CELA2A (chymotrypsin like elastase 2A)

Gene

• Entrez ID: 63036
• Gene name: Chymotrypsin like elastase 2A
• Gene symbol: CELA2A
• Synonyms (NCBI Gene): AOMS4, ELA2A, PE-1
• Chromosome: 1
• Chromosome location: 1p36.21
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372947070	C>T	Pathogenic	Missense variant, coding sequence variant
rs558493952	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT883626	hsa-miR-132	CLIP-seq
MIRT883627	hsa-miR-1915	CLIP-seq
MIRT883628	hsa-miR-212	CLIP-seq
MIRT883629	hsa-miR-3691-3p	CLIP-seq
MIRT883630	hsa-miR-4726-3p	CLIP-seq
MIRT883631	hsa-miR-4766-5p	CLIP-seq
MIRT883632	hsa-miR-494	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IDA	31358993
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	2834346
GO:0005515	Function	Protein binding	IPI	31358993
GO:0005576	Component	Extracellular region	IDA	31358993
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017171	Function	Serine hydrolase activity	IDA	20179351
GO:0032868	Process	Response to insulin	IDA	31358993
GO:0036457	Component	Keratohyalin granule	IDA	20179351
GO:0050796	Process	Regulation of insulin secretion	IDA	31358993
GO:0090330	Process	Regulation of platelet aggregation	IDA	31358993
GO:1901143	Process	Insulin catabolic process	IDA	31358993

Other IDs

• MIM: 609443
• HGNC: 24609
• e!Ensembl: ENSG00000142615

Protein

• UniProt ID: P08217
• Protein name: Chymotrypsin-like elastase family member 2A (EC 3.4.21.71) (Elastase-2A)
• Protein 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 sensitiv
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	29 → 262	Trypsin	Domain

• Tissue specificity: 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 gl
• Sequence:

  MIRTLLLSTLVAGALSCGDPTYPPYVTRVVGGEEARPNSWPWQVSLQYSSNGKWYHTCGG
  SLIANSWVLTAAHCISSSRTYRVGLGRHNLYVAESGSLAVSVSKIVVHKDWNSNQISKGN
  DIALLKLANPVSLTDKIQLACLPPAGTILPNNYPCYVTGWGRLQTNGAVPDVLQQGRLLV
  VDYATCSSSAWWGSSVKTSMICAGGDGVISSCNGDSGGPLNCQASDGRWQVHGIVSFGSR
  LGCNYYHKPSVFTRVSNYIDWINSVIANN

• Sequence length: 269

Pathways

KEGG:

Pancreatic secretion
Protein digestion and absorption

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abdominal obesity-metabolic syndrome 4	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV002249481 RCV002508145 RCV002508144 RCV002508146
CELA2A-related disorder	Pathogenic	rs372947070	RCV003965579
Coronary artery disorder	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073
Diabetes	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073
Hypertensive disorder	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073
Hypertriglyceridemia	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073

Associations from Text Mining
Disease Name	Relationship Type	References
Atherosclerosis	Associate	31358993
Inflammation	Associate	33674762
Inflammatory Bowel Diseases	Stimulate	33674762
Metabolic Syndrome	Associate	31358993