In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-ter... See more...

Aliases for LONP2 Gene

Aliases for LONP2 Gene

  • Lon Peptidase 2, Peroxisomal 2 3 5
  • Lon Protease Homolog 2, Peroxisomal 3 4
  • Lon Protease-Like Protein 2 3 4
  • Lon Protease 2 3 4
  • EC 3.4.21.53 4 52
  • LONP 3 4
  • Peroxisomal Lon Protease Homolog 2 3
  • Peroxisomal LON Protease Like 3
  • Peroxisomal Lon Protease 4
  • EC 3.4.21 52
  • LONPL 3
  • PSLON 3
  • PLON 3
  • PLon 4

External Ids for LONP2 Gene

Previous GeneCards Identifiers for LONP2 Gene

  • GC16P046837
  • GC16P048278
  • GC16P034168

Summaries for LONP2 Gene

Entrez Gene Summary for LONP2 Gene

  • In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]

GeneCards Summary for LONP2 Gene

LONP2 (Lon Peptidase 2, Peroxisomal) is a Protein Coding gene. Diseases associated with LONP2 include Zellweger Syndrome. Among its related pathways are Chaperonin-mediated protein folding and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ATPase activity. An important paralog of this gene is LONP1.

UniProtKB/Swiss-Prot Summary for LONP2 Gene

  • ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1.

Additional gene information for LONP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LONP2 Gene

Genomics for LONP2 Gene

GeneHancer (GH) Regulatory Elements for LONP2 Gene

Promoters and enhancers for LONP2 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
GH16J048243 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 519.3 +0.8 844 3.2 EP300 ZBTB40 NRF1 TCF12 POLR2G SP1 NCOR1 PHF8 ZFX ZNF639 LONP2 ABCC11 SIAH1 N4BP1 UBA52P8
GH16J048364 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.2 +122.0 122049 3.7 ZBTB40 ZSCAN5C NRF1 POLR2G NCOR1 RBAK PHF8 PHB2 ZNF639 EP300 SIAH1 LONP2 N4BP1 lnc-SIAH1-2 lnc-LONP2-14
GH16J048354 Enhancer 0.9 Ensembl ENCODE dbSUPER 44 +112.5 112510 3.4 NFYB POLR2A ZNF316 MAFF MAFK RBM22 MAFG SSRP1 AGO2 EMSY lnc-PHKB-5 LONP2 SIAH1 lnc-SIAH1-1 lnc-SIAH1-2
GH16J048203 Enhancer 1.1 Ensembl ENCODE 23.7 -39.4 -39377 2 EP300 FOXK2 TCF12 POLR2G NCOR1 KDM6A TCF7 TGIF2 SMARCC2 SKI LONP2 ABCC11 HSALNG0111229 ENSG00000261538
GH16J048299 Enhancer 0.8 ENCODE 31.7 +55.9 55864 2.1 AFF1 EP300 MYC HINFP NFRKB GABPA TRIM24 CEBPG MAX ATF3 LONP2 ABCC11 UBA52P8 lnc-SIAH1-3 piR-44133-009
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LONP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LONP2

Top Transcription factor binding sites by QIAGEN in the LONP2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • FOXJ2 (long isoform)

Genomic Locations for LONP2 Gene

Genomic Locations for LONP2 Gene
chr16:48,244,167-48,363,122
(GRCh38/hg38)
Size:
118,956 bases
Orientation:
Plus strand
chr16:48,278,207-48,397,033
(GRCh37/hg19)
Size:
118,827 bases
Orientation:
Plus strand

Genomic View for LONP2 Gene

Genes around LONP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LONP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LONP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LONP2 Gene

Proteins for LONP2 Gene

  • Protein details for LONP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WA8-LONP2_HUMAN
    Recommended name:
    Lon protease homolog 2, peroxisomal
    Protein Accession:
    Q86WA8
    Secondary Accessions:
    • B7ZKL7
    • Q0D2H6
    • Q8N3B9
    • Q8NCE9
    • Q96K43

