CELA2A (chymotrypsin like elastase 2A)

2014-11-01  

Identity

HGNC
LOCATION
1p36.21
LOCUSID
ALIAS
AOMS4,ELA2A,PE-1
FUSION GENES

Other Information

Locus ID:

NCBI: 63036
MIM: 609443
HGNC: 24609
Ensembl: ENSG00000142615

Variants:

dbSNP: 63036
ClinVar: 63036
TCGA: ENSG00000142615
COSMIC: CELA2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142615ENST00000359621P08217

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000

Pathways

PathwaySourceExternal ID
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

References

Pubmed IDYearTitleCitations
336747622021Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation.14
336747622021Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation.14
313589932019CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.11
313589932019CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.11
273584032016Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.18
273584032016Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.18
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
162474452006ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.11
162474452006ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.11

Citation

Dessen P

CELA2A (chymotrypsin like elastase 2A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61691/haematological-explorer/js/tumors-explorer/