELN Gene

Orthologs for ELN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELN 31
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELN 31
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELN 31
  • 62 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eln 31
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELN 31
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELN 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELN 31
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELN 31
  • 52 (a)
OneToOne
Species where no ortholog for ELN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ELN Gene

ENSEMBL:
Gene Tree for ELN (if available)
TreeFam:
Gene Tree for ELN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ELN: view image

Paralogs for ELN Gene

No data available for Paralogs for ELN Gene

Variants for ELN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELN Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
636500 Uncertain Significance: not provided 74,048,137(+) T/G INTRON_VARIANT
636521 Uncertain Significance: not provided 74,060,370(+) C/T INTRON_VARIANT
636522 Uncertain Significance: not provided 74,057,645(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
636745 Uncertain Significance: not provided 74,056,436(+) G/A SPLICE_DONOR_VARIANT,INTRON_VARIANT
636774 Likely Pathogenic: not provided 74,053,212(+) AGTTGGTGTCCCAG/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for ELN Gene

Structural Variations from Database of Genomic Variants (DGV) for ELN Gene

Variant ID Type Subtype PubMed ID
esv3613696 CNV loss 21293372
nsv1075970 CNV deletion 25765185
nsv1119224 CNV duplication 24896259
nsv1126155 CNV deletion 24896259
nsv1146397 CNV deletion 26484159
nsv1146503 CNV duplication 26484159
nsv824162 CNV gain 20364138

Variation tolerance for ELN Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.81; 73.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ELN Gene

Human Gene Mutation Database (HGMD)
ELN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELN Gene

Disorders for ELN Gene

MalaCards: The human disease database

(131) MalaCards diseases for ELN Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ELN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELN_HUMAN
  • Cutis laxa, autosomal dominant, 1 (ADCL1) [MIM:123700]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. {ECO:0000269 PubMed:9873040}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Supravalvular aortic stenosis (SVAS) [MIM:185500]: Congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. {ECO:0000269 PubMed:10942104}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease (PubMed:8812460). {ECO:0000269 PubMed:8812460}.

Additional Disease Information for ELN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ELN: view

No data available for Genatlas for ELN Gene

Publications for ELN Gene

  1. Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm. (PMID: 15698546) Massart F … Brandi ML (The Journal of steroid biochemistry and molecular biology 2004) 3 23 41 54
  2. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. (PMID: 8096434) Curran ME … Keating MT (Cell 1993) 2 3 41 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PMID: 20673868) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 41 54

Products for ELN Gene

Sources for ELN Gene