    Protein attributes for LONP2 Gene

    Size:
    852 amino acids
    Molecular mass:
    94617 Da
    Quaternary structure:
    • Interacts with PEX5 (By similarity) (PubMed:22002062). Interacts with TYSND1 (By similarity) (PubMed:22002062). May interact with enzymes involved in beta-oxidation of fatty acids, including ACOX1/AOX (PubMed:18281296).
    SequenceCaution:
    • Sequence=BAB55278.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for LONP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LONP2 Gene

Selected DME Specific Peptides for LONP2 Gene

Q86WA8:
  • TLRGLVLPVGG
  • LHRIGTAALAVQVVGSNWPKPHYTLL
  • PGVAIGLAWTP
  • LSEQFYKYAVQLV
  • VLFIATANTTATIP
  • QLEQHGLTPQQ
  • MTGEITL
  • HFPAGAV
  • EIAHRHLI
  • IRGHRRTY
  • LGDVMKES
  • KQDDDKRVIAIRP
  • ALLEVLDP
  • RLKKMPQSMPEYALTRNYLE
  • RRLLDSL
  • IITRYTREAGVRSLDRK
  • ALKDILGPP
  • LPVGGIK
  • RNEKDLE
  • LAVQVVGSNWPKPHYTLLITGLCRF
  • VAKTLGREFHRIALGGVCDQSDIRGHRRTYVGSMPGRII
  • LTSIIRT
  • CRAVAVKVAEGQ
  • KDGPSAG
  • IQIPSRLPLL
  • ICRAVAV
  • KDKVLAAHR
  • GPPGVGKTS
  • LDEVLNAAFDGGF
  • RQIEGLKLLQKTR
  • ARNLQLVRSRLLKGTSLQSTILGVIPNTPDPASD
  • VRQLKNNLKGPILCFVGPPGVGKTSVGR
  • YTREAGVR
  • REELGELSEQFY
  • ALPPEMPILID
  • PGYTQEEK
  • IRTSNKEKLQ
  • HLHFPAG
  • VLPVGGI
  • NPVFLLDE
  • SVPAVAKL

Post-translational modifications for LONP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for LONP2 Gene

Gene Families for LONP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for LONP2 Gene

GenScript: Design optimal peptide antigens:
  • Lon protease homolog (B7ZKL7_HUMAN)
  • Peroxisomal Lon protease (LONP2_HUMAN)
  • LONP2 protein (Q9BU35_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86WA8

UniProtKB/Swiss-Prot:

LONP2_HUMAN :
  • Belongs to the peptidase S16 family.
Family:
  • Belongs to the peptidase S16 family.
genes like me logo Genes that share domains with LONP2: view

Function for LONP2 Gene

Molecular function for LONP2 Gene

UniProtKB/Swiss-Prot Function:
ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of proteins in presence of ATP.; EC=3.4.21.53; Evidence=. ;.

Enzyme Numbers (IUBMB) for LONP2 Gene

Phenotypes From GWAS Catalog for LONP2 Gene

Gene Ontology (GO) - Molecular Function for LONP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 22002062
GO:0004176 ATP-dependent peptidase activity IEA --
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 18281296
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with LONP2: view
genes like me logo Genes that share phenotypes with LONP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for LONP2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LONP2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LONP2 Gene

Localization for LONP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LONP2 Gene

Peroxisome 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 LONP2 gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LONP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IDA,IEA 14561759
GO:0005782 peroxisomal matrix TAS,IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with LONP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LONP2 Gene

Pathways & Interactions for LONP2 Gene

genes like me logo Genes that share pathways with LONP2: view

Gene Ontology (GO) - Biological Process for LONP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins IEA --
GO:0006625 protein targeting to peroxisome TAS,IBA --
GO:0007031 peroxisome organization NAS 14561759
GO:0014070 response to organic cyclic compound IEA --
genes like me logo Genes that share ontologies with LONP2: view

No data available for SIGNOR curated interactions for LONP2 Gene

Drugs & Compounds for LONP2 Gene

No Compound Related Data Available

Transcripts for LONP2 Gene

mRNA/cDNA for LONP2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LONP2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LONP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -
SP3:

Relevant External Links for LONP2 Gene

GeneLoc Exon Structure for
LONP2

Expression for LONP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LONP2 Gene

Protein differential expression in normal tissues from HIPED for LONP2 Gene

This gene is overexpressed in Liver (17.6), Platelet (16.2), and Bone marrow stromal cell (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LONP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LONP2

SOURCE GeneReport for Unigene cluster for LONP2 Gene:

Hs.731827

mRNA Expression by UniProt/SwissProt for LONP2 Gene:

Q86WA8-LONP2_HUMAN
Tissue specificity: Widely expressed, with high levels in the liver, kidney and pancreas.

