Human Gene CELA2A (uc001awk.3)
  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 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:15,783,223-15,798,586)mRNA (may differ from genome)Protein (269 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CEL2A_HUMAN
DESCRIPTION: RecName: Full=Chymotrypsin-like elastase family member 2A; EC=3.4.21.71; AltName: Full=Elastase-2A; Flags: Precursor;
FUNCTION: Acts upon elastin.
CATALYTIC ACTIVITY: Preferential cleavage: Leu-|-Xaa, Met-|-Xaa and Phe-|-Xaa. Hydrolyzes elastin.
SUBUNIT: Interacts with CPA1.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Pancreas. Not detected in keratinocytes.
SIMILARITY: Belongs to the peptidase S1 family. Elastase subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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:
  1. 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.

-  MalaCards Disease Associations
  MalaCards Gene Search: CELA2A
Diseases sorted by gene-association score: pancreatitis, hereditary (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4737.95 RPKM in Pancreas
Total median expression: 4750.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -0.1026-0.004 Picture PostScript Text
3' UTR -13.6084-0.162 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin
PF13365 - Trypsin-like peptidase domain

SCOP Domains:
50494 - Trypsin-like serine proteases

ModBase Predicted Comparative 3D Structure on P08217
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0017171 serine hydrolase activity

Biological Process:
GO:0006508 proteolysis
GO:0070268 cornification

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0036457 keratohyalin granule


-  Descriptions from all associated GenBank mRNAs
  BC069432 - Homo sapiens elastase 2A, mRNA (cDNA clone MGC:97063 IMAGE:7262275), complete cds.
BC069331 - Homo sapiens elastase 2A, mRNA (cDNA clone MGC:97041 IMAGE:7262251), complete cds.
BC007031 - Homo sapiens elastase 2A, mRNA (cDNA clone MGC:12394 IMAGE:3950124), complete cds.
E01220 - cDNA encoding human pancrea elastase II.
M16652 - Human pancreatic elastase IIA mRNA, complete cds.
AK312198 - Homo sapiens cDNA, FLJ92485, Homo sapiens elastase 2A (ELA2A), mRNA.
AK056678 - Homo sapiens cDNA FLJ32116 fis, clone PANCR1000081, highly similar to Elastase-2A precursor (EC 3.4.21.71).
M16631 - Human elastase 2 mRNA, complete cds.
D00236 - Homo sapiens mRNA for pancreatic elastase 2 precursor, complete cds.
HQ448449 - Synthetic construct Homo sapiens clone IMAGE:100071877; CCSB013905_01 elastase 2A (ELA2A) gene, encodes complete protein.
KJ894506 - Synthetic construct Homo sapiens clone ccsbBroadEn_03900 CELA2A gene, encodes complete protein.
KJ906290 - Synthetic construct Homo sapiens clone ccsbBroadEn_15960 CELA2A gene, encodes complete protein.
CR450291 - Homo sapiens full open reading frame cDNA clone RZPDo834B081D for gene ELA2A, elastase 2A; complete cds; without stopcodon.
JD287664 - Sequence 268688 from Patent EP1572962.
JD432047 - Sequence 413071 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_pepiPathway - Proepithelin Conversion to Epithelin and Wound Repair Control

Reactome (by CSHL, EBI, and GO)

Protein P08217 (Reactome details) participates in the following event(s):

R-HSA-8849857 KLK5 cleaves and activates CELA2
R-HSA-8934819 Cytoplasmic proteases cleave Profilaggrin producing Filaggrin
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5I4, CEL2A_HUMAN, ELA2A, NM_033440, NP_254275, P08217, Q14243
UCSC ID: uc001awk.3
RefSeq Accession: NM_033440
Protein: P08217 (aka CEL2A_HUMAN)
CCDS: CCDS157.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_033440.2
exon count: 8CDS single in 3' UTR: no RNA size: 934
ORF size: 810CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1820.00frame shift in genome: no % Coverage: 98.50
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.