Aliases for LACTB2 Gene

Aliases for LACTB2 Gene

  • Lactamase Beta 2 2 3 5
  • Beta-Lactamase-Like Protein 2 3 4
  • Endoribonuclease LACTB2 3 4
  • CGI-83 2 3
  • Testicular Secretory Protein Li 23 3
  • EC 3.1.27.- 4
  • LACTB2 5

External Ids for LACTB2 Gene

Previous GeneCards Identifiers for LACTB2 Gene

  • GC08M071599
  • GC08M071712
  • GC08M071549
  • GC08M067042

Summaries for LACTB2 Gene

GeneCards Summary for LACTB2 Gene

LACTB2 (Lactamase Beta 2) is a Protein Coding gene. Diseases associated with LACTB2 include Alcoholic Cardiomyopathy and Branchiootorenal Syndrome. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

UniProtKB/Swiss-Prot Summary for LACTB2 Gene

  • Endoribonuclease; cleaves preferentially 3' to purine-pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3' -OH group. Has no activity with double-stranded RNA or DNA. Required for normal mitochondrial function and cell viability.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LACTB2 Gene

Genomics for LACTB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LACTB2 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
GH08J070665 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 257.8 +1.3 1267 5.4 TBP MXD4 MNT SMAD5 ZFP64 MBD2 POLR2A CTCF BHLHE40 ELF1 XKR9 LACTB2 ENSG00000285579 NCOA2 LACTB2-AS1 TRAM1 HSALNG0066073 RF00017-7124 RN7SL19P lnc-TRAM1-3
GH08J070605 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 16.6 +60.8 60825 6.3 SP1 MXD4 SMAD5 IRF2 POLR2A CTCF BHLHE40 ZBTB7B ELF1 ZIC2 XKR9 TRAM1 LACTB2-AS1 MK280589 LACTB2 NCOA2
GH08J070147 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 +520.6 520592 2 FEZF1 CEBPA MNT IKZF1 ZNF217 CTCF CEBPB ARNT SIN3A ZNF395 LACTB2 XKR9 LACTB2-AS1 TRAM1 lnc-PRDM14-3 HSALNG0066043 piR-57460-648 PRDM14 NCOA2
GH08J070556 Enhancer 0.8 Ensembl ENCODE 16.6 +111.0 110950 3.3 CUX1 FOXA2 CTBP1 JUND NFE2 TCF7L2 MAFK SMARCE1 FOXA1 PKNOX1 XKR9 LACTB2 HSALNG0066066 MN309174-629 TRAM1 NCOA2
GH08J070533 Enhancer 0.9 Ensembl ENCODE 11.3 +135.2 135176 1.9 DEK ZNF217 CTCF ZIC2 REST ZNF511 IRF4 TRIM22 SMC3 RAD21 LOC105375890 LACTB2 XKR9 ENSG00000287230 HSALNG0066065 TRAM1 NCOA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LACTB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LACTB2

Top Transcription factor binding sites by QIAGEN in the LACTB2 gene promoter:
  • aMEF-2
  • AREB6
  • FAC1
  • MEF-2A
  • POU2F1
  • POU2F1a
  • SRF
  • SRF (504 AA)

Genomic Locations for LACTB2 Gene

Latest Assembly
chr8:70,635,318-70,669,185
(GRCh38/hg38)
Size:
33,868 bases
Orientation:
Minus strand

Previous Assembly
chr8:71,549,501-71,581,420
(GRCh37/hg19 by Entrez Gene)
Size:
31,920 bases
Orientation:
Minus strand

chr8:71,547,553-71,581,409
(GRCh37/hg19 by Ensembl)
Size:
33,857 bases
Orientation:
Minus strand

Genomic View for LACTB2 Gene

Genes around LACTB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LACTB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LACTB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LACTB2 Gene

Proteins for LACTB2 Gene

  • Protein details for LACTB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53H82-LACB2_HUMAN
    Recommended name:
    Endoribonuclease LACTB2
    Protein Accession:
    Q53H82
    Secondary Accessions:
    • A8K2D6
    • Q9Y392

    Protein attributes for LACTB2 Gene

    Size:
    288 amino acids
    Molecular mass:
    32806 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • RNAi-mediated down-regulation results in rapid cell death. The reason for this is not clear; there are only minor changes in mitochondrial mRNA levels.

    Three dimensional structures from OCA and Proteopedia for LACTB2 Gene

neXtProt entry for LACTB2 Gene

Post-translational modifications for LACTB2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LACTB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LACTB2 Gene

Domains & Families for LACTB2 Gene

Gene Families for LACTB2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LACTB2 Gene

Suggested Antigen Peptide Sequences for LACTB2 Gene

GenScript: Design optimal peptide antigens:
  • Beta-lactamase-like protein 2 (LACB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53H82

UniProtKB/Swiss-Prot:

LACB2_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with LACTB2: view

Function for LACTB2 Gene

Molecular function for LACTB2 Gene

UniProtKB/Swiss-Prot Function:
Endoribonuclease; cleaves preferentially 3' to purine-pyrimidine dinucleotide motifs in single-stranded RNA. The cleavage product contains a free 3' -OH group. Has no activity with double-stranded RNA or DNA. Required for normal mitochondrial function and cell viability.

