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 protein... See more...

Aliases for CELA2A Gene

Aliases for CELA2A Gene

  • Chymotrypsin Like Elastase 2A 2 3 5
  • ELA2A 2 3 4
  • Chymotrypsin-Like Elastase Family Member 2A 3 4
  • EC 3.4.21.71 4 50
  • Elastase 2A 2 3
  • 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 50
  • CELA2A 5
  • AOMS4 3
  • 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 2A) is a Protein Coding gene. Diseases associated with CELA2A include Abdominal Obesity-Metabolic Syndrome 4 and Hypertriglyceridemia, Familial. Among its related pathways are Salivary secretion and Keratinization. Gene Ontology (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 Summary for CELA2A Gene

  • Elastase that enhances insulin signaling and might have a physiologic role in cellular glucose metabolism. Circulates in plasma and reduces platelet hyperactivation, triggers both insulin secretion and degradation, and increases insulin sensitivity.

Gene Wiki entry for CELA2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CELA2A Gene

Genomics for CELA2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CELA2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J015453 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 250.7 -0.9 -859 4.1 ZNF600 NCOR1 IKZF1 NONO CEBPB HES1 SIN3B CUX1 TAL1 PRDM10 CELA2A HSALNG0001076 piR-57133-008 CTRC CLCNKA CASP9 HSALNG0001075
GH01J015459 Enhancer 0.3 ENCODE 250.7 +1.8 1833 0.2 RNF2 CELA2A HSALNG0001076 piR-57133-008 CELA2B
GH01J015462 Enhancer 1 Ensembl ENCODE 8.2 +7.7 7692 3.6 IKZF1 ZBTB10 CEBPB ZEB1 NR2C1 EP300 STAT3 ZNF316 TCF7L2 SMARCA5 CELA2B CELA2A AGMAT SLC25A34 HSALNG0001077 LOC105376767 piR-57133-008
GH01J015458 Enhancer 1.2 FANTOM5 Ensembl ENCODE 3.3 +3.3 3276 2.3 ZNF600 IKZF1 JUND FEZF1 ZNF639 ZNF341 ZEB1 RFX5 STAT3 ZNF843 AGMAT SLC25A34 CELA2A CELA2B CTRC PLEKHM2 piR-57133-008
GH01J015444 Enhancer 0.9 Ensembl ENCODE 0.4 -11.6 -11627 1.8 IKZF1 MYC ZNF592 BHLHE40 MNT NCOA2 ZFP91 PTBP1 CBX1 SMARCA4 FHAD1-AS1 FHAD1 EFHD2 CTRC HSALNG0001075 CELA2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CELA2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CELA2A

Genomic Locations for CELA2A Gene

Latest Assembly
chr1:15,456,728-15,472,091
(GRCh38/hg38)
Size:
15,364 bases
Orientation:
Plus strand

Previous Assembly
chr1:15,783,227-15,798,586
(GRCh37/hg19 by Entrez Gene)
Size:
15,360 bases
Orientation:
Plus strand

chr1:15,783,223-15,798,586
(GRCh37/hg19 by Ensembl)
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. Interacts with SERPINA1 (PubMed:31358993).

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

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

Protein Domains for CELA2A Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature

Suggested Antigen Peptide Sequences for CELA2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92485, Homo sapiens elastase 2A (ELA2A), mRNA (B2R5I4_HUMAN)
  • Elastase-2A (CEL2A_HUMAN)
  • ELA2A protein (Q6ICV2_HUMAN)
  • Elastase 2A (Q6ISN8_HUMAN)
  • Elastase 2A (Q6ISU5_HUMAN)

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 Function:
Elastase that enhances insulin signaling and might have a physiologic role in cellular glucose metabolism. Circulates in plasma and reduces platelet hyperactivation, triggers both insulin secretion and degradation, and increases insulin sensitivity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage: Leu-|-Xaa, Met-|-Xaa and Phe-|-Xaa. Hydrolyzes elastin.; EC=3.4.21.71; Evidence={ECO:0000269|PubMed:31358993};.

