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ECE2 endothelin converting enzyme 2 [ Homo sapiens (human) ]

Gene ID: 9718, updated on 5-Mar-2024

Summary

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Official Symbol
ECE2provided by HGNC
Official Full Name
endothelin converting enzyme 2provided by HGNC
Primary source
HGNC:HGNC:13275
See related
Ensembl:ENSG00000145194 MIM:610145; AllianceGenome:HGNC:13275
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EEF1AKMT4
Summary
Enables metalloendopeptidase activity. Involved in peptide hormone processing. Located in cytoplasmic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal (RPKM 4.6), brain (RPKM 3.0) and 22 other tissues See more
Orthologs
all
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Genomic context

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Location:
3q27.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (184276022..184293031)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (187085301..187102316)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183993810..184010819)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene EEF1A lysine methyltransferase 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:183976879-183977065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977445-183977995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183977996-183978547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183980433-183981195 Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14959 Neighboring gene proteasome 26S subunit ubiquitin receptor, non-ATPase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184031817-184032317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:184033042-184033663 Neighboring gene eukaryotic translation initiation factor 4 gamma 1 Neighboring gene small nucleolar RNA, C/D box 66

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. Smith-Anttila CJA, et al. Autoimmunity, 2017 Jun. PMID 28557628
  2. Expression pattern of endothelin system components and localization of smooth muscle cells in the human pre-ovulatory follicle. Choi DH, et al. Hum Reprod, 2011 May. PMID 21406445, Free PMC Article
  3. [Artificial endothelial cell. From stem cells to transdifferentiated endothelial cells]. Campos Muñoz A. An R Acad Nac Med (Madr), 2009. PMID 20432672
  4. Transdifferentiation potentiality of human Wharton's jelly stem cells towards vascular endothelial cells. Alaminos M, et al. J Cell Physiol, 2010 Jun. PMID 20143331
  5. Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta. Palmer JC, et al. Am J Pathol, 2009 Jul. PMID 19541930, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.
    Title: Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.
  2. this is the first report of ECE-2 being an autoantigen in humans. We have identified ECE-2 as a specific autoantigen in APS1 with a restricted neuroendocrine distribution.
    Title: Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1.
  3. ECE-2 and ECE-1 levels are significantly reduced in post-mortem brain from dementia with Lewy body patients.
    Title: Endothelin-converting enzymes degrade α-synuclein and are reduced in dementia with Lewy bodies.
  4. Te results of this study suggested taht genetic variations in MMEL1, ECE1, ECE2, AGER, PLG, PLAT, NR1H3, MMP3, LRP1, TTR, NR1H2, and MMP9 genes do not play major role among the Finnish AD patient cohort.
    Title: Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.
  5. 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.
  6. Data show that CD133 and ECE expressions are associated with lymphoid metastasis and prognosis of NSCLC, and their overexpression often suggests unfavorable prognosis of NSCLC.
    Title: [Association of CD133 and endothelin-converting enzyme expressions with prognosis of non-small cell lung carcinoma].
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
  8. Abeta accumulation in Alzheimer's disease is unlikely to be caused by ECE-2 deficiency. However, ECE-2 expression is up-regulated
    Title: Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta.
  9. An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene
    Title: An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene.
  10. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Readthrough EEF1AKMT4-ECE2

Readthrough gene: EEF1AKMT4-ECE2, Included gene: EEF1AKMT4

Homology

Clone Names

  • MGC2408, KIAA0604, MGC17664, MGC78487

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
  
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
  
involved_in cell-cell signaling TAS
Traceable Author Statement
more info
 PubMed 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  
involved_in peptide hormone processing IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in transport vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in transport vesicle membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
endothelin-converting enzyme 2
Names
EEF1A lysine methyltransferase 4
EEF1AKMT4-ECE2
EEF1AKMT4-ECE2 readthrough transcript protein
NP_001032401.1
NP_001093590.1
NP_001093591.1

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)

  1. NM_001037324.3 → NP_001032401.1  endothelin-converting enzyme 2 isoform B

    See identical proteins and their annotated locations for NP_001032401.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (B) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AY359003, BC142950
    Consensus CDS
    CCDS33899.1
    UniProtKB/TrEMBL
    B4DF19
    Related
    ENSP00000352052.4, ENST00000359140.8
    Conserved Domains (2) summary
    cd08662
    Location:85 → 734
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:74 → 727
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

  2. NM_001100120.2 → NP_001093590.1  endothelin-converting enzyme 2 isoform D

    See identical proteins and their annotated locations for NP_001093590.1

    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 distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF428263, AF521189, AY359003, BC142950
    Consensus CDS
    CCDS43179.1
    UniProtKB/Swiss-Prot
    A5PLK8, O60344, P0DPD6, Q6NTG7, Q6UW36, Q8NFD7, Q96NX3, Q96NX4, Q9BRZ8
    UniProtKB/TrEMBL
    H0Y5G8
    Related
    ENSP00000350066.5, ENST00000357474.9
    Conserved Domains (1) summary
    cd08662
    Location:160 → 809
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

  3. NM_001100121.2 → NP_001093591.1  endothelin-converting enzyme 2 isoform E

    See identical proteins and their annotated locations for NP_001093591.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and CDS compared to variant 1. The resulting isoform (E) has a distinct N-terminus compared to isoform A.
    Source sequence(s)
    AF192531, AF428263, AY359003, BC142950
    Consensus CDS
    CCDS46969.1
    UniProtKB/TrEMBL
    B4DF19
    Related
    ENSP00000385846.3, ENST00000404464.8
    Conserved Domains (2) summary
    cd08662
    Location:114 → 763
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:103 → 756
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    184276022..184293031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    187085301..187102316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DPD6.1 GenPept UniProtKB/Swiss-Prot:P0DPD6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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