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

    Gene ID: 9718, updated on 5-May-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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    See ECE2 in Genome Data Viewer
    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.

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