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Aliases for ECE2 Gene

Aliases for ECE2 Gene

  • Endothelin Converting Enzyme 2 2 3
  • KIAA0604 4 6
  • EC 3.4.24.71 64
  • EC 3.4.24 64
  • ECE-2 4

External Ids for ECE2 Gene

Summaries for ECE2 Gene

Entrez Gene Summary for ECE2 Gene

  • This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for ECE2 Gene

ECE2 (Endothelin Converting Enzyme 2) is a Protein Coding gene. Among its related pathways are A-beta Uptake and Degradation. GO annotations related to this gene include metalloendopeptidase activity and methyltransferase activity. An important paralog of this gene is MME.

UniProtKB/Swiss-Prot for ECE2 Gene

  • Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May limit beta-amyloid peptide accumulation in brain. May also have methyltransferase activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECE2 Gene

Genomics for ECE2 Gene

Genomic Location for ECE2 Gene

Start:
184,249,650 bp from pter
End:
184,293,031 bp from pter
Size:
43,382 bases
Orientation:
Plus strand

Genomic View for ECE2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ECE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECE2 Gene

Regulatory Elements for ECE2 Gene

Proteins for ECE2 Gene

  • Protein details for ECE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60344-ECE2_HUMAN
    Recommended name:
    Endothelin-converting enzyme 2
    Protein Accession:
    O60344
    Secondary Accessions:
    • A5PLK8
    • Q6NTG7
    • Q6UW36
    • Q8NFD7
    • Q96NX3
    • Q96NX4
    • Q9BRZ8

    Protein attributes for ECE2 Gene

    Size:
    883 amino acids
    Molecular mass:
    99773 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAL30386.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25530.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ECE2 Gene

    Alternative splice isoforms for ECE2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ECE2 Gene

Proteomics data for ECE2 Gene at MOPED

Selected DME Specific Peptides for ECE2 Gene

Post-translational modifications for ECE2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn324, Asn384, and Asn429

Domains for ECE2 Gene

Gene Families for ECE2 Gene

UniProtKB/Swiss-Prot:

ECE2_HUMAN
Family:
  • In the N-terminal section; belongs to the methyltransferase superfamily.:
    • O60344
  • In the C-terminal section; belongs to the peptidase M13 family.:
    • O60344
genes like me logo Genes that share domains with ECE2: view

Function for ECE2 Gene

Molecular function for ECE2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.4 uM for big ET-1 {ECO:0000269 PubMed:12560336}; KM=1.4 uM for peptide E {ECO:0000269 PubMed:12560336}; KM=27.4 uM for bradykinin {ECO:0000269 PubMed:12560336}; KM=48.4 uM for dynorphin B {ECO:0000269 PubMed:12560336}; pH dependence: Optimum pH is 5.0-5.5. Inactive at neutral pH. {ECO:0000269 PubMed:12560336};
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of the 21-Trp- -Val-22 bond in big endothelin to form endothelin 1
UniProtKB/Swiss-Prot Function: Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides. May limit beta-amyloid peptide accumulation in brain. May also have methyltransferase activity.

Enzyme Numbers (IUBMB) for ECE2 Gene

Gene Ontology (GO) - Molecular Function for ECE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 11718899
GO:0005515 protein binding IPI 25416956
GO:0008168 methyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ECE2: view
genes like me logo Genes that share phenotypes with ECE2: view

Animal Models for ECE2 Gene

MGI Knock Outs for ECE2:

miRNA for ECE2 Gene

miRTarBase miRNAs that target ECE2

No data available for Transcription Factor Targeting and HOMER Transcription for ECE2 Gene

Localization for ECE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECE2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasmic granule membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECE2 Gene COMPARTMENTS Subcellular localization image for ECE2 gene
Compartment Confidence
golgi apparatus 5
nucleus 3
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for ECE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus --
GO:0016021 integral component of membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IDA 11718899
genes like me logo Genes that share ontologies with ECE2: view

Pathways for ECE2 Gene

SuperPathways for ECE2 Gene

genes like me logo Genes that share pathways with ECE2: view

Pathways by source for ECE2 Gene

1 R&D Systems pathway for ECE2 Gene

Gene Ontology (GO) - Biological Process for ECE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0007267 cell-cell signaling TAS 11718899
GO:0007420 brain development ISS --
GO:0007507 heart development ISS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with ECE2: view

Compounds for ECE2 Gene

(3) Novoseek inferred chemical compound relationships for ECE2 Gene

Compound -log(P) Hits PubMed IDs
phosphoramidon 85.2 6
thiorphan 78.8 1
zinc 18.6 2
genes like me logo Genes that share compounds with ECE2: view

Transcripts for ECE2 Gene

Unigene Clusters for ECE2 Gene

Endothelin converting enzyme 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ECE2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - -
SP2: - -
SP3: - - - - - - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:

ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ECE2 Gene

GeneLoc Exon Structure for
ECE2
ECgene alternative splicing isoforms for
ECE2

Expression for ECE2 Gene

mRNA expression in normal human tissues for ECE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECE2 Gene

This gene is overexpressed in Brain - Hypothalamus (7.5), Brain - Cerebellum (5.4), Brain - Nucleus accumbens (basal ganglia) (4.9), and Brain - Cerebellar Hemisphere (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECE2 Gene

