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Gene : EMILIN1 Homo sapiens

Name  ? elastin microfibril interfacer 1 Cytological Location  2p23.3
Brief Description  elastin microfibril interfacer 1
Description  This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
  • synonyms:
  • gp115,
  • gp115,
  • OTTHUMG00000097069,
  • EMILIN1,
  • uc002rii.5,
  • EMILIN,
  • HGNC:19880,
  • EMI,
  • NM_007046,
  • DKFZp586M121,
  • AF088916
  • identifiers:
  • 11117,
  • ENSG00000138080,
  • EMILIN1

Genome feature

Region: gene ? Length: 7789  
Location: 2:27078615-27086403 Cyto location: 2p23.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

193 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results