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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 4 56
  • TRNase Z 2 3 4
  • RNase Z 2 3 4
  • HPc2 3 4
  • Putative Prostate Cancer Susceptibility Protein HPC2/ELAC2 3
  • Zinc Phosphodiesterase ELAC Protein 2 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. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for ELAC2 Gene

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

Genomics for ELAC2 Gene

GeneHancer (GH) Regulatory Elements for ELAC2 Gene

Promoters and enhancers for ELAC2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I013016 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 581.8 +0.3 345 2.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ELAC2 PIR40121
GH17I012983 Enhancer 0.9 Ensembl ENCODE 20.5 +33.1 33136 2.6 MEIS2 FOXA2 MAX RAD21 YY1 ZFHX2 POLR2A FOS EGR2 RXRA GC17P012984 ELAC2 PIR37245 ARHGAP44
GH17I013024 Enhancer 0.9 Ensembl ENCODE 18.1 -6.5 -6514 1 CTCF CLOCK RB1 ZSCAN4 MZF1 CDC5L RAD21 PHF20 ZBTB48 SMC3 ELAC2 CDRT15P1 ENSG00000273098
GH17I013002 Enhancer 0.6 ENCODE 22.9 +15.1 15084 0.7 CTCF ZNF654 TRIM22 ZNF76 RAD21 POLR2A GATAD1 IKZF1 ZNF143 SMC3 ELAC2 ARHGAP44 PIR40121
GH17I012976 Enhancer 0.4 ENCODE 17 +40.9 40882 1 SP1 REST ELAC2 ENSG00000280168 ENSG00000277621 ARHGAP44
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELAC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELAC2 gene promoter:

Genomic Locations for ELAC2 Gene

Genomic Locations for ELAC2 Gene
26,576 bases
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:
    Recommended name:
    Zinc phosphodiesterase ELAC protein 2
    Protein Accession:
    Secondary Accessions:
    • B4DPL9
    • Q6IA94
    • Q9HAS8
    • Q9HAS9
    • Q9NVT1

    Protein attributes for ELAC2 Gene

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

    Alternative splice isoforms for ELAC2 Gene


neXtProt entry for ELAC2 Gene

Selected DME Specific Peptides for ELAC2 Gene


Post-translational modifications for ELAC2 Gene

  • Ubiquitination at posLast=152152, Lys332, Lys476, Lys495, Lys571, Lys731, and Lys811

Domains & Families for ELAC2 Gene

Gene Families for ELAC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ELAC2 Gene

Suggested Antigen Peptide Sequences for ELAC2 Gene

Graphical View of Domain Structure for InterPro Entry



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

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

Phenotypes From GWAS Catalog for ELAC2 Gene

Gene Ontology (GO) - Molecular Function for ELAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004549 tRNA-specific ribonuclease activity EXP 12711671
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ELAC2: view
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 Models for ELAC2 Gene

MGI Knock Outs for ELAC2:

Animal Model Products

CRISPR Products

Clone Products

No data available for 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

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 ELAC2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ELAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 21593607
GO:0005654 nucleoplasm TAS,IDA --
GO:0005739 mitochondrion IDA,IEA 21593607
GO:0005759 mitochondrial matrix TAS --
GO:0042645 mitochondrial nucleoid IEA --
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 --
GO:0042780 tRNA 3-end processing TAS --
GO:0072684 mitochondrial tRNA 3-trailer cleavage, endonucleolytic IMP 21593607
GO:0090646 mitochondrial tRNA processing TAS --
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:

CRISPR Products

Clone Products

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: - -
SP6: - -
SP9: -

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c

Relevant External Links for ELAC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ELAC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ELAC2 Gene

Protein tissue co-expression partners for ELAC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELAC2 Gene:


SOURCE GeneReport for Unigene cluster for ELAC2 Gene:


mRNA Expression by UniProt/SwissProt for ELAC2 Gene:

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.

Evidence on tissue expression from TISSUES for ELAC2 Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Liver(4.2)
  • Kidney(2.5)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELAC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • heart
  • heart valve
  • lung
  • prostate
  • blood vessel
  • spinal cord
genes like me logo Genes that share expression patterns with ELAC2: view

Primer 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
(Pan troglodytes)
Mammalia ELAC2 33 34
  • 99.35 (n)
(Canis familiaris)
Mammalia ELAC2 33 34
  • 84.33 (n)
(Rattus norvegicus)
Mammalia Elac2 33
  • 82.62 (n)
(Mus musculus)
Mammalia Elac2 33 16 34
  • 82.21 (n)
(Bos Taurus)
Mammalia ELAC2 33 34
  • 81.91 (n)
(Monodelphis domestica)
Mammalia ELAC2 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia ELAC2 34
  • 53 (a)
(Gallus gallus)
Aves ELAC2 33 34
  • 65.8 (n)
(Anolis carolinensis)
Reptilia ELAC2 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia elac2 33
  • 64.89 (n)
(Danio rerio)
Actinopterygii elac2 33 34
  • 62.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009743 33
  • 47.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta JhI-1 35 33 34
  • 47.19 (n)
(Caenorhabditis elegans)
Secernentea hoe-1 33 34
  • 42.79 (n)
E04A4.4 35
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRZ1 36 34
  • 24 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TRZ3 33
  • 46.51 (n)
(Oryza sativa)
Liliopsida Os01g0232300 33
  • 47.67 (n)
Os.27302 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trz1 33
  • 42.73 (n)
Species where no ortholog for ELAC2 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)
  • 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

Gene Tree for ELAC2 (if available)
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 Variation AA Info Type
rs1060502161 uncertain-significance, pathogenic, Combined oxidative phosphorylation deficiency 17, not provided 13,016,933(-) CT/A splice_acceptor_variant
rs1060502162 uncertain-significance, Combined oxidative phosphorylation deficiency 17 12,992,946(-) G/A coding_sequence_variant, missense_variant
rs1060502163 uncertain-significance, Combined oxidative phosphorylation deficiency 17 13,016,904(-) A/G coding_sequence_variant, missense_variant
rs1085307065 uncertain-significance, Combined oxidative phosphorylation deficiency 17, Prostate cancer, hereditary, 2 12,995,939(-) C/G splice_donor_variant
rs117582762 likely-benign, benign, not specified, Combined oxidative phosphorylation deficiency 17 12,995,946(-) G/A coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv1070391 CNV deletion 25765185
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)

Additional Variant Information for ELAC2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for ELAC2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 17
  • coxpd17
prostate cancer, hereditary, 2
  • hpc2
prostate cancer
  • prostate cancer, susceptibility to
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
male reproductive organ cancer
  • male genital cancer
- elite association - COSMIC cancer census association via MalaCards
Search ELAC2 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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:12711671, 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.

Additional Disease Information for ELAC2

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

No data available for Genatlas for ELAC2 Gene

Publications for ELAC2 Gene

  1. ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. (PMID: 12783937) Severi G … Hopper JL (Journal of the National Cancer Institute 2003) 3 4 22 44 58
  2. Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. (PMID: 12515253) Camp NJ … Tavtigian SV (American journal of human genetics 2002) 3 4 22 44 58
  3. Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. (PMID: 12522685) Fujiwara H … Tavtigian SV (Journal of human genetics 2002) 3 4 22 44 58
  4. Association of HPC2/ELAC2 genotypes and prostate cancer. (PMID: 10986046) Rebbeck TR … Malkowicz SB (American journal of human genetics 2000) 2 3 4 44 58
  5. Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men. (PMID: 20086112) Beuten J … Leach RJ (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 22 44 58

Products for ELAC2 Gene

Sources for ELAC2 Gene

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