Evidence on tissue expression from TISSUES for LONP2 Gene

  • Nervous system(4.8)
  • Liver(2.5)
genes like me logo Genes that share expression patterns with LONP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LONP2 Gene

Orthologs for LONP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LONP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LONP2 31 30
  • 99.8 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 95 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia LONP2 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LONP2 31 30
  • 92.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LONP2 31 30
  • 90.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lonp2 17 31 30
  • 88.34 (n)
chicken
(Gallus gallus)
Aves LONP2 31 30
  • 81.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LONP2 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lonp2 30
  • 70.76 (n)
zebrafish
(Danio rerio)
Actinopterygii LONP2 (2 of 2) 31
  • 91 (a)
OneToMany
lonp2 31 30
  • 70.98 (n)
OneToMany
wufc51e03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5622 30
worm
(Caenorhabditis elegans)
Secernentea Y75B8A.4 31
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PIM1 31
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons LON2 30
  • 52.6 (n)
rice
(Oryza sativa)
Liliopsida Os09g0533400 30
  • 52.62 (n)
Os.10132 30
barley
(Hordeum vulgare)
Liliopsida Hv.12788 30
corn
(Zea mays)
Liliopsida Zm.396 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
Species where no ortholog for LONP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 LONP2 Gene

ENSEMBL:
Gene Tree for LONP2 (if available)
TreeFam:
Gene Tree for LONP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LONP2: view image

Paralogs for LONP2 Gene

Paralogs for LONP2 Gene

(2) SIMAP similar genes for LONP2 Gene using alignment to 7 proteins:

  • LONP2_HUMAN
  • B7ZKL7_HUMAN
  • E7EN44_HUMAN
  • H3BPF7_HUMAN
  • H3BQ67_HUMAN
  • H3BUW8_HUMAN
  • Q9BU35_HUMAN

Pseudogenes.org Pseudogenes for LONP2 Gene

genes like me logo Genes that share paralogs with LONP2: view

Variants for LONP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LONP2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
737239 Benign: not provided 48,361,865(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
743019 Benign: not provided 48,361,775(+) A/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
773056 Benign: not provided 48,361,616(+) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
779016 Benign: not provided 48,362,279(+) C/T SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs193920895 Uncertain Significance: Malignant tumor of prostate 48,256,612(+) G/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for LONP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LONP2 Gene

Variant ID Type Subtype PubMed ID
esv1677967 CNV insertion 17803354
esv2595682 CNV insertion 19546169
esv2758645 CNV gain 17122850
esv3331628 CNV duplication 20981092
esv3372224 CNV duplication 20981092
nsv1138451 CNV deletion 24896259
nsv833219 CNV gain 17160897

Variation tolerance for LONP2 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LONP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LONP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LONP2 Gene

Disorders for LONP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LONP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search LONP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LONP2

genes like me logo Genes that share disorders with LONP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LONP2 Gene

Publications for LONP2 Gene

  1. Proteomic analysis of rat liver peroxisome: presence of peroxisome-specific isozyme of Lon protease. (PMID: 14561759) Kikuchi M … Taniguchi H (The Journal of biological chemistry 2004) 2 3 4 54
  2. Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid β-oxidation in peroxisomal matrix. (PMID: 22002062) Okumoto K … Fujiki Y (The Journal of biological chemistry 2011) 3 4 54
  3. Contribution of peroxisome-specific isoform of Lon protease in sorting PTS1 proteins to peroxisomes. (PMID: 18281296) Omi S … Taniguchi H (Journal of biochemistry 2008) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54

Products for LONP2 Gene

Sources for LONP2 Gene