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CELA2A Gene

protein-coding   GIFtS: 54
GCID: GC01P015783

Chymotrypsin-Like Elastase Family, Member 2A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chymotrypsin-Like Elastase Family, Member 2A1 2     elastase-2A2
ELA2A2 3 5     Pancreatic Elastase 22
Elastase 2A1 2     Pancreatic Elastase IIA2
EC 3.4.21.713 8     Elastase-2A3
PE-12     EC 3.4.218
Chymotrypsin-Like Elastase Family Member 2A2     

External Ids:    HGNC: 246091   Entrez Gene: 630362   Ensembl: ENSG000001426157   OMIM: 6094435   UniProtKB: P082173   

Export aliases for CELA2A gene to outside databases

Previous GC identifers: GC01P015657 GC01P014303


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CELA2A Gene:
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)

GeneCards Summary for CELA2A Gene:
CELA2A (chymotrypsin-like elastase family, member 2A) is a protein-coding gene. Diseases associated with CELA2A include pancreatitis, and acute pancreatitis. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is CTRL.

UniProtKB/Swiss-Prot: CEL2A_HUMAN, P08217
Function: Acts upon elastin

Gene Wiki entry for CELA2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CELA2A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCELA2A promoter sequence
   Search Chromatin IP Primers for CELA2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CELA2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.21   Ensembl cytogenetic band:  1p36.21   HGNC cytogenetic band: 1p36.21

CELA2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELA2A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P015783:  view genomic region     (about GC identifiers)

Start:
15,783,223 bp from pter      End:
15,798,586 bp from pter
Size:
15,364 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CEL2A_HUMAN, P08217 (See protein sequence)
Recommended Name: Chymotrypsin-like elastase family member 2A precursor  
Size: 269 amino acids; 28888 Da
Subunit: Interacts with CPA1
Secondary accessions: B2R5I4 Q14243

Explore the universe of human proteins at neXtProt for CELA2A: NX_P08217

Explore proteomics data for CELA2A at MOPED

Selected DME Specific Peptides for CELA2A (P08217) (see all 9)
 GDSGGPL  WPWQVSL  VLTAAHC  WWGSSVK 


See CELA2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_254275.1  
ENSEMBL proteins: 
 ENSP00000352639  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:
 IPR001314 Peptidase_S1A
 IPR001254 Peptidase_S1
 IPR018114 Peptidase_S1_AS
 IPR009003 Trypsin-like_Pept_dom

Graphical View of Domain Structure for InterPro Entry P08217

ProtoNet protein and cluster: P08217

2 Blocks protein domains:
IPB001254 Serine protease
IPB001314 Chymotrypsin serine protease family (S1) signature


UniProtKB/Swiss-Prot: CEL2A_HUMAN, P08217
Similarity: Belongs to the peptidase S1 family. Elastase subfamily
Similarity: Contains 1 peptidase S1 domain


CELA2A for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CEL2A_HUMAN, P08217
Function: Acts upon elastin
Catalytic activity: Preferential cleavage: Leu- -Xaa, Met- -Xaa and Phe- -Xaa. Hydrolyzes elastin

     Enzyme Numbers (IUBMB): EC 3.4.21.711 2 EC 3.4.212

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003824catalytic activity ----
GO:0004252serine-type endopeptidase activity IEA--
GO:0017171serine hydrolase activity IDA--
     
CELA2A for ontologies           About GeneDecksing


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CEL2A_HUMAN, P08217: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
mitochondrion1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--
GO:0036457keratohyalin granule IDA--

CELA2A for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CELA2A About    
See pathways by source

SuperPathContained pathways About
1Protein digestion and absorption
Protein digestion and absorption
2Pancreatic secretion
Pancreatic secretion

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways




2 Kegg Pathways  (Kegg details for CELA2A):
    Pancreatic secretion
Protein digestion and absorption


CELA2A for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CELA2A
Interactions:

