Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ELAC2 (elaC homolog 2 (E. coli))

Written2008-02Yang Chen, Sean Tavtigian, Donna Shattuck
Myriad Genetics, Inc., 320 Wakara Way, Salt Lake City, UT 84108, USA

(Note : for Links provided by Atlas : click)


Alias (NCBI)HPC2
TRZ1 (tRNaseZL)
HGNC Alias symbFLJ10530
HGNC Alias nametRNase Z (long form)
HGNC Previous nameelaC (E. coli) homolog 2
 elaC homolog 2 (E. coli)
LocusID (NCBI) 60528
Atlas_Id 40437
Location 17p12  [Link to chromosome band 17p12]
Location_base_pair Starts at 12991612 and ends at 13018064 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping ELAC2.png]
Local_order Telomeric to HS3ST3A1 and centromeric to KIAA0672.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DLST (14q24.3)::ELAC2 (17p12)ELAC2 (17p12)::COX10 (17p12)RPSAP52 (12q14.3)::ELAC2 (17p12)
Note There is a human paralog of this gene on chromosome 18 called ELAC1 that is homologous to the C-terminal half of ELAC2.


Note Ubiquitously expressed in a variety of tissues, tumors and developmental stages.
Description The genomic size of ELAC2 gene is about 25.6 kb representing a mRNA of 2966 bp with 26 exons.
Transcription There is no evidence of alternative splicing of the transcript.
Pseudogene No known pseudogenes.


Description ELAC2 gene encodes a protein of 826 amino acids. Orthologs are found in Eukaryotes including M. musculus, R. norvegicus, C. elegans, D. melanogaster, S. cerevisiae, S. pombe and A. thaliana.
Expression Not determined.
Localisation Not determined. But is implicated in nucleus upon overexpression in cell lines. Yeast ortholog (TRZ1p) is detected in cytosol, nucleus and mitochondria via large-scale analysis with GFP tagged gene product.
Function ELAC2 has tRNA processing activity as detected by in vitro biochemistry assays. The N-terminus of ELAC2 is required for the Rnase 65 activity. The C-terminus (481-826 aa) of ELAC2, which is homologous to ELAC1, possesses tRNA 3' processing endoribonuclease acitivity (tRNaseZ). Overexpressed ELAC2 binds gamma-tubulin complex and is involved in cell cycle regulation. ELAC2 has also been shown to potentiate TGF-beta-induced growth arrest of prostate cells via over-expression upon transfection and down-regulation via siRNA.


Germinal One pedigree-specific insertion/frameshift, 1641insG, resulting in frameshift after L547, and leading to termination after the miscoding of 67 residues. Four missense variants, S217L, A541T, E622V and R781H.
Somatic Not determined.

Implicated in

Entity Prostate Cancer
Note TGF-beta signaling mediated growth arrest via physical interactions with Smad2 / Smad3 and FAST-1, and potentiation of Smad2-driven (ARE)2-Luciferease reporter activity. Also implicated in RNA processing.
Disease Hereditary prostate cancer and sporadic prostate cancer.


Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z.
Chen Y, Beck A, Davenport C, Chen Y, Shattuck D, Tavtigian SV
BMC molecular biology. 2005 ; 6 (1) : page 12.
PMID 15892892
Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.
Fujiwara H, Emi M, Nagai H, Nishimura T, Konishi N, Kubota Y, Ichikawa T, Takahashi S, Shuin T, Habuchi T, Ogawa O, Inoue K, Skolnick MH, Swensen J, Camp NJ, Tavtigian SV
Journal of human genetics. 2002 ; 47 (12) : 641-648.
PMID 12522685
Assigning function to yeast proteins by integration of technologies.
Hazbun TR, Malmström L, Anderson S, Graczyk BJ, Fox B, Riffle M, Sundin BA, Aranda JD, McDonald WH, Chiu CH, Snydsman BE, Bradley P, Muller EG, Fields S, Baker D, Yates JR 3rd, Davis TN
Molecular cell. 2003 ; 12 (6) : 1353-1365.
PMID 14690591
Global analysis of protein localization in budding yeast.
Huh WK, Falvo JV, Gerke LC, Carroll AS, Howson RW, Weissman JS, O'Shea EK
Nature. 2003 ; 425 (6959) : 686-691.
PMID 14562095
The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex.
Korver W, Guevara C, Chen Y, Neuteboom S, Bookstein R, Tavtigian S, Lees E
International journal of cancer. Journal international du cancer. 2003 ; 104 (3) : 283-288.
PMID 12569551
ELAC2, a putative prostate cancer susceptibility gene product, potentiates TGF-beta/Smad-induced growth arrest of prostate cells.
Noda D, Itoh S, Watanabe Y, Inamitsu M, Dennler S, Itoh F, Koike S, Danielpour D, ten Dijke P, Kato M
Oncogene. 2006 ; 25 (41) : 5591-5600.
PMID 16636667
ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer.
Rökman A, Ikonen T, Mononen N, Autio V, Matikainen MP, Koivisto PA, Tammela TL, Kallioniemi OP, Schleutker J
Cancer research. 2001 ; 61 (16) : 6038-6041.
PMID 11507049
Polymorphisms in the prostate cancer susceptibility gene HPC2/ELAC2 in multiplex families and healthy controls.
Suarez BK, Gerhard DS, Lin J, Haberer B, Nguyen L, Kesterson NK, Catalona WJ
Cancer research. 2001 ; 61 (13) : 4982-4984.
PMID 11431329
The N-terminal half-domain of the long form of tRNase Z is required for the RNase 65 activity.
Takaku H, Minagawa A, Takagi M, Nashimoto M
Nucleic acids research. 2004 ; 32 (15) : 4429-4438.
PMID 15317868
A candidate prostate cancer susceptibility gene at chromosome 17p.
Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AM, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA
Nature genetics. 2001 ; 27 (2) : 172-180.
PMID 11175785
Role of HPC2/ELAC2 in hereditary prostate cancer.
Wang L, McDonnell SK, Elkins DA, Slager SL, Christensen E, Marks AF, Cunningham JM, Peterson BJ, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN
Cancer research. 2001 ; 61 (17) : 6494-6499.
PMID 11522646


This paper should be referenced as such :
Chen, Y ; Tavtigian, S ; Shattuck, D. ELAC2 (elaC homolog 2 (E
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):430-431.
Free journal version : [ pdf ]   [ DOI ]

