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Aliases for ECE2 Gene

Aliases for ECE2 Gene

  • Endothelin Converting Enzyme 2 2 3 5
  • EC 3.4.24.71 61
  • EC 3.4.24 61
  • KIAA0604 4
  • ECE-2 4

External Ids for ECE2 Gene

Previous GeneCards Identifiers for ECE2 Gene

  • GC03M180604
  • GC03P184962
  • GC03P185370
  • GC03P185289
  • GC03P185290
  • GC03P185451
  • GC03P183967
  • GC03P181374

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. Diseases associated with ECE2 include Alzheimer Disease. Among its related pathways are Peptide ligand-binding receptors and A-beta Pathways: Uptake and Degradation. GO annotations related to this gene include methyltransferase activity and metalloendopeptidase activity. An important paralog of this gene is ECE1.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECE2 Gene

Genomics for ECE2 Gene

Regulatory Elements for ECE2 Gene

Enhancers for ECE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G184171 1.6 Ensembl ENCODE dbSUPER 10.5 -74.5 -74489 8.0 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS VWA5B2 ABCF3 EIF2B5 DVL3 ECE2 ALG3 MIR1224 CAMK2N2 AP2M1
GH03G184184 1.4 ENCODE dbSUPER 10.8 -63.6 -63553 3.6 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 VWA5B2 POLR2H ABCF3 EIF2B5 ALG3 ECE2 MIR1224 CAMK2N2 PSMD2 EIF4G1
GH03G184154 1.3 ENCODE dbSUPER 10.6 -93.3 -93254 4.2 HDGF ARID4B SIN3A DMAP1 SLC30A9 ZNF143 KLF13 SP3 SP5 MXD4 EIF2B5 ALG3 ECE2 ABCF3 CAMK2N2 PSMD2 VWA5B2 MIR1224 EIF4G1 SNORD66
GH03G184015 1.4 Ensembl ENCODE 9.4 -232.6 -232648 3.6 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 ABCC5 HTR3C EIF2B5 AP2M1 ALG3 CAMK2N2 ECE2 ABCC5-AS1
GH03G184160 1.2 Ensembl ENCODE dbSUPER 10.5 -88.8 -88793 1.6 HDAC1 FOXA2 CEBPG GATA2 EED FOS L3MBTL2 BHLHE40 E2F5 JUNB EIF2B5 ABCF3 CAMK2N2 ALG3 ECE2 VWA5B2 MIR1224 EIF4G1 SNORD66 PSMD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ECE2 on UCSC Golden Path with GeneCards custom track

Promoters for ECE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162900 -350 2601 HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for ECE2 Gene

Chromosome:
3
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

Genes around ECE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    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

Selected DME Specific Peptides for ECE2 Gene

O60344:
  • FPAGILQ
  • TLGENIADNGG
  • HAFDDQG

Post-translational modifications for ECE2 Gene

  • Glycosylation at Asn324, Asn384, and isoforms=5, 2, 3429
  • Modification sites at PhosphoSitePlus

Domains & Families for ECE2 Gene

Gene Families for ECE2 Gene

Suggested Antigen Peptide Sequences for ECE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60344

UniProtKB/Swiss-Prot:

ECE2_HUMAN :
  • In the N-terminal section; belongs to the methyltransferase superfamily.
Family:
  • In the N-terminal section; belongs to the methyltransferase superfamily.
  • In the C-terminal section; belongs to the peptidase M13 family.
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:0003824 catalytic activity IEA --
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 25416956
GO:0008168 methyltransferase activity IEA --
GO:0008233 peptidase activity 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ECE2

miRNA for ECE2 Gene

miRTarBase miRNAs that target ECE2

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECE2 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
nucleus 3
cytosol 2
endosome 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 IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030658 transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with ECE2: view

Pathways & Interactions for ECE2 Gene

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

Pathways by source for ECE2 Gene

Gene Ontology (GO) - Biological Process for ECE2 Gene

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

No data available for SIGNOR curated interactions for ECE2 Gene

Drugs & Compounds for ECE2 Gene

(3) Drugs for ECE2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x7.5), Brain - Cerebellum (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.9), and Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for ECE2 Gene

This gene is overexpressed in Liver (47.4), Ovary (11.9), and Prostate (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ECE2 Gene



Protein tissue co-expression partners for ECE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ECE2 Gene:

ECE2

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).

Evidence on tissue expression from TISSUES for ECE2 Gene

  • Nervous system(4.6)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with ECE2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ECE2 Gene

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 34 35
  • 99.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ECE2 34 35
  • 90.3 (n)
dog
(Canis familiaris)
Mammalia ECE2 34 35
  • 89.73 (n)
mouse
(Mus musculus)
Mammalia Ece2 34 16 35
  • 88.46 (n)
rat
(Rattus norvegicus)
Mammalia Ece2 34
  • 87.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ECE2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECE2 34 35
  • 78.32 (n)
lizard
(Anolis carolinensis)
Reptilia ECE2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ece2 34
  • 69.07 (n)
zebrafish
(Danio rerio)
Actinopterygii ECE2 35
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009791 34
  • 53.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nep1 36 34
  • 53.06 (n)
CG6265 36
  • 46 (a)
Nep3 36 35
  • 46 (a)
Nep4 36
  • 38 (a)
Nep2 36
  • 35 (a)
CG8358 36
  • 32 (a)
BcDNA:GH07188 36
  • 28 (a)
CG14527 36
  • 27 (a)
CG5527 36
  • 26 (a)
CG14528 36
  • 25 (a)
CG14523 36
  • 24 (a)
CG14529 36
  • 23 (a)
CG4721 36
  • 22 (a)
CG4725 36
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea nep-11 34
  • 48.46 (n)
T05A8.4 36
  • 34 (a)
T16A9.4 36
  • 31 (a)
F26G1.6 36
  • 30 (a)
F54F11.2 36
  • 28 (a)
C49D10.10 36
  • 25 (a)
F39E9.4 36
  • 24 (a)
F18A12.1 36
  • 23 (a)
T25B6.2 36
  • 23 (a)
Y116A8C.4 36
  • 23 (a)
K02F6.9 36
  • 21 (a)
nep-19 35
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for ECE2 was found in the sources mined by GeneCards:
  • 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

(6) 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
rs387906273 Pathogenic 184,248,776(-) GTGGG(C/T)ATCAC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs747569137 Uncertain significance 184,248,966(+) GTGGG(C/G)CCACC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs763727038 Uncertain significance 184,248,890(+) CCCTC(C/T)GCCTG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs767695697 Uncertain significance 184,248,900(+) GGGCC(A/G)CGGAA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs775068875 Uncertain significance 184,248,922(+) GCGTT(G/T)CCGCA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv961e214 CNV gain 21293372
esv3349613 CNV duplication 20981092
nsv1074644 CNV deletion 25765185
nsv4146 CNV insertion 18451855
nsv528639 CNV loss 19592680
nsv592666 CNV loss 21841781
nsv829812 CNV loss 17160897
nsv829813 CNV loss 17160897

Variation tolerance for ECE2 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECE2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECE2 Gene

Disorders for ECE2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ECE2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search ECE2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ECE2

Genetic Association Database (GAD)
ECE2
Human Genome Epidemiology (HuGE) Navigator
ECE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECE2
genes like me logo Genes that share disorders with ECE2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. 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 22 64
  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 22 64
  4. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PMID: 16567585) Iemitsu M. … Matsuda M. (Hypertension 2006) 3 22 46 64
  5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks C.E. … Murray A. (Nat. Genet. 2010) 3 46 64

Products for ECE2 Gene

Sources for ECE2 Gene

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