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FLASH GENE
Symbol ELAC2 contributors: mct/npt - updated : 02-10-2013
HGNC name elaC homolog 2 (E. coli)
HGNC id 14198
Corresponding disease
CMTND8 mitochondrial complex I deficiency 8
Location 17p12      Physical location : 12.894.929 - 12.921.381
Synonym name
  • putative prostate cancer susceptibility protein (minor gene)
  • tRNA Z (long form)
  • heredity prostate cancer protein 2
  • ribonuclease Z 2
  • Synonym symbol(s) HPC2, ELC2, FLJ10530, FLJ42848, FLJ36693
    EC.number 3.1.26.11
    DNA
    TYPE functioning gene
    STRUCTURE 26.45 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MYH4 17p13.1 myosin, heavy polypeptide 4, skeletal muscle MYH1 17p13.1 myosin, heavy polypeptide 1, skeletal muscle, adult MYH2 17p13.1 myosin, heavy polypeptide 2, skeletal muscle, adult MYH3 17p13.1 myosin, heavy polypeptide 3, skeletal muscle, embryonic SCO1 17p13-p12 SCO cytochrome oxidase deficient homolog 1 (yeast) MDS006 17p13.1 x 006 protein LOC388335 17 similar to RIKEN cDNA A730055C05 gene LOC388336 17 similar to hypothetical protein D430041B17 LOC284033 17p13.1 hypothetical protein LOC284033 DNAH9 17p12 dynein, axonemal, heavy polypeptide 9 ZNF18 17p13-p12 zinc finger protein 18 (KOX 11) LOC390763 17 similar to 60S ribosomal protein L21 MAP2K4 17p11.2 mitogen-activated protein kinase kinase 4 FLJ34690 17p12 hypothetical protein FLJ34690 LOC390764 17 similar to hypothetical protein MYCD 17p13.3 similar to hypothetical protein KIAA0672 17p11.2 similar to hypothetical protein ELAC2 17p11.2 elaC homolog 2 (E. coli) HS3ST3A1 17p12-p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 LOC388337 17 similar to CDRT15 protein COX10 17p12-p11.2 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) LOC146822 17p12 similar to CDRT15 protein LOC388338 17 LOC388338 HS3ST3B1 17p12-p11.2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 LOC388339 17 similar to ribosomal protein LOC390765 17 similar to 60S ribosomal protein L23a LOC388340 17 LOC388340 PMP22 17p12-p11.2 peripheral myelin protein 22 TEKT3 17p12 tektin 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 3026 - 826 - 2008 18375959
    23 - 3694 - 786 - 2008 18375959
    24 - 3811 - 825 - 2008 18375959
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     stomach    
    Endocrinethyroid    
    Nervousbrain   highly
    Reproductivemale systemprostate  highly
    Respiratorylung   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • ATP/GTP binding site motif A
  • a histidine motif in the middle portion domain constituting a metal dependent hydrolase
  • HOMOLOGY
    interspecies homolog to E.coli Elac2
    intraspecies homolog to SNM1,CPSF73
    Homologene
    FAMILY
  • metallobetalactamase superfamily
  • RNase Z family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • endonucleolytic cleavage of RNA, removing extra 3' nucleotides from tRNA precursor, generating 3'
  • termini of tRNAs
  • RNase Z(L) that is the enzyme involved in both, nuclear and mitochondrial tRNA 3 prime end maturation
  • functions as a tRNase Z in human mitochondria, suggesting that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P
  • having an important transcriptional scaffold function in TGF-beta/Smad signaling mediated growth arrest
  • encodes a long form of RNase Z
  • role of ELAC2 in mt-tRNA processing
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • bind two zinc ions per molecule as cofactor.
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMTND8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    by somatic mutations in rare prostatic cancer
    Susceptibility to prostate cancer (in caucasian) (minor role)
    Variant & Polymorphism SNP , insertion/deletion
  • common SNPs and haplotypes associated with risk of aggressive prostate cancer
  • major risk haplotype C-G-G-C-G of five SNPs within ELAC2 in Prostate cancer of African Americans (Beuten 2010)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS