FBN3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
FBN3
Official Name
fibrillin 3 [Source:HGNC Symbol;Acc:HGNC:18794]
Ensembl ID
ENSG00000142449
Bio databases IDs NCBI: 84467 Ensembl: ENSG00000142449
Aliases fibrillin 3
Synonyms fibrillin 3
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FBN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • TB domain
  • EGF domain
  • Fibrillin 1 unique N-terminal domain
  • Coagulation Factor Xa inhibitory site
  • EGF_CA

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • diabetic nephropathy
  • attention deficit hyperactivity disorder

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FBN3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • anatomical structure morphogenesis

Cellular Component

Where in the cell the gene product is active
  • microfibril
  • extracellular matrix
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • calcium ion binding
  • extracellular matrix structural constituent

Gene-Specific Assays for Results You Can Trust

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