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Aliases for ELAC2 Gene

Aliases for ELAC2 Gene

  • ElaC Ribonuclease Z 2 2 3 5
  • Heredity Prostate Cancer Protein 2 3 4
  • ElaC Homolog Protein 2 3 4
  • TRNA 3 Endonuclease 2 3 4
  • TRNase Z (Long Form) 2 3
  • Ribonuclease Z 2 3 4
  • EC 3.1.26.11 4 63
  • TRNase Z 2 3 4
  • RNase Z 2 3 4
  • HPc2 3 4
  • Putative Prostate Cancer Susceptibility Protein HPC2/ELAC2 3
  • ElaC (E. Coli) Homolog 2 2
  • ElaC Homolog 2 (E. Coli) 2
  • ElaC-Like Protein 2 3
  • ElaC Homolog 2 3
  • COXPD17 3
  • ELC2 3

External Ids for ELAC2 Gene

Previous GeneCards Identifiers for ELAC2 Gene

  • GC17M013261
  • GC17M014010
  • GC17M012838
  • GC17M013096
  • GC17M012836
  • GC17M012894

Summaries for ELAC2 Gene

Entrez Gene Summary for ELAC2 Gene

  • The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for ELAC2 Gene

ELAC2 (ElaC Ribonuclease Z 2) is a Protein Coding gene. Diseases associated with ELAC2 include combined oxidative phosphorylation deficiency 17 and prostate cancer, hereditary, 2. Among its related pathways are Gene Expression and tRNA processing. GO annotations related to this gene include poly(A) RNA binding and 3-tRNA processing endoribonuclease activity.

UniProtKB/Swiss-Prot for ELAC2 Gene

  • Zinc phosphodiesterase, which displays mitochondrial tRNA 3-processing endonuclease activity. Involved in tRNA maturation, by removing a 3-trailer from precursor tRNA.

Gene Wiki entry for ELAC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELAC2 Gene

Genomics for ELAC2 Gene

Regulatory Elements for ELAC2 Gene

Promoters for ELAC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELAC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELAC2 Gene

Chromosome:
17
Start:
12,991,612 bp from pter
End:
13,018,187 bp from pter
Size:
26,576 bases
Orientation:
Minus strand

Genomic View for ELAC2 Gene

Genes around ELAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELAC2 Gene

Proteins for ELAC2 Gene

  • Protein details for ELAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQ52-RNZ2_HUMAN
    Recommended name:
    Zinc phosphodiesterase ELAC protein 2
    Protein Accession:
    Q9BQ52
    Secondary Accessions:
    • B4DPL9
    • Q6IA94
    • Q9HAS8
    • Q9HAS9
    • Q9NVT1

    Protein attributes for ELAC2 Gene

    Size:
    826 amino acids
    Molecular mass:
    92219 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer (By similarity). Interacts with PTCD1.

    Alternative splice isoforms for ELAC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELAC2 Gene

Proteomics data for ELAC2 Gene at MOPED

Post-translational modifications for ELAC2 Gene

  • Ubiquitination at Lys 152, Lys 332, Lys 476, Lys 495, Lys 571, Lys 731, and Lys 811
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ELAC2 Gene

Protein Domains for ELAC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ELAC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BQ52

UniProtKB/Swiss-Prot:

RNZ2_HUMAN :
  • Belongs to the RNase Z family.
Family:
  • Belongs to the RNase Z family.
genes like me logo Genes that share domains with ELAC2: view

No data available for Gene Families for ELAC2 Gene

Function for ELAC2 Gene

Molecular function for ELAC2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage of RNA, removing extra 3 nucleotides from tRNA precursor, generating 3 termini of tRNAs. A 3-hydroxy group is left at the tRNA terminus and a 5-phosphoryl group is left at the trailer molecule.
UniProtKB/Swiss-Prot Function:
Zinc phosphodiesterase, which displays mitochondrial tRNA 3-processing endonuclease activity. Involved in tRNA maturation, by removing a 3-trailer from precursor tRNA.

Enzyme Numbers (IUBMB) for ELAC2 Gene

genes like me logo Genes that share phenotypes with ELAC2: view

Human Phenotype Ontology for ELAC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ELAC2 Gene

Localization for ELAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELAC2 Gene

Mitochondrion. Nucleus. Note=Mainly mitochondrial.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELAC2 Gene COMPARTMENTS Subcellular localization image for ELAC2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
chloroplast 1
cytosol 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ELAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ELAC2: view

Pathways & Interactions for ELAC2 Gene

genes like me logo Genes that share pathways with ELAC2: view

Pathways by source for ELAC2 Gene

Gene Ontology (GO) - Biological Process for ELAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with ELAC2: view

No data available for SIGNOR curated interactions for ELAC2 Gene

Drugs & Compounds for ELAC2 Gene

(2) Drugs for ELAC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ELAC2: view

Transcripts for ELAC2 Gene

Unigene Clusters for ELAC2 Gene

ElaC homolog 2 (E. coli):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELAC2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a ·
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5:
SP6: - -
SP7:
SP8:
SP9: -
SP10:

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ELAC2 Gene

GeneLoc Exon Structure for
ELAC2
ECgene alternative splicing isoforms for
ELAC2

Expression for ELAC2 Gene

mRNA expression in normal human tissues for ELAC2 Gene

Protein differential expression in normal tissues from HIPED for ELAC2 Gene

This gene is overexpressed in Heart (32.3) and Lung (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ELAC2 Gene



