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Gene : FBN3 Homo sapiens

Name  ? fibrillin 3 Cytological Location  19p13.2
Brief Description  fibrillin 3
Description  This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
  • synonyms:
  • uc002mjf.4,
  • HGNC:18794,
  • NM_032447,
  • OTTHUMG00000182462,
  • KIAA1776,
  • FBN3
  • identifiers:
  • 84467,
  • ENSG00000142449,
  • FBN3

Genome feature

Region: gene ? Length: 84191  
Location: 19:8065402-8149592 reverse strand Cyto location: 19p13.2


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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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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

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

Gene --> GO terms.

 

Other

746 SN Ps

5 Cross References

16 Data Sets

1 Homologues

0 Located Features

97 Rna Seq Results