SOURCE GeneReport for Unigene cluster for ECE2 Gene Hs.146161

mRNA Expression by UniProt/SwissProt for ECE2 Gene

O60344-ECE2_HUMAN
Tissue specificity: Expressed in brain. Strongly down-regulated in inferior parietal lobe from Alzheimer disease patients (at protein level).
genes like me logo Genes that share expressions with ECE2: view

Orthologs for ECE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECE2 36
  • 99.58 (n)
  • 99.09 (a)
ECE2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ECE2 36
  • 90.3 (n)
  • 94 (a)
ECE2 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECE2 36
  • 89.73 (n)
  • 94 (a)
ECE2 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ece2 36
  • 88.46 (n)
  • 91.94 (a)
Ece2 16
Ece2 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECE2 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 97 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ece2 36
  • 87.36 (n)
  • 91.85 (a)
chicken
(Gallus gallus)
Aves ECE2 36
  • 78.32 (n)
  • 80.41 (a)
ECE2 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECE2 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ece2 36
  • 69.07 (n)
  • 76.73 (a)
zebrafish
(Danio rerio)
Actinopterygii ECE2 37
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009791 36
  • 53.08 (n)
  • 42.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nep1 36
  • 53.06 (n)
  • 41.13 (a)
Nep3 37
  • 42 (a)
OneToMany
CG8358 38
  • 32 (a)
BcDNA:GH07188 38
  • 28 (a)
Nep3 38
  • 46 (a)
CG4721 38
  • 22 (a)
CG14528 38
  • 25 (a)
Nep4 38
  • 38 (a)
CG4725 38
  • 22 (a)
Nep2 38
  • 35 (a)
CG14527 38
  • 27 (a)
CG14523 38
  • 24 (a)
Nep1 38
  • 40 (a)
CG6265 38
  • 46 (a)
CG14529 38
  • 23 (a)
CG5527 38
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea nep-11 36
  • 48.46 (n)
  • 38.81 (a)
nep-19 37
  • 19 (a)
ManyToMany
T25B6.2 38
  • 23 (a)
F18A12.1 38
  • 23 (a)
F54F11.2 38
  • 28 (a)
T16A9.4 38
  • 31 (a)
F39E9.4 38
  • 24 (a)
F26G1.6 38
  • 30 (a)
C49D10.10 38
  • 25 (a)
Y116A8C.4 38
  • 23 (a)
T05A8.4 38
  • 34 (a)
K02F6.9 38
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 40 (a)
OneToMany
Species with no ortholog for ECE2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECE2 Gene

ENSEMBL:
Gene Tree for ECE2 (if available)
TreeFam:
Gene Tree for ECE2 (if available)

Paralogs for ECE2 Gene

Paralogs for ECE2 Gene

Selected SIMAP similar genes for ECE2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ECE2: view

Variants for ECE2 Gene

Sequence variations from dbSNP and Humsavar for ECE2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs843340 -- 184,283,240(-) ATTTC(G/T)CCAAG intron-variant
rs843341 -- 184,282,601(-) ATGAA(A/G)GCAGG intron-variant
rs843354 -- 184,288,607(+) ATTGT(G/T)GTTAG intron-variant
rs843355 -- 184,288,909(+) CCCAG(C/T)ACTTT intron-variant
rs843356 -- 184,251,954(-) ACACA(C/G)AGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ECE2 Gene

Variant ID Type Subtype PubMed ID
nsv829812 CNV Loss 17160897
nsv878057 CNV Loss 21882294
dgv5354n71 CNV Loss 21882294
nsv878060 CNV Loss 21882294
nsv528639 CNV Loss 19592680
nsv4146 CNV Insertion 18451855
nsv878062 CNV Loss 21882294
nsv829813 CNV Loss 17160897
nsv878063 CNV Gain 21882294

Relevant External Links for ECE2 Gene

HapMap Linkage Disequilibrium report
ECE2

Disorders for ECE2 Gene

(2) Novoseek inferred disease relationships for ECE2 Gene

Disease -log(P) Hits PubMed IDs
carcinoma renal cell 31.3 2
tumors 0 1

Relevant External Links for ECE2

Genetic Association Database (GAD)
ECE2
Human Genome Epidemiology (HuGE) Navigator
ECE2
genes like me logo Genes that share disorders with ECE2: view

No data available for UniProtKB/Swiss-Prot for ECE2 Gene

Publications for ECE2 Gene

  1. Human endothelin converting enzyme-2 (ECE2): characterization of mRNA species and chromosomal localization. (PMID: 11718899) Lorenzo M.-N. … Marsden P.A. (Biochim. Biophys. Acta 2001) 2 3 4 23
  2. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PMID: 16567585) Iemitsu M. … Matsuda M. (Hypertension 2006) 3 23 49
  3. Alterations in immunological and neurological gene expression patterns in Alzheimer's disease tissues. (PMID: 17188679) Weeraratna A.T. … Taub D.D. (Exp. Cell Res. 2007) 3 4 23
  4. An intact SAM-dependent methyltransferase fold is encoded by the human endothelin-converting enzyme-2 gene. (PMID: 19089949) Tempel W. … Bochkarev A. (Proteins 2009) 3 4 23
  5. Endothelin-converting enzyme-2 is increased in Alzheimer's disease and up-regulated by Abeta. (PMID: 19541930) Palmer J.C. … Love S. (Am. J. Pathol. 2009) 3 23

Products for ECE2 Gene

Sources for ECE2 Gene

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