Cela2a chymotrypsin-like elastase family, member 2A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cela2aprovided by MGI
Official Full Name: chymotrypsin-like elastase family, member 2Aprovided by MGI
Primary source: MGI:MGI:95316
See related: Ensembl:ENSMUSG00000058579 AllianceGenome:MGI:95316
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ela2; Ela-2; Ela2a
Summary: This gene encodes a serine protease enzyme that hydrolyzes elastin. This gene is highly expressed in the pancreatic acinar cells where the encoded preproprotein undergoes processing including signal peptide cleavage to generate an inactive zymogen. The removal of N-terminal activation peptide from the zymogen by trypsin generates active elastase enzyme. This gene is also expressed in the mouse epidermis where it participates in pro-filaggrin processing. [provided by RefSeq, Jul 2016]
Expression: Biased expression in small intestine adult (RPKM 15206.1), spleen adult (RPKM 7098.1) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 74.75 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (141542265..141553316, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (141814954..141826005, complement)

Chromosome 4 - NC_000070.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ELA2 as a major new epidermal protease involved in essential pathways for skin barrier function.
Title: Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235086

AW493809 (e-PCR)
- UniSTS:179108

RH135858 (e-PCR)
- UniSTS:209856

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables serine hydrolase activity	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in keratohyalin granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: chymotrypsin-like elastase family member 2A

Names: elastase 2A

NP_031945.1

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_007919.3 → NP_031945.1 chymotrypsin-like elastase family member 2A preproprotein

See identical proteins and their annotated locations for NP_031945.1

Status: REVIEWED

Source sequence(s)

AL928577, CJ042539, CJ042553, CJ042571

Consensus CDS

CCDS18884.1

UniProtKB/Swiss-Prot

P05208

Related

ENSMUSP00000099539.4, ENSMUST00000102481.4

Conserved Domains (2) summary

smart00020
Location:30 → 264

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:31 → 267

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 ...