• Gene id: 60528

Gene Summary

• Gene Symbol: ELAC2   Gene   UCSC   Ensembl
• Aliases: COXPD17, ELC2, HPC2
• Gene name: elaC ribonuclease Z 2
• Alternate names: zinc phosphodiesterase ELAC protein 2, RNase Z 2, elaC homolog 2, elaC homolog protein 2, elaC-like protein 2, heredity prostate cancer protein 2, putative prostate cancer susceptibility protein HPC2/ELAC2, ribonuclease Z 2, tRNA 3 endonuclease 2, tRNase Z (long f,
• Gene location: 17p12 (13018063: 12991611)     Exons: 25     NC_000017.11
• Gene summary(Entrez): 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) an
• OMIM: 605367

Protein Summary

• Protein general information: Q9BQ52  
  • Name: Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (ElaC homolog protein 2) (Heredity prostate cancer protein 2) (Ribonuclease Z 2) (RNase Z 2) (tRNA 3 endonuclease 2) (tRNase Z 2)
  • Length: 826  
  • Mass: 92219
  • 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. {ECO
• Sequence:

  MWALCSLLRSAAGRTMSQGRTISQAPARRERPRKDPLRHLRTREKRGPSGCSGGPNTVYLQVVAAGSRDSGAALY
  VFSEFNRYLFNCGEGVQRLMQEHKLKVARLDNIFLTRMHWSNVGGLSGMILTLKETGLPKCVLSGPPQLEKYLEA
  IKIFSGPLKGIELAVRPHSAPEYEDETMTVYQIPIHSEQRRGKHQPWQSPERPLSRLSPERSSDSESNENEPHLP
  HGVSQRRGVRDSSLVVAFICKLHLKRGNFLVLKAKEMGLPVGTAAIAPIIAAVKDGKSITHEGREILAEELCTPP
  DPGAAFVVVECPDESFIQPICENATFQRYQGKADAPVALVVHMAPASVLVDSRYQQWMERFGPDTQHLVLNENCA
  SVHNLRSHKIQTQLNLIHPDIFPLLTSFRCKKEGPTLSVPMVQGECLLKYQLRPRREWQRDAIITCNPEEFIVEA
  LQLPNFQQSVQEYRRSAQDGPAPAEKRSQYPEIIFLGTGSAIPMKIRNVSATLVNISPDTSLLLDCGEGTFGQLC
  RHYGDQVDRVLGTLAAVFVSHLHADHHTGLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQCQEVLH
  HISMIPAKCLQEGAEISSPAVERLISSLLRTCDLEEFQTCLVRHCKHAFGCALVHTSGWKVVYSGDTMPCEALVR
  MGKDATLLIHEATLEDGLEEEAVEKTHSTTSQAISVGMRMNAEFIMLNHFSQRYAKVPLFSPNFSEKVGVAFDHM
  KVCFGDFPTMPKLIPPLKALFAGDIEEMEERREKRELRQVRAALLSRELAGGLEDGEPQQKRAHTEEPQAKKVRA
  Q

• Structural information:
  • Interpro: IPR001279  IPR036866  IPR027794  
  • STRING: ENSP00000337445
• Other Databases: GeneCards:  ELAC2  Malacards:  ELAC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042781	3'-tRNA processing endoribonuclease activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0072684	mitochondrial tRNA 3'-trailer cleavage, endonucleolytic	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0072684	mitochondrial tRNA 3'-trailer cleavage, endonucleolytic	IMP	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004549	tRNA-specific ribonuclease activity	EXP	molecular function
GO:0004549	tRNA-specific ribonuclease activity	EXP	molecular function
GO:0004549	tRNA-specific ribonuclease activity	EXP	molecular function
GO:0004549	tRNA-specific ribonuclease activity	EXP	molecular function
GO:0004549	tRNA-specific ribonuclease activity	EXP	molecular function
GO:0004549	tRNA-specific ribonuclease activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0042780	tRNA 3'-end processing	TAS	biological process
GO:0090646	mitochondrial tRNA processing	TAS	biological process
GO:0090646	mitochondrial tRNA processing	TAS	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R