    Search GeneGlobe Interaction Network for CELA2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

Selected Interacting proteins for CELA2A (ENSP000003526394) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
InteractantInteraction Details
GeneCardExternal ID(s)
MED31ENSP000002257284STRING: ENSP00000225728
CPA5ENSP000003475494STRING: ENSP00000347549
MED18ENSP000003629484STRING: ENSP00000362948
NGFENSP000003585254STRING: ENSP00000358525
DNAJC3ENSP000003659914STRING: ENSP00000365991
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis ----

CELA2A for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CELA2A (CEL2A)

1 DrugBank Compound for CELA2A    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
2-(2-HYDROXY-CYCLOPENTYL)-PENT-4-ENAL-- --target--10592235

1 Novoseek inferred chemical compound relationship for CELA2A gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
chymostatin 76.1 1 12714330 (1)



CELA2A for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CELA2A gene: 
NM_033440.2  

Unigene Cluster for CELA2A:

Chymotrypsin-like elastase family, member 2A
Hs.631866  [show with all ESTs]
Unigene Representative Sequence: AK056678
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000459653 ENST00000359621(uc001awk.3) ENST00000497590
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat CELA2A

Additional mRNA sequence: 

AK056678.1 AK312198.1 BC007031.1 BC069331.1 BC069432.1 CR450291.1 D00236.1 M16631.1 
M16652.1 

4 DOTS entries:

DT.453809  DT.91698724  DT.100031123  DT.100738366 

Selected AceView cDNA sequences (see all 216):

AA366517 AA309295 NM_033440 BQ614356 BM510081 BX103870 CB069667 BQ268273 
CA942969 BC007031 BQ787677 BU071824 BU950653 CA867358 CA842060 CA777153 
BQ632768 CA941029 CA942306 CA867641 BQ286113 CA773928 BM311580 AA366922 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CELA2A (see all 6)    About this scheme

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1:                          -                       -           -                                       
SP2:                          -                 -     -           -                                       
SP3:                          -                       -                                                   
SP4:                          -           -     -     -     -     -     -                                 
SP5:                          -                                                                           


ECgene alternative splicing isoforms for CELA2A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CELA2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGGACTAAGT
CELA2A Expression
About this image


CELA2A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Pancreas (Endocrine System)    fully expand to see all 2 entries
         Duct Cells Pancreatic Ducts
         Islets of Langerhans
 
 Epithelial Cells
         Duct Cells Pancreatic Ducts
CELA2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CELA2A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.631866

UniProtKB/Swiss-Prot: CEL2A_HUMAN, P08217
Tissue specificity: Pancreas. Not detected in keratinocytes

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for CELA2A gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cela2a1 , 5 chymotrypsin-like elastase family, member 2A1, 5 76.58(n)1
75.09(a)1
  4 (74.75 cM)5
137061  NM_007919.21  NP_031945.11 
 1418149625 
chicken
(Gallus gallus)
Aves CELA2A1 chymotrypsin-like elastase family, member 2A 70.11(n)
70.88(a)
  419486  NM_001032390.2  NP_001027562.2 
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.86262 Transcribed sequence with weak similarity to protein more 74.75(n)    CF374140.1 
zebrafish
(Danio rerio)
Actinopterygii ela2l1 elastase 2 like 65.16(n)
66.17(a)
  334304  NM_199886.1  NP_956180.1 


ENSEMBL Gene Tree for CELA2A (if available)
TreeFam Gene Tree for CELA2A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CELA2A gene
CTRL2  CTRC2  CELA3B2  CTRB12  CELA12  CELA3A2  CELA2B2  CTRB22  
Selected SIMAP similar genes for CELA2A using alignment to 1 protein entry:     CEL2A_HUMAN(see all similar genes):
ELA2A    ELA2B    CELA1    CELA2B    CTRC    CELA3A
CELA3B    ELA3A    CTRB1    CTRL    TMPRSS11F    CTRB2
DESC1    TMPRSS11D    TMPRSS11E    TMPRSS7    TMPRSS9    serase-1B

