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Aliases for CELA2A Gene

Aliases for CELA2A Gene

  • Chymotrypsin Like Elastase Family Member 2A 2 3 5
  • EC 3.4.21.71 4 58
  • Elastase 2A 2 3
  • ELA2A 3 4
  • Chymotrypsin-Like Elastase Family, Member 2A 2
  • Chymotrypsin-Like Elastase Family Member 2A 3
  • Pancreatic Elastase IIA 3
  • Pancreatic Elastase 2 3
  • Elastase-2A 4
  • EC 3.4.21 58
  • PE-1 3

External Ids for CELA2A Gene

Previous GeneCards Identifiers for CELA2A Gene

  • GC01P015657
  • GC01P015783
  • GC01P014303

Summaries for CELA2A Gene

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, Hereditary. Among its related pathways are Keratinization and Collagen chain trimerization. GO annotations related to this gene include serine-type endopeptidase activity and serine hydrolase activity. An important paralog of this gene is CELA2B.

UniProtKB/Swiss-Prot for CELA2A Gene

  • Acts upon elastin.

Gene Wiki entry for CELA2A Gene

Additional gene information for CELA2A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CELA2A Gene

Genomics for CELA2A Gene

Regulatory Elements for CELA2A Gene

Enhancers for CELA2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H015462 1.1 Ensembl ENCODE 8.2 +7.4 7368 2 HDAC1 PKNOX1 KLF17 RFX5 ZEB1 FOS ATF7 SMARCA5 CEBPB TSHZ1 CELA2A SLC25A34 LOC105376767
GH01H015458 1.2 FANTOM5 ENCODE 3.4 +3.3 3276 2 INSM2 ZNF76 KLF17 FEZF1 ZNF2 ZEB1 RFX5 ZNF121 ZNF366 FOS AGMAT SLC25A34 CELA2A CELA2B CTRC PLEKHM2 LOC105376767
GH01H015454 1.1 FANTOM5 ENCODE 0.7 -0.3 -287 2 HDAC1 TAL1 FOSL1 TCF12 MTA3 GATA3 CTBP1 FOXK2 GATA2 NCOR1 CTRC CASP9 CELA2A
GH01H015453 0.6 ENCODE 0.7 -2.3 -2338 0 FOSL1 E2F1 IKZF1 FOS ZNF600 PRDM10 ZBTB40 CLCNKA CELA2A CTRC
GH01H015444 0.8 ENCODE 0.4 -12.1 -12128 0 HDAC1 PKNOX1 ATF1 ZKSCAN1 MTA3 CTBP1 GATA2 POLR2A ATF7 ZNF740 LOC101927417 FHAD1 CTRC CELA2A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CELA2A on UCSC Golden Path with GeneCards custom track

Genomic Location for CELA2A Gene

Chromosome:
1
Start:
15,456,728 bp from pter
End:
15,472,091 bp from pter
Size:
15,364 bases
Orientation:
Plus strand

Genomic View for CELA2A Gene

Genes around CELA2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CELA2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CELA2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CELA2A Gene

Proteins for CELA2A Gene

  • Protein details for CELA2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08217-CEL2A_HUMAN
    Recommended name:
    Chymotrypsin-like elastase family member 2A
    Protein Accession:
    P08217
    Secondary Accessions:
    • B2R5I4
    • Q14243

    Protein attributes for CELA2A Gene

    Size:
    269 amino acids
    Molecular mass:
    28888 Da
    Quaternary structure:
    • Interacts with CPA1.

neXtProt entry for CELA2A Gene

Selected DME Specific Peptides for CELA2A Gene

P08217:
  • CNGDSGGP
  • VLTAAHC
  • GDSGGPL
  • CYVTGWGRLQTNGA
  • LVAGALSCG
  • AGTILPNNY
  • WWGSSVK
  • WVLTAAH
  • WPWQVSL

Post-translational modifications for CELA2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CELA2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CELA2A Gene

Gene Families for CELA2A Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P08217

UniProtKB/Swiss-Prot:

CEL2A_HUMAN :
  • Belongs to the peptidase S1 family. Elastase subfamily.
Family:
  • Belongs to the peptidase S1 family. Elastase subfamily.
genes like me logo Genes that share domains with CELA2A: view

Function for CELA2A Gene

Molecular function for CELA2A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage: Leu- -Xaa, Met- -Xaa and Phe- -Xaa. Hydrolyzes elastin.
UniProtKB/Swiss-Prot Function:
Acts upon elastin.