SOURCE GeneReport for Unigene cluster for ELAC2 Gene Hs.434232

mRNA Expression by UniProt/SwissProt for ELAC2 Gene

Q9BQ52-RNZ2_HUMAN
Tissue specificity: Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes.
genes like me logo Genes that share expression patterns with ELAC2: view

Protein tissue co-expression partners for ELAC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ELAC2 Gene

Orthologs for ELAC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELAC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELAC2 36
  • 99 (a)
OneToOne
ELAC2 35
  • 99.35 (n)
  • 98.91 (a)
cow
(Bos Taurus)
Mammalia ELAC2 36
  • 83 (a)
OneToOne
ELAC2 35
  • 81.91 (n)
  • 84.2 (a)
dog
(Canis familiaris)
Mammalia ELAC2 35
  • 84.33 (n)
  • 83.71 (a)
ELAC2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elac2 16
Elac2 36
  • 82 (a)
OneToOne
Elac2 35
  • 82.21 (n)
  • 82.74 (a)
oppossum
(Monodelphis domestica)
Mammalia ELAC2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELAC2 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elac2 35
  • 82.62 (n)
  • 83.03 (a)
chicken
(Gallus gallus)
Aves ELAC2 36
  • 58 (a)
OneToOne
ELAC2 35
  • 65.8 (n)
  • 61.58 (a)
lizard
(Anolis carolinensis)
Reptilia ELAC2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elac2 35
  • 64.89 (n)
  • 63.81 (a)
zebrafish
(Danio rerio)
Actinopterygii elac2 35
  • 62.8 (n)
  • 60.51 (a)
elac2 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009743 35
  • 47.73 (n)
  • 38.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta JhI-1 35
  • 47.19 (n)
  • 38.81 (a)
JhI-1 37
  • 33 (a)
JhI-1 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea E04A4.4 37
  • 26 (a)
hoe-1 36
  • 24 (a)
OneToOne
hoe-1 35
  • 42.79 (n)
  • 31.34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRZ1 36
  • 24 (a)
OneToOne
TRZ1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons TRZ3 35
  • 46.51 (n)
  • 37.41 (a)
rice
(Oryza sativa)
Liliopsida Os.27302 35
Os01g0232300 35
  • 47.67 (n)
  • 40.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trz1 35
  • 42.73 (n)
  • 32.99 (a)
Species with no ortholog for ELAC2:
  • 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)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ELAC2 Gene

ENSEMBL:
Gene Tree for ELAC2 (if available)
TreeFam:
Gene Tree for ELAC2 (if available)

Paralogs for ELAC2 Gene

No data available for Paralogs for ELAC2 Gene

Variants for ELAC2 Gene

Sequence variations from dbSNP and Humsavar for ELAC2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_017425 Prostate cancer, hereditary, 2 (HPC2)
rs4792311 Prostate cancer, hereditary, 2 (HPC2) 13,011,692(+) CATTC(A/G)ACTCG intron-variant, reference, missense
VAR_017427 Prostate cancer, hereditary, 2 (HPC2)
VAR_017428 Prostate cancer, hereditary, 2 (HPC2)
rs119484087 Prostate cancer, hereditary, 2 (HPC2) 12,995,006(-) AGTGG(A/G/T)AAGAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ELAC2 Gene

Variant ID Type Subtype PubMed ID
nsv1986 CNV Insertion 18451855

Variation tolerance for ELAC2 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.88; 79.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELAC2 Gene

HapMap Linkage Disequilibrium report
ELAC2
Human Gene Mutation Database (HGMD)
ELAC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELAC2 Gene

Disorders for ELAC2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ELAC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 17
  • combined oxidative phosphorylation defect type 17
prostate cancer, hereditary, 2
  • prostate cancer, hereditary, 2, susceptibility to
prostate cancer
  • prostate cancer, hereditary, 5
prostate cancer susceptibility
reticulate acropigmentation of kitamura
  • rapk
- elite association - COSMIC cancer census association via MalaCards
Search ELAC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RNZ2_HUMAN
  • Prostate cancer, hereditary, 2 (HPC2) [MIM:614731]: A condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269 PubMed:10986046, ECO:0000269 PubMed:11175785, ECO:0000269 PubMed:11507049, ECO:0000269 PubMed:11522646, ECO:0000269 PubMed:12515253, ECO:0000269 PubMed:12522685, ECO:0000269 PubMed:12783937, ECO:0000269 PubMed:15489334, ECO:0000269 PubMed:18987736, ECO:0000269 Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Combined oxidative phosphorylation deficiency 17 (COXPD17) [MIM:615440]: An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. {ECO:0000269 PubMed:23849775}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ELAC2

Genetic Association Database (GAD)
ELAC2
Human Genome Epidemiology (HuGE) Navigator
ELAC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELAC2
genes like me logo Genes that share disorders with ELAC2: view

No data available for Genatlas for ELAC2 Gene

Publications for ELAC2 Gene

  1. Association of HPC2/ELAC2 genotypes and prostate cancer. (PMID: 10986046) Rebbeck T.R. … Malkowicz S.B. (Am. J. Hum. Genet. 2000) 2 3 4 48 67
  2. ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells. (PMID: 16636667) Noda D. … Kato M. (Oncogene 2006) 2 3 23
  3. Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation. (PMID: 21559454) Rossmanith W. (PLoS ONE 2011) 2 3
  4. Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men. (PMID: 20086112) Beuten J. … Leach R.J. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 23
  5. Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study. (PMID: 18375959) Chen Y.C. … J Hunter D. (Carcinogenesis 2008) 3 23

Products for ELAC2 Gene

Sources for ELAC2 Gene

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