Description: Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA. RefSeq Summary (NM_033440): Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]. Transcript (Including UTRs) Position: hg19 chr1:15,783,223-15,798,586 Size: 15,364 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr1:15,783,249-15,798,502 Size: 15,254 Coding Exon Count: 8
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CELA2A CDC HuGE Published Literature: CELA2A Positive Disease Associations: Erectile Dysfunction Related Studies:
Erectile Dysfunction Sarah L Kerns et al. International journal of radiation oncology, biology, physics 2010, Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer., International journal of radiation oncology, biology, physics.
[PubMed 20932654]
To our knowledge, this is the first genome-wide association study to identify SNPs associated with adverse effects resulting from radiotherapy. It is important to note that the SNP that proved to be significantly associated with ED is located within a gene whose encoded product plays a role in male gonad development and function. Another key finding of this project is that the four SNPs most strongly associated with ED were specific to persons of African ancestry and would therefore not have been identified had a cohort of European ancestry been screened. This study demonstrates the feasibility of a genome-wide approach to investigate genetic predisposition to radiation injury.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08217
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.