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Gene : ECM1 Homo sapiens

Name  ? extracellular matrix protein 1 Cytological Location  1q21.2
Brief Description  extracellular matrix protein 1
Description  This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
  • synonyms:
  • uc001eus.4,
  • NM_004425,
  • U68186,
  • ECM1,
  • URBWD,
  • OTTHUMG00000012806,
  • HGNC:3153
  • identifiers:
  • 1893,
  • ENSG00000143369,
  • ECM1

Genome feature

Region: gene ? Length: 5681  
Location: 1:150508109-150513789 Cyto location: 1q21.2


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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

1 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

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results