Enzyme Numbers (IUBMB) for CELA2A Gene

Phenotypes From GWAS Catalog for CELA2A Gene

Gene Ontology (GO) - Molecular Function for CELA2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity IBA,TAS --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with CELA2A: view
genes like me logo Genes that share phenotypes with CELA2A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CELA2A

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CELA2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CELA2A Gene

Localization for CELA2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CELA2A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CELA2A gene
Compartment Confidence
extracellular 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CELA2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0005829 cytosol TAS --
GO:0036457 keratohyalin granule IDA 20179351
genes like me logo Genes that share ontologies with CELA2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CELA2A Gene

Pathways & Interactions for CELA2A Gene

genes like me logo Genes that share pathways with CELA2A: view

Pathways by source for CELA2A Gene

Gene Ontology (GO) - Biological Process for CELA2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with CELA2A: view

No data available for SIGNOR curated interactions for CELA2A Gene

Drugs & Compounds for CELA2A Gene

(3) Drugs for CELA2A Gene - From: DrugBank, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-(2-HYDROXY-CYCLOPENTYL)-PENT-4-ENAL Experimental Pharma Target 0
Alvelestat Investigational Pharma NE inhibitor 0

(1) ApexBio Compounds for CELA2A Gene

Compound Action Cas Number
Alvelestat NE inhibitor 848141-11-7
genes like me logo Genes that share compounds with CELA2A: view

Drug Products

Transcripts for CELA2A Gene

mRNA/cDNA for CELA2A Gene

Unigene Clusters for CELA2A Gene

Chymotrypsin-like elastase family, member 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CELA2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CELA2A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - - - - - -
SP5: -
SP6:

Relevant External Links for CELA2A Gene

GeneLoc Exon Structure for
CELA2A
ECgene alternative splicing isoforms for
CELA2A

Expression for CELA2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CELA2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CELA2A Gene

This gene is overexpressed in Pancreas (x52.9).

Protein differential expression in normal tissues from HIPED for CELA2A Gene

This gene is overexpressed in Pancreatic juice (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CELA2A Gene



Protein tissue co-expression partners for CELA2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CELA2A Gene:

CELA2A

SOURCE GeneReport for Unigene cluster for CELA2A Gene:

Hs.631866

mRNA Expression by UniProt/SwissProt for CELA2A Gene:

P08217-CEL2A_HUMAN
Tissue specificity: Pancreas. Not detected in keratinocytes.

Evidence on tissue expression from TISSUES for CELA2A Gene

  • Pancreas(4.9)
genes like me logo Genes that share expression patterns with CELA2A: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CELA2A Gene

Orthologs for CELA2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CELA2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CELA2A 33 34
  • 98.88 (n)
cow
(Bos Taurus)
Mammalia CELA2A 33
  • 84.14 (n)
ELA2A 34
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cela2a 33
  • 81.16 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cela2a 33 16 34
  • 76.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves CELA2A 33 34
  • 70.11 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498609 33
  • 63.44 (n)
Str.8626 33
zebrafish
(Danio rerio)
Actinopterygii ela2l 33
  • 65.16 (n)
ela3l 34
  • 62 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for CELA2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CELA2A Gene

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

Paralogs for CELA2A Gene

Paralogs for CELA2A Gene

genes like me logo Genes that share paralogs with CELA2A: view

Variants for CELA2A Gene

Sequence variations from dbSNP and Humsavar for CELA2A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000449065 -- 15,464,015(+) CTACT(A/G)CACTC intron-variant
rs1000635416 -- 15,469,474(+) AACTG(A/C/G)CACTT intron-variant
rs1001680998 -- 15,464,809(+) TTTTC(A/G)GCCCA intron-variant, nc-transcript-variant
rs1001717537 -- 15,459,576(+) CTGCT(A/G)CAGGG intron-variant
rs1001983883 -- 15,464,646(+) TAAAC(A/C)CAAGG intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for CELA2A Gene

Variant ID Type Subtype PubMed ID
esv2744308 CNV deletion 23290073
esv2744319 CNV deletion 23290073
esv2761582 CNV loss 21179565
esv3548899 CNV deletion 23714750
esv3585312 CNV loss 21293372
nsv1114929 CNV deletion 24896259
nsv1161190 CNV duplication 26073780
nsv441683 CNV loss 18776908
nsv818056 CNV loss 17921354
nsv833536 CNV loss 17160897
nsv945786 CNV duplication 23825009

Variation tolerance for CELA2A Gene

Residual Variation Intolerance Score: 81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CELA2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELA2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CELA2A Gene

Disorders for CELA2A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CELA2A Gene - From: Novoseek

Disorder Aliases PubMed IDs
pancreatitis, hereditary
  • pancreatitis, chronic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CELA2A

Genetic Association Database (GAD)
CELA2A
Human Genome Epidemiology (HuGE) Navigator
CELA2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CELA2A
genes like me logo Genes that share disorders with CELA2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CELA2A Gene

Publications for CELA2A Gene

  1. Characterization of pancreatic elastase II cDNAs: two elastase II mRNAs are expressed in human pancreas. (PMID: 3646943) Kawashima I … Takiguchi Y (DNA (Mary Ann Liebert, Inc.) 1987) 2 3 4 60
  2. Molecular cloning and expression in Escherichia coli of a cDNA encoding human pancreatic elastase 2. (PMID: 2834346) Shirasu Y … Ishida A (Journal of biochemistry 1987) 2 3 4 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. 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. (PMID: 20932654) Kerns SL … Rosenstein BS (International journal of radiation oncology, biology, physics 2010) 3 45 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60

Products for CELA2A Gene

Sources for CELA2A Gene

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