CFTR+Gene

__Where is the CFTR Gene Located? __
The CFTR gene is located on the long arm of chromosome 7, at position 31.2. More precisely, this gene is located from base pair 117,478,340 to base pair 117,668,665. 


 * Figure 4A. **CFTR Gene on Chromsome 7 in Human from HapMap. (Image retrieved from [|HapMap]).


 * Figure 4A **shows the CFTR gene highlighted in yellow on chromosome 7. The CFTR gene is fairly large at about 1,480 amino acids long and exists in various types of tissue within the body. Since this gene is so large, variation exists in a great amount. **Figure 4B** depicts the genotyped Single Nucleotide Polymorphisms (SNP), the most common form of gene variation in humans. Each triangle represents a SNP at various locations of the gene, ("HapMap," 2016).


 * Figure 4B. **Genotyped SNP Data of the CFTR Gene in Human. (Image retrieved from [|HapMap] ).

The CFTR gene is located upstream from an ATP-binding cassette membrane and downstream from a ABC transporter, which is shown in **Figure 4C**. Again, this gene location is relative to the human and will vary when viewing other species, ("The Pfam Protein," 2016). Other species' gene location can be viewed on the parsimony tree in the comparative genomics link.


 * Figure 4C. **Location of Gene Relative to Other Regions in Human. (Image retrieved from [|Pfam]).

__<span style="font-family: 'Times New Roman',Times,serif;">Phenotypes of CFTR Gene __
<span style="font-family: 'Times New Roman',Times,serif;">Every person inherits two copies of the CFTR gene. A person who inherits two copies of the CFTR gene with a harmful mutation will have cystic fibrosis. Those with only a single working copy will be cystic fibrosis carriers and will typically experience no symptoms and lead a normal life. However, those that carrier two mutated copies can experience various phenotypes that are associated with the CFTR gene.

<span style="font-family: 'Times New Roman',Times,serif;">There are 12 known phenotypes resulting from the many variants of the CFTR gene. This phenotypes were found using Ensembl.


 * <span style="font-family: 'Times New Roman',Times,serif; line-height: 1.5;">[[image:Screen Shot 2016-02-28 at 5.10.09 PM.png width="228" align="left"]] Chloride Channel Activity
 * <span style="font-family: Times New Roman,Times,serif;">Chloride transmembrane transport
 * <span style="font-family: Times New Roman,Times,serif;">Congenital bilateral absence of vas deferens
 * <span style="font-family: Times New Roman,Times,serif;">Cystic Fibrosis
 * <span style="font-family: Times New Roman,Times,serif;">Cystic Fibrosis
 * <span style="font-family: Times New Roman,Times,serif;">Hereditary chronic pancreatitis
 * <span style="font-family: Times New Roman,Times,serif;">Idiopathic bronchiectasis
 * <span style="font-family: Times New Roman,Times,serif;">Male infertility with azoospermia or oligozoospermia due to single gene mutation
 * <span style="font-family: Times New Roman,Times,serif;">Positive regulation of cyclic nucleotide-gated ion channel activity
 * <span style="font-family: Times New Roman,Times,serif;">Positive regulation of exocytosis
 * <span style="font-family: Times New Roman,Times,serif;"> Positive regulation of insulin secretion involved in cellular response to glucose stimulus
 * <span style="font-family: Times New Roman,Times,serif;"> VAS DEFERENS CONGENITAL BILATERAL APLASIA OF
 * <span style="font-family: 'Times New Roman',Times,serif; line-height: 1.5;">Figure 5. ** <span style="font-family: 'Times New Roman',Times,serif;">CFTR Gene Expression. (Image retrieved from [|Ensembl]//).//

<span style="font-family: 'Times New Roman',Times,serif;">There are many phenotypes that result from different variants of the CFTR gene. **<span style="font-family: 'Times New Roman',Times,serif;">Figure 2A **<span style="font-family: 'Times New Roman',Times,serif;">shows a visual form of what organs of the male and female body the CFTR gene is expressed in. This data was collected from various experiments that have been conducted on the CFTR gene and put together by Ensembl, (Flieck, <span style="font-family: 'Times New Roman',Times,serif;"> et al., 2014).

<span style="font-family: 'Times New Roman',Times,serif;">Next: Comparative Genomics

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