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Aliases for ECE2 Gene

Aliases for ECE2 Gene

  • Endothelin Converting Enzyme 2 2 3 5
  • EC 3.4.24.71 56
  • EC 3.4.24 56
  • 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

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 Signaling by GPCR. Gene Ontology (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 amyloid-beta peptide accumulation in brain. May also have methyltransferase activity.

Additional gene information for ECE2 Gene

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

Genomics for ECE2 Gene

GeneHancer (GH) Regulatory Elements for ECE2 Gene

Promoters and enhancers for ECE2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I184247 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.3 -325 2.7 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 ZNF213 ALG3 ECE2 EEF1AKMT4 EEF1AKMT4-ECE2 POLR2H RPS3P3 PARL VWA5B2 DVL3 EIF2B5
GH03I184275 Promoter 0.6 EPDnew 556.4 +26.4 26359 0.1 EZH2 ECE2 CAMK2N2 PSMD2 EEF1AKMT4 EEF1AKMT4-ECE2
GH03I184171 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.5 -74.5 -74488 8 HDGF ARID4B NEUROD1 SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF143 FOS AP2M1 VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 ECE2 EEF1AKMT4-ECE2 EEF1AKMT4 MIR1224
GH03I184184 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -63.6 -63553 3.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B ZNF766 ABCF3 VWA5B2 POLR2H EIF2B5 ALG3 EEF1AKMT4 EEF1AKMT4-ECE2 ECE2 MIR1224 CAMK2N2
GH03I184154 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.6 -93.3 -93253 4.2 HDGF FOXA2 ARID4B SIN3A DMAP1 SLC30A9 ZNF121 GLIS2 ELK1 ZNF143 DVL3 EIF2B5 RPS3P3 POLR2H ALG3 ECE2 EEF1AKMT4-ECE2 EEF1AKMT4 ABCF3 CAMK2N2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ECE2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ECE2 gene promoter:

Genomic Locations for ECE2 Gene

Genomic Locations for ECE2 Gene
chr3:184,249,650-184,293,031
(GRCh38/hg38)
Size:
43,382 bases
Orientation:
Plus strand
chr3:183,967,438-184,010,819
(GRCh37/hg19)

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 posLast=429429
  • Modification sites at PhosphoSitePlus

Domains & Families for ECE2 Gene

Gene Families for ECE2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 amyloid-beta peptide accumulation in brain. May also have methyltransferase activity.

Enzyme Numbers (IUBMB) for ECE2 Gene

Phenotypes From GWAS Catalog 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 TAS,IEA --
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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

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:

Clone 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

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 33 34
  • 99.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ECE2 33 34
  • 90.3 (n)
dog
(Canis familiaris)
Mammalia ECE2 33 34
  • 89.73 (n)
mouse
(Mus musculus)
Mammalia Ece2 33 16 34
  • 88.46 (n)
rat
(Rattus norvegicus)
Mammalia Ece2 33
  • 87.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ECE2 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECE2 33 34
  • 78.32 (n)
lizard
(Anolis carolinensis)
Reptilia ECE2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ece2 33
  • 69.07 (n)
zebrafish
(Danio rerio)
Actinopterygii ECE2 34
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009791 33
  • 53.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nep1 35 33
  • 53.06 (n)
CG6265 35
  • 46 (a)
Nep3 35 34
  • 46 (a)
Nep4 35
  • 38 (a)
Nep2 35
  • 35 (a)
CG8358 35
  • 32 (a)
BcDNA:GH07188 35
  • 28 (a)
CG14527 35
  • 27 (a)
CG5527 35
  • 26 (a)
CG14528 35
  • 25 (a)
CG14523 35
  • 24 (a)
CG14529 35
  • 23 (a)
CG4721 35
  • 22 (a)
CG4725 35
  • 22 (a)
worm
(Caenorhabditis elegans)
Secernentea nep-11 33
  • 48.46 (n)
T05A8.4 35
  • 34 (a)
T16A9.4 35
  • 31 (a)
F26G1.6 35
  • 30 (a)
F54F11.2 35
  • 28 (a)
C49D10.10 35
  • 25 (a)
F39E9.4 35
  • 24 (a)
F18A12.1 35
  • 23 (a)
T25B6.2 35
  • 23 (a)
Y116A8C.4 35
  • 23 (a)
K02F6.9 35
  • 21 (a)
nep-19 34
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs387906273 pathogenic, Congenital disorder of glycosylation type 1D 184,248,776(+) G/A upstream_transcript_variant
rs747569137 uncertain-significance, Congenital disorder of glycosylation 184,248,966(+) C/G/T upstream_transcript_variant
rs763727038 uncertain-significance, likely-benign, Congenital disorder of glycosylation, not specified 184,248,890(+) T/C upstream_transcript_variant
rs767695697 uncertain-significance, Congenital disorder of glycosylation 184,248,900(+) G/A upstream_transcript_variant
rs775068875 uncertain-significance, Congenital disorder of glycosylation 184,248,922(+) T/G upstream_transcript_variant

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)

Additional Variant Information for ECE2 Gene

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

SNP Genotyping and Copy Number Assay Products

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
  • ad
- elite association - COSMIC cancer census association via MalaCards
Search ECE2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ECE2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MN … Marsden PA (Biochimica et biophysica acta 2001) 2 3 4 22 58
  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 58
  3. Alterations in immunological and neurological gene expression patterns in Alzheimer's disease tissues. (PMID: 17188679) Weeraratna AT … Taub DD (Experimental cell research 2007) 3 4 22 58
  4. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PMID: 16567585) Iemitsu M … Matsuda M (Hypertension (Dallas, Tex. : 1979) 2006) 3 22 44 58
  5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58

Products for ECE2 Gene

Sources for ECE2 Gene

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