CELA2A (chymotrypsin like elastase 2A)

2014-11-01 Affiliation

Identity

HGNC

CELA2A

LOCATION

1p36.21

LOCUSID

63036

ALIAS

AOMS4,ELA2A,PE-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000142615	ENST00000359621	P08217

Expression (GTEx)

1000

2000

3000

4000

5000

6000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
Developmental Biology	REACTOME	R-HSA-1266738
Keratinization	REACTOME	R-HSA-6805567
Formation of the cornified envelope	REACTOME	R-HSA-6809371

References

Pubmed ID	Year	Title	Citations
33674762	2021	Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation.	14
33674762	2021	Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation.	14
31358993	2019	CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.	11
31358993	2019	CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.	11
27358403	2016	Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.	18
27358403	2016	Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.	18
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
16247445	2006	ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.	11
16247445	2006	ELA2 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/favicon/img/case-report-explorer/