Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	63036
Gene name	Chymotrypsin like elastase 2A
Gene symbol	CELA2A
Synonyms (NCBI Gene)	AOMS4ELA2APE-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

Show/Hide all (2)

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

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (21)

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

MIM	HGNC	e!Ensembl
609443	24609	ENSG00000142615

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

Interactions

View interactions

	KEGG		Reactome
	Pancreatic secretion Protein digestion and absorption		Formation of the cornified envelope

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abdominal obesity-metabolic syndrome 4	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV002249481 RCV002508145 RCV002508144 RCV002508146	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CELA2A-related disorder	Pathogenic	rs372947070	RCV003965579	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronary artery disorder	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disorder	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertriglyceridemia	Pathogenic; Likely pathogenic	rs372947070, rs558493952, rs1352544800, rs752331004	RCV000853074 RCV000853072 RCV000853071 RCV000853073	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATHEROSCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME X	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	31358993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31358993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	CTD_human_DG	31358993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	31358993	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	21602471		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33674762	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31358993	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31358993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	CTD_human_DG	31358993		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28414485		★★★★★ ★☆☆☆☆ Found in Text Mining only

CELA2A (chymotrypsin like elastase 2A)