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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
162474452006ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.10
273584032016Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.8
313589932019CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.0

Citation

Dessen P

CELA2A (chymotrypsin like elastase 2A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61691/cela2a