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Hereditary prostate cancer

External links


HGNC (Hugo)ELAC2   14198
Atlas Explorer : (Salamanque)ELAC2
Entrez_Gene (NCBI)ELAC2    elaC ribonuclease Z 2
AliasesCOXPD17; ELC2; HPC2
GeneCards (Weizmann)ELAC2
Ensembl hg19 (Hinxton)ENSG00000006744 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006744 [Gene_View]  ENSG00000006744 [Sequence]  chr17:12991612-13018064 [Contig_View]  ELAC2 [Vega]
ICGC DataPortalENSG00000006744
TCGA cBioPortalELAC2
Genatlas (Paris)ELAC2
SOURCE (Princeton)ELAC2
Genetics Home Reference (NIH)ELAC2
Genomic and cartography
GoldenPath hg38 (UCSC)ELAC2  -     chr17:12991612-13018064 -  17p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELAC2  -     17p12   [Description]    (hg19-Feb_2009)
GoldenPathELAC2 - 17p12 [CytoView hg19]  ELAC2 - 17p12 [CytoView hg38]
Genome Data Viewer NCBIELAC2 [Mapview hg19]  
OMIM605367   614731   615440   
Gene and transcription
Genbank (Entrez)AA706335 AF304370 AK001392 AK074244 AK094012
RefSeq transcript (Entrez)NM_001165962 NM_018127 NM_173717
Consensus coding sequences : CCDS (NCBI)ELAC2
Gene ExpressionELAC2 [ NCBI-GEO ]   ELAC2 [ EBI - ARRAY_EXPRESS ]   ELAC2 [ SEEK ]   ELAC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ELAC2 [ Firebrowse - Broad ]
GenevisibleExpression of ELAC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60528
GTEX Portal (Tissue expression)ELAC2
Human Protein AtlasENSG00000006744-ELAC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQ52   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQ52  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQ52
Catalytic activity : Enzyme3.1.26.11 [ Enzyme-Expasy ] [ IntEnz-EBI ] [ BRENDA ] [ KEGG ]   [ MEROPS ]
Domains : Interpro (EBI)Metallo-B-lactamas    RibonucZ/Hydroxyglut_hydro    tRNase_Z_dom   
Domain families : Pfam (Sanger)Lactamase_B_2 (PF12706)    Lactamase_B_4 (PF13691)   
Domain families : Pfam (NCBI)pfam12706    pfam13691   
Conserved Domain (NCBI)ELAC2
AlphaFold pdb e-kbQ9BQ52   
Human Protein Atlas [tissue]ENSG00000006744-ELAC2 [tissue]
Protein Interaction databases
IntAct (EBI)Q9BQ52
Ontologies - Pathways
Ontology : AmiGORNA binding  endoribonuclease activity  tRNA-specific ribonuclease activity  nucleus  nucleoplasm  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  tRNA catabolic process  mitochondrial nucleoid  tRNA 3'-end processing  3'-tRNA processing endoribonuclease activity  metal ion binding  mitochondrial tRNA 3'-trailer cleavage, endonucleolytic  mitochondrial tRNA 3'-trailer cleavage, endonucleolytic  mitochondrial tRNA processing  
Ontology : EGO-EBIRNA binding  endoribonuclease activity  tRNA-specific ribonuclease activity  nucleus  nucleoplasm  nucleoplasm  mitochondrion  mitochondrion  mitochondrial matrix  cytosol  tRNA catabolic process  mitochondrial nucleoid  tRNA 3'-end processing  3'-tRNA processing endoribonuclease activity  metal ion binding  mitochondrial tRNA 3'-trailer cleavage, endonucleolytic  mitochondrial tRNA 3'-trailer cleavage, endonucleolytic  mitochondrial tRNA processing  
REACTOMEQ9BQ52 [protein]
REACTOME PathwaysR-HSA-8868766 [pathway]   
NDEx NetworkELAC2
Atlas of Cancer Signalling NetworkELAC2
Wikipedia pathwaysELAC2
Orthology - Evolution
GeneTree (enSembl)ENSG00000006744
Phylogenetic Trees/Animal Genes : TreeFamELAC2
Homologs : HomoloGeneELAC2
Homology/Alignments : Family Browser (UCSC)ELAC2
Gene fusions - Rearrangements
Fusion : FusionGDB3.1.26.11   
Fusion : FusionHubC1QL4--ELAC2    DLST--ELAC2    EEF1A2--ELAC2    ELAC2--COX10    ELAC2--P4HA1    ELAC2--RAB4B    ELAC2--RABEP1    ELAC2--RYR3    ELAC2--SCPEP1    GLB1L2--ELAC2   
Fusion : QuiverELAC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELAC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELAC2
Exome Variant ServerELAC2
GNOMAD BrowserENSG00000006744
Varsome BrowserELAC2
ACMGELAC2 variants
Genomic Variants (DGV)ELAC2 [DGVbeta]
DECIPHERELAC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELAC2 
ICGC Data PortalELAC2 
TCGA Data PortalELAC2 
Broad Tumor PortalELAC2
OASIS PortalELAC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELAC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DELAC2
Mutations and Diseases : HGMDELAC2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)ELAC2
DoCM (Curated mutations)ELAC2
CIViC (Clinical Interpretations of Variants in Cancer)ELAC2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM605367    614731    615440   
Orphanet903    22447   
Genetic Testing Registry ELAC2
NextProtQ9BQ52 [Medical]
Target ValidationELAC2
Huge Navigator ELAC2 [HugePedia]
Clinical trials, drugs, therapy
Protein Interactions : CTDELAC2
Pharm GKB GenePA27739
Clinical trialELAC2
DataMed IndexELAC2
PubMed95 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 14:06:24 CET 2022

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