Enzyme Numbers (IUBMB) for LACTB2 Gene

Phenotypes From GWAS Catalog for LACTB2 Gene

Gene Ontology (GO) - Molecular Function for LACTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003727 single-stranded RNA binding IDA 26826708
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004521 endoribonuclease activity IBA,IDA 26826708
genes like me logo Genes that share ontologies with LACTB2: view
genes like me logo Genes that share phenotypes with LACTB2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LACTB2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LACTB2 Gene

Localization for LACTB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LACTB2 Gene

Mitochondrion matrix.

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 LACTB2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LACTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IBA,IDA 26826708
genes like me logo Genes that share ontologies with LACTB2: view

Pathways & Interactions for LACTB2 Gene

PathCards logo

SuperPathways for LACTB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LACTB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IDA 26826708
genes like me logo Genes that share ontologies with LACTB2: view

No data available for Pathways by source and SIGNOR curated interactions for LACTB2 Gene

Drugs & Compounds for LACTB2 Gene

(2) Drugs for LACTB2 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nafcillin Sodium Pharma 0
Sulbactam sodium Pharma 0

(2) ApexBio Compounds for LACTB2 Gene

Compound Action Cas Number
Nafcillin Sodium 7177-50-6
Sulbactam sodium 69388-84-7
genes like me logo Genes that share compounds with LACTB2: view

Drug products for research

Transcripts for LACTB2 Gene

mRNA/cDNA for LACTB2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 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 LACTB2

Alternative Splicing Database (ASD) splice patterns (SP) for LACTB2 Gene

No ASD Table

Relevant External Links for LACTB2 Gene

GeneLoc Exon Structure for
LACTB2

Expression for LACTB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LACTB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LACTB2 Gene

This gene is overexpressed in Liver (x4.9).

Protein differential expression in normal tissues from HIPED for LACTB2 Gene

This gene is overexpressed in Kidney (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LACTB2 Gene



Protein tissue co-expression partners for LACTB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LACTB2

SOURCE GeneReport for Unigene cluster for LACTB2 Gene:

Hs.118554

Evidence on tissue expression from TISSUES for LACTB2 Gene

  • Liver(4.4)
  • Nervous system(4.2)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with LACTB2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LACTB2 Gene

Orthologs for LACTB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LACTB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LACTB2 30 31
  • 90.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LACTB2 30 31
  • 89.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LACTB2 30 31
  • 89.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lactb2 30
  • 84.37 (n)
Mouse
(Mus musculus)
Mammalia Lactb2 30 17 31
  • 84.26 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LACTB2 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LACTB2 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LACTB2 30 31
  • 74.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LACTB2 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lactb2 30
  • 69.93 (n)
Str.10744 30
Zebrafish
(Danio rerio)
Actinopterygii lactb2 30 31
  • 62.85 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4741 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004236 30
  • 53.86 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12375 30 31
  • 52.59 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.39 30
  • 55.6 (n)
Y53F4B.39 31
  • 40 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02376 30
  • 50.42 (n)
Species where no ortholog for LACTB2 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LACTB2 Gene

ENSEMBL:
Gene Tree for LACTB2 (if available)
TreeFam:
Gene Tree for LACTB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LACTB2: view image

Paralogs for LACTB2 Gene

No data available for Paralogs for LACTB2 Gene

Variants for LACTB2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LACTB2 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 LACTB2 Gene

Variant ID Type Subtype PubMed ID
esv3308414 CNV mobile element insertion 20981092
esv3444036 CNV insertion 20981092
esv3576585 CNV gain 25503493
nsv1068714 OTHER inversion 25765185

Variation tolerance for LACTB2 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LACTB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LACTB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LACTB2 Gene

Disorders for LACTB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LACTB2 Gene - From: COP

Disorder Aliases PubMed IDs
alcoholic cardiomyopathy
  • alcohol-induced heart muscle disease
branchiootorenal syndrome
  • branchio-oto-renal syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LACTB2

Genetic Association Database
(GAD)
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 LACTB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LACTB2 Gene

Publications for LACTB2 Gene

  1. Identification of LACTB2, a metallo-β-lactamase protein, as a human mitochondrial endoribonuclease. (PMID: 26826708) Levy S … Schuster G (Nucleic acids research 2016) 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4
  4. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for LACTB2 Gene

Sources for LACTB2 Gene