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-... See more...

Aliases for ELAC2 Gene

Aliases for ELAC2 Gene

  • ElaC Ribonuclease Z 2 2 3 5
  • HPC2 2 3 4
  • Zinc Phosphodiesterase ELAC Protein 2 3 4
  • 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 50
  • TRNase Z 2 3 4
  • RNase Z 2 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
  • FLJ10530 2
  • COXPD17 3
  • ELAC2 5
  • 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 tRNA processing and rRNA processing in the mitochondrion. Gene Ontology (GO) annotations related to this gene include 3'-tRNA processing endoribonuclease activity. An important paralog of this gene is ELAC1.

UniProtKB/Swiss-Prot Summary 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 (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly (PubMed:24703694).

Gene Wiki entry for ELAC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELAC2 Gene

Genomics for ELAC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ELAC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J013016 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 281.7 +0.2 223 2.8 SP1 ZNF207 ZNF600 NCOR1 MYC IKZF1 POLR2A NFIC ZIC2 YY1 ELAC2 HSALNG0114641 lnc-HS3ST3A1-8 ARHGAP44
GH17J012983 Promoter/Enhancer 1 Ensembl ENCODE 20.5 +33.0 33014 2.6 ATF3 NFIC YY1 FOXA2 RXRA ZBTB33 JUND HNF4A FOXA1 RAD21 NONHSAG020860.2 ELAC2 ENSG00000277621 ARHGAP44
GH17J013002 Enhancer 0.8 Ensembl ENCODE 22.9 +15.0 14962 0.7 ZNF654 IKZF1 CTCF TRIM22 HOMEZ RAD21 SMC3 GATAD1 ZNF143 ZNF660 lnc-HS3ST3A1-8 ELAC2 ARHGAP44 piR-47122
GH17J012976 Enhancer 0.5 Ensembl ENCODE 17 +40.8 40760 1 POLR2A SP1 ELAC2 ENSG00000280168 lnc-ELAC2-2 ENSG00000277621 ARHGAP44
GH17J013025 Enhancer 0.8 FANTOM5 Ensembl 10.1 -7.5 -7480 0.5 NONO HES1 ESRRA PHF20 ZNF366 ZSCAN4 SUZ12 ZSCAN21 CDC5L ZNF680 HSALNG0114643 ELAC2 MYOCD piR-35674-208 HS3ST3A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELAC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELAC2

Top Transcription factor binding sites by QIAGEN in the ELAC2 gene promoter:
  • AREB6
  • Bach2
  • CUTL1
  • En-1
  • Evi-1
  • Lmo2
  • Nkx6-1
  • S8
  • Sp1

Genomic Locations for ELAC2 Gene

Latest Assembly
chr17:12,991,612-13,018,065
(GRCh38/hg38)
Size:
26,454 bases
Orientation:
Minus strand

Previous Assembly
chr17:12,894,929-12,921,344
(GRCh37/hg19 by Entrez Gene)
Size:
26,416 bases
Orientation:
Minus strand

chr17:12,895,708-12,921,504
(GRCh37/hg19 by Ensembl)
Size:
25,797 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

Selected DME Specific Peptides for ELAC2 Gene

Q9BQ52:
  • VGMRMNAEFIMLNHFSQRYAK
  • GMILTLKETGLPKCVLSGPPQLEKYLEAIKIFSGPLKGI
  • RYLFNCGEG
  • GLPVGTAAIAPIIAAVKDGKSITHEGREILAEELCTPPDP
  • SHLHADHH
  • VVYSGDT
  • EALQLPNFQ
  • GGPNTVYLQVVAAG
  • RLSPERSSDSESNE
  • KDPLRHLRTREKRGP
  • VQGECLLKYQLRPRREWQRDAIITCNPEEFI
  • AALYVFSE
  • RHYGDQVDRVLG
  • PKLIPPLKALFAGDIEEM
  • KKEGPTLSVP
  • TCLVRHC
  • FLGTGSAIPMKIRNVS
  • LLDCGEGT
  • GRTMSQGRTISQ
  • LIHPDIFP
  • ADAPVALVVH
  • EPQQKRAHT
  • SVHNLRSHKIQTQL
  • VFVSHLH
  • FIQPICEN
  • ERREKRELR
  • LHHISMIPAKCLQ
  • AWLQQYHN
  • DETMTVYQIPIHSEQR
  • GVSQRRGVRD
  • SLVVAFICKLHLKRG
  • TFQRYQG
  • LLIHEAT
  • DSRYQQWMERFGPDTQHL
  • AEELCTPPDPG

