CELA2A chymotrypsin like elastase 2A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELA2Aprovided by HGNC
Official Full Name: chymotrypsin like elastase 2Aprovided by HGNC
Primary source: HGNC:HGNC:24609
See related: Ensembl:ENSG00000142615 MIM:609443; AllianceGenome:HGNC:24609
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PE-1; AOMS4; ELA2A
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 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]
Expression: Restricted expression toward pancreas (RPKM 18580.0) See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (15456732..15472091)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (14901450..14916792)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (15783227..15798586)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation.
Title: Epithelial production of elastase is increased in inflammatory bowel disease and causes mucosal inflammation.
CELA2A mutations resulting in high serum level is associated with early-onset atherosclerosis and metabolic syndrome.
Title: CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation.
Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
Title: Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
analysis of regulation of hELA2 gene expression suggests transcriptional effects of AML1-ETO are more complex than simple DNA binding and repression via recruitment of corepressors
Title: ELA2 is regulated by hematopoietic transcription factors, but not repressed by AML1-ETO.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Abdominal obesity-metabolic syndrome 4 MedGen: C5231430 OMIM: 618620 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36104 (e-PCR)
- UniSTS:17033

RH71372 (e-PCR)
- UniSTS:8879

NoName (e-PCR)
- UniSTS:483287

RH67819 (e-PCR)
- UniSTS:30169

NoName (e-PCR)
- UniSTS:480492

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in insulin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of insulin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to insulin	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in keratohyalin granule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: chymotrypsin-like elastase family member 2A

Names: chymotrypsin like elastase family member 2A; elastase 2A; pancreatic elastase 2; pancreatic elastase IIA

NP_254275.1

EC 3.4.21.71

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_033440.3 → NP_254275.1 chymotrypsin-like elastase family member 2A preproprotein

See identical proteins and their annotated locations for NP_254275.1

Status: REVIEWED

Source sequence(s)

BC007031, BQ787677

Consensus CDS

CCDS157.1

UniProtKB/Swiss-Prot

B2R5I4, P08217, Q14243

UniProtKB/TrEMBL

Q6ICV2, Q6ISN8, Q6ISU5

Related

ENSP00000352639.4, ENST00000359621.5

Conserved Domains (1) summary

cd00190
Location:29 → 265

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...