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 IDA 31358993
GO:0004252 serine-type endopeptidase activity TAS,IBA 21873635
GO:0005515 protein binding IPI 31358993
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase 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 Models for CELA2A Gene

MGI Knock Outs for CELA2A:

Animal Models for research

  • Taconic Biosciences Mouse Models for CELA2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELA2A

No data available for Human Phenotype Ontology , 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
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 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 21873635
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 IBA 21873635
GO:0032868 response to insulin IDA 31358993
GO:0050796 regulation of insulin secretion IDA 31358993
GO:0070268 cornification TAS --
GO:0090330 regulation of platelet aggregation IDA 31358993
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 for research

Transcripts for CELA2A Gene

mRNA/cDNA for CELA2A Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CELA2A

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

Expression for CELA2A Gene

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



Protein tissue co-expression partners for CELA2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CELA2A

SOURCE GeneReport for Unigene cluster for CELA2A Gene:

Hs.631866

mRNA Expression by UniProt/SwissProt for CELA2A Gene:

P08217-CEL2A_HUMAN
Tissue specificity: Expressed in pancreas. Not detected in keratinocytes (PubMed:10620133). Detected in exocrine secretions of the pancreas (at protein level). Also expressed in a small fraction of cells in pancreatic islets, adrenal cortex, intestinal glands and colonic lymphoid follicles (at protein level) (PubMed:31358993). Detected in plasma (PubMed:31358993).

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 for research

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 29 30
  • 98.88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CELA2A 29
  • 84.14 (n)
ELA2A 30
  • 81 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Cela2a 29
  • 81.16 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 77 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cela2a 29 16 30
  • 76.58 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 64 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CELA2A 29 30
  • 70.11 (n)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498609 29
  • 63.44 (n)
Str.8626 29
Zebrafish
(Danio rerio)
Actinopterygii ela2l 29
  • 65.16 (n)
ela3l 30
  • 62 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
OneToMany
Species where no ortholog for CELA2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CELA2A: view image
Alliance of Genome Resources:
Additional Orthologs for CELA2A

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CELA2A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs135254480 Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620] p.Asp121Asn
rs1352544800 Pathogenic: Hypertensive disorder; Coronary artery disease; Hypertriglyceridemia; Diabetes; Familial partial lipodystrophy 6 15,463,390(+) G/A
NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)
MISSENSE
rs372947070 Pathogenic: Hypertensive disorder; Coronary artery disease; Hypertriglyceridemia; Diabetes. Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620] 15,461,640(+) C/Tp.Thr70Met
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)
MISSENSE
rs558493952 Pathogenic: Hypertensive disorder; Coronary artery disease; Hypertriglyceridemia; Diabetes; Familial partial lipodystrophy 6. Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620] 15,462,758(+) C/Ap.Leu85Met
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)
MISSENSE
rs752331004 Pathogenic: Hypertensive disorder; Coronary artery disease; Hypertriglyceridemia; Diabetes; Familial partial lipodystrophy 6 15,466,145(+) G/C
NM_033440.3(CELA2A):c.639+1G>C
SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CELA2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CELA2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CELA2A
Leiden Open Variation Database (LOVD)
CELA2A

SNP Genotyping and Copy Number Assays for research

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

Disorders for CELA2A Gene

MalaCards: The human disease database

(8) MalaCards diseases for CELA2A Gene - From: OMI, CVR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CEL2A_HUMAN
  • Abdominal obesity-metabolic syndrome 4 (AOMS4) [MIM:618620]: A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. {ECO:0000269 PubMed:31358993}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CELA2A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CELA2A: view

No data available for Genatlas for CELA2A Gene

Publications for CELA2A Gene

  1. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. (PMID: 31358993) Esteghamat F … Mani A (Nature genetics 2019) 3 4 72
  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
  3. 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
  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. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. 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 40

Products for CELA2A Gene

Sources for CELA2A Gene