CELA2A for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CELA2A (see all 548)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs5412961,2
C,F,O,A,H--14301025(+) CCCACC/TCATTT 1 -- us2k112Minor allele frequency- T:0.38NS EA WA NA CSA 786
rs561523721,2
C--15696119(+) AAAAA-/A/AA  
        
GAATT
1 -- ds50011NA 2
rs286517691,2
--15781278(+) GGAAAC/GTAAGG 1 -- us2k10--------
rs1930489341,2
--15781329(+) ATTGAC/TGGATC 1 -- us2k10--------
rs1845422641,2
--15781346(+) TTGAAC/TTCGGC 1 -- us2k10--------
rs1469160071,2
C--15781431(+) AAGACC/TAGCCT 1 -- us2k10--------
rs5044681,2
C--15781443(+) GCCAAC/TATGGT 1 -- us2k10--------
rs1415514951,2
--15781448(+) TATGGC/TGAAAC 1 -- us2k10--------
rs1470523451,2
C--15781454(+) GAAACC/TCCGTC 1 -- us2k10--------
rs350842171,2
C,F--15781502(+) CGGTGC/TCTGTA 1 -- us2k12Minor allele frequency- T:0.50WA NA 4

HapMap Linkage Disequilibrium report for CELA2A (15783223 - 15798586 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for CELA2A:    About this table    
Variant IDTypeSubtypePubMed ID
esv2744319CNV Deletion23290073
esv2744308CNV Deletion23290073
nsv833536CNV Loss17160897
nsv818056CNV Loss17921354
nsv441683CNV CNV18776908

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 609443    OMIM disorders: --

5 diseases for CELA2A:    
About MalaCards
pancreatitis    acute pancreatitis    duodenitis    prostatitis
prostate cancer


CELA2A for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for CELA2A gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
chronic pancreatitis 42.9 2 15481311 (1)

Genetic Association Database (GAD): CELA2A
Human Genome Epidemiology (HuGE) Navigator: CELA2A (3 documents)

Export disorders for CELA2A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CELA2A gene, integrated from 10 sources (see all 30):
(articles sorted by number of sources associating them with CELA2A)
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  1. Characterization of pancreatic elastase II cDNAs: two elastase II mRNAs are expressed in human pancreas. (PubMed id 3646943)1, 2, 3 Kawashima I.... Takiguchi Y. (DNA 1987)
  2. Molecular cloning and expression in Escherichia coli of a cDNA encoding human pancreatic elastase 2. (PubMed id 2834346)1, 2, 3 Shirasu Y.... Ikenaga H. (J. Biochem. 1987)
  3. 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. (PubMed id 20932654)1, 4 Kerns S.L....Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010)
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  8. Further studies on the human pancreatic binary complexes involving procarboxypeptidase A. (PubMed id 2307232)1, 2 Moulard M.... Chapus C. (FEBS Lett. 1990)
  9. Primary structure of human pancreatic elastase 2 determined by sequence analysis of the cloned mRNA. (PubMed id 3427074)1, 2 Fletcher T.S.... Largman C. (Biochemistry 1987)
  10. Inactivity of recombinant ELA2B provides a new example of evolutionary elastase silencing in humans. (PubMed id 16327289)1, 9 Szepessy E. and Sahin-TA^th M. (Pancreatology 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 63036 HGNC: 24609 AceView: ELA2BandELA2A Ensembl:ENSG00000142615 euGenes: HUgn63036
ECgene: CELA2A Kegg: 63036 H-InvDB: CELA2A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CELA2A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
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IP news from LifeMap Sciences, Inc.)
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Patent Information for CELA2A gene:
Search GeneIP for patents involving CELA2A

GeneCards and IP:
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