Post-translational modifications for ELAC2 Gene

  • Ubiquitination at Lys152, Lys476, Lys495, Lys571, Lys332, Lys731, and Lys811
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for ELAC2

Domains & Families for ELAC2 Gene

Gene Families for ELAC2 Gene

HGNC:
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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59369, highly similar to Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (B4DPL9_HUMAN)
  • tRNase Z 2 (RNZ2_HUMAN)

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

Function for ELAC2 Gene

Molecular function for ELAC2 Gene

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 (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly (PubMed:24703694).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.1.26.11; Evidence={ECO:0000269|PubMed:12711671};.

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:
  • Elac2 Elac2<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAC2

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. Mitochondrion matrix, mitochondrion nucleoid. Nucleus. Note=Mainly mitochondrial.

Subcellular locations from

COMPARTMENTS
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
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 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 IDA,TAS --
GO:0005739 mitochondrion IBA,IDA 21593607
GO:0005759 mitochondrial matrix TAS --
GO:0042645 mitochondrial nucleoid IEA,IDA 24703694
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 IBA,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

mRNA/cDNA for ELAC2 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAC2

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

Expression for ELAC2 Gene

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



Protein tissue co-expression partners for ELAC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELAC2

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.

Evidence on tissue expression from TISSUES for ELAC2 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.4)
  • Kidney(3)
  • Skin(2.8)
  • Heart(2.1)
  • Muscle(2.1)
  • Blood(2)

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

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

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 29 30
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELAC2 29 30
  • 84.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elac2 29
  • 82.62 (n)
Mouse
(Mus musculus)
Mammalia Elac2 29 16 30
  • 82.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ELAC2 29 30
  • 81.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ELAC2 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ELAC2 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELAC2 29 30
  • 65.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELAC2 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elac2 29
  • 64.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii elac2 29 30
  • 62.8 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009743 29
  • 47.73 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta JhI-1 29 30 31
  • 47.19 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea hoe-1 29 30
  • 42.79 (n)
OneToOne
E04A4.4 31
  • 26 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TRZ1 30 32
  • 24 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TRZ3 29
  • 46.51 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0232300 29
  • 47.67 (n)
Os.27302 29
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes trz1 29
  • 42.73 (n)
Species where no ortholog for ELAC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ELAC2: view image
Alliance of Genome Resources:
Additional Orthologs for ELAC2

Paralogs for ELAC2 Gene

Paralogs for ELAC2 Gene

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

Variants for ELAC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELAC2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1001001 Uncertain Significance: Combined oxidative phosphorylation deficiency 17 13,017,724(-) T/C
NM_018127.7(ELAC2):c.224A>G (p.Tyr75Cys)
MISSENSE
1004924 Uncertain Significance: Combined oxidative phosphorylation deficiency 17 13,005,064(-) C/G
NM_018127.7(ELAC2):c.908G>C (p.Gly303Ala)
MISSENSE
1005221 Uncertain Significance: Combined oxidative phosphorylation deficiency 17 13,002,561(-) C/G
NM_018127.7(ELAC2):c.1098G>C (p.Gln366His)
MISSENSE
1007944 Uncertain Significance: Combined oxidative phosphorylation deficiency 17 12,994,467(-) A/C
NM_018127.7(ELAC2):c.2066T>G (p.Leu689Arg)
MISSENSE
1013384 Likely Benign: not provided 13,013,229(-) T/G
NM_018127.7(ELAC2):c.537A>C (p.Thr179=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELAC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
ELAC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELAC2
Leiden Open Variation Database (LOVD)
ELAC2

SNP Genotyping and Copy Number Assays for research

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

Disorders for ELAC2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ELAC2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:12711671, ECO:0000269 PubMed:12783937, ECO:0000269 PubMed:15489334, ECO:0000269 PubMed:18987736, ECO:0000269 Ref.3}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for ELAC2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  2. 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 40
  3. 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 40
  4. A candidate prostate cancer susceptibility gene at chromosome 17p. (PMID: 11175785) Tavtigian SV … Cannon-Albright LA (Nature genetics 2001) 3 4 22 72
  5. Association of HPC2/ELAC2 genotypes and prostate cancer. (PMID: 10986046) Rebbeck TR … Malkowicz SB (American journal of human genetics 2000) 2 3 4 40

Products for ELAC2 Gene

Sources for ELAC2 Gene