What is Gene Ontology?
Gene Ontology is a collaborative network that assists in identifying consistent descriptions of gene products from different databases (1). Gene Ontology is organized into three components. 1-Biological Process: A series of molecular functions and events. 2- Cellular Component: parts of the cell and extracellular environment. 3- Molecular Function: activities performed by the individual gene products at the molecular level (2). These three components provide much information for a gene when it comes to understanding the genes function and location within the human body or any species of you’re choosing. |
Gene Ontology of FLNB:
I was interested in understanding more about the FLNB gene, specifically its functions and locations within the human body. I wanted to learn more about the normal FLNB gene to better understand the effects of what might be occurring in those with Larsen Syndrome that have a variation in the FLNB gene (3). I found the FLNB Gene Ontology terms on AmiGO by inputting FLNB and clicking on the "18 associations" link for the human species. Gene Ontology terms are also mentioned briefly on various datatbases such as UniProt and NCBI. Listed below are some interesting Gene Ontology terms that I found for the FLNB gene.
Biological Process: actin cytoskeleton organization, cytoskeletal anchoring at plasma membrane Cellular Component: actin cytoskeleton, cytoplasm, plasma membrane, focal adhesion Molecular Function: actin binding, protein binding |
Analysis:
Gene Ontology was a great tool for determining where the
FLNB was located and what its role was within the cell and body. By learning
that FLNB was involved in the actin cytoskeleton and in protein binding to the
plasma membrane, I was able to narrow my research. I discovered that FLNB is
involved in proper actin cytoskeleton binding and arrangement for the cell (4).
The actin cytoskeleton provides support for the cells structure. FLNB attaches
actin filaments to the plasma membrane to allow of cytoskeletal arrangement.
Knowing this lead to discovering which part of FLNB is involved with actin
filaments and which part with the plasma membrane (discussed in more detail at
FLNB Protein Domains). I was also able the learn that the abnormal FLNB gene
lead to an disorganized actin cytoskeleton of the cell which leads to
detrimental defects in large joints where cartilage needs to compact tightly
when undergoing ossification (4). This cannot be done well in patients with
Larsen Syndrome and leads to large joint dislocations.
References:
1.) "Gene Ontology: GO FAQ". Web. May 15, 2014. http://wiki.geneontology.org/index.php/GO_FAQ
2.) "EBI: What is GO?: What is the scope of GO". Web. Feb 25, 2014. http://www.ebi.ac.uk/training/online/course/go-quick-tour/what-go
3.) Kulkami, M.L., Basha, M.H., Hegade, S., Kumarasamy, T. A., and Kulkami, A. M. "Antenatal Diagnosis of Larsen Syndrome." Indian J Pediatrics. 77(7) 2010:819-20.
4.) "Genetics Home Reference: Larsen Syndrome". Web. January 26, 2014. http://ghr.nlm.nih.gov/condition/larsen-syndrome
2.) "EBI: What is GO?: What is the scope of GO". Web. Feb 25, 2014. http://www.ebi.ac.uk/training/online/course/go-quick-tour/what-go
3.) Kulkami, M.L., Basha, M.H., Hegade, S., Kumarasamy, T. A., and Kulkami, A. M. "Antenatal Diagnosis of Larsen Syndrome." Indian J Pediatrics. 77(7) 2010:819-20.
4.) "Genetics Home Reference: Larsen Syndrome". Web. January 26, 2014. http://ghr.nlm.nih.gov/condition/larsen-syndrome