Ece2 endothelin converting enzyme 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ece2provided by MGI
Official Full Name: endothelin converting enzyme 2provided by MGI
Primary source: MGI:MGI:1101356
See related: Ensembl:ENSMUSG00000022842 AllianceGenome:MGI:1101356
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ece-2; 1810009K13Rik; 6330509A19Rik; 9630025D12Rik; Eef1akmt4-Ece2
Summary: Predicted to enable metalloendopeptidase activity. Predicted to be involved in protein processing. Predicted to act upstream of or within peptide hormone processing. Predicted to be located in Golgi membrane; trans-Golgi network; and transport vesicle membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including adrenal gland; genitourinary system; gut; heart; and nervous system. Orthologous to several human genes including ECE2 (endothelin converting enzyme 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 7.8), CNS E18 (RPKM 4.3) and 28 other tissues See more
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Genomic context

Location:: 16 A3; 16 12.48 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (20448601..20464665)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (20629851..20645915)

Chromosome 16 - NC_000082.7 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?

It is a amyloid beta degrading enzyme and is expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex.
Title: Major amyloid-β-degrading enzymes, endothelin-converting enzyme-2 and neprilysin, are expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex.
These results suggest that ECE2, by selectively processing endogenous opioid peptides in the endocytic compartment, plays a role in modulating opioid receptor activity
Title: Endothelin-converting enzyme 2 differentially regulates opioid receptor activity.
a role for differential modulation of opioid receptor signaling by post-endocytic processing of peptide agonists by ECE2.
Title: Opioid receptor function is regulated by post-endocytic peptide processing.
ECE-2 has a role in the non-classical processing of spinal cord peptides and morphine responses, including the cleavage of a number of neuropeptides at non-classical sites in vitro.
Title: Mice deficient in endothelin-converting enzyme-2 exhibit abnormal responses to morphine and altered peptide levels in the spinal cord.
deficits in learning and memory in ECE2 knockout mice may provide unique insights into processes that may contribute to this disease and possible other disorders of cognition
Title: Animals lacking endothelin-converting enzyme-2 are deficient in learning and memory.
The PL405 assay is thus the first tool to study ECE-2 inhibition using high throughput screening or for ex vivo ECE-2 quantification.
Title: Identification of an endothelin-converting enzyme-2-specific fluorigenic substrate and development of an in vitro and ex vivo enzymatic assay.
ECE2 has a role in limiting Abeta accumulation in the mouse brain
Title: Alzheimer's disease beta-amyloid peptide is increased in mice deficient in endothelin-converting enzyme.
novel four subisoforms of ECE-2 that differ in their N-terminal cytoplasmic tails
Title: Molecular isolation and characterization of novel four subisoforms of ECE-2.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:485633 (e-PCR)
- UniSTS:485633

NoName (e-PCR)
- UniSTS:493183

Ece2 (e-PCR), detects polymorphism
- UniSTS:526220

UniSTS:480474 (e-PCR)
- UniSTS:480474

Readthrough Eef1ece2

Readthrough gene: Eef1ece2, Included gene: Eef1akmt4

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	ISO Inferred from Sequence Orthology more info
enables peptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within peptide hormone processing	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in transport vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: EEF1AKMT4-ECE2 readthrough transcript protein

NP_647454.2

EC 3.4.24.71

NP_808811.1

EC 3.4.24.71

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_139293.2 → NP_647454.2 EEF1AKMT4-ECE2 readthrough transcript protein isoform d

See identical proteins and their annotated locations for NP_647454.2

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC087898, AF489572, AU080537

Consensus CDS

CCDS28052.1

UniProtKB/Swiss-Prot

B2RQR8, E9Q896

UniProtKB/TrEMBL

Q923T6

Related

ENSMUSP00000003898.6, ENSMUST00000003898.12

Conserved Domains (1) summary

cd08662
Location:112 → 761

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
NM_177942.1 → NP_808811.1 EEF1AKMT4-ECE2 readthrough transcript protein isoform e

Status: VALIDATED

Description

Transcript Variant: This variant (5, also known as 2-b1) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (e, also known as 2b-1) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AC087898, AF489571, AF489572, AU080537

Consensus CDS

CCDS49796.1

UniProtKB/TrEMBL

Q80Z58

Related

ENSMUSP00000119693.2, ENSMUST00000133344.8

Conserved Domains (2) summary

cd08662
Location:83 → 732

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:72 → 725

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]