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Aliases for LOXL2 Gene

Aliases for LOXL2 Gene

  • Lysyl Oxidase Like 2 2 3 5
  • Lysyl Oxidase-Related Protein WS9-14 3 4
  • Lysyl Oxidase-Related Protein 2 3 4
  • Lysyl Oxidase-Like Protein 2 3 4
  • Lysyl Oxidase-Like 2 Delta E13 3
  • Lysyl Oxidase-Like 2 Protein 3
  • Lysyl Oxidase Related 2 3
  • Lysyl Oxidase-Like 2 2
  • EC 1.4.3.13 4
  • EC 1.4.3 63
  • WS9-14 3
  • LOR2 3

External Ids for LOXL2 Gene

Previous GeneCards Identifiers for LOXL2 Gene

  • GC08U990046
  • GC08M023508
  • GC08M022974
  • GC08M023176
  • GC08M023210
  • GC08M021700
  • GC08M023154

Summaries for LOXL2 Gene

Entrez Gene Summary for LOXL2 Gene

  • This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

GeneCards Summary for LOXL2 Gene

LOXL2 (Lysyl Oxidase Like 2) is a Protein Coding gene. Diseases associated with LOXL2 include hyperostosis cranialis interna and chronic cholangitis. Among its related pathways are Degradation of the extracellular matrix and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include chromatin binding and electron carrier activity. An important paralog of this gene is LOXL1.

UniProtKB/Swiss-Prot for LOXL2 Gene

  • Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). When secreted in extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding. When nuclear, acts as a transcription corepressor and specifically mediates deamination of trimethylated Lys-4 of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation. Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin, probably by mediating deamination of histone H3. Also involved in E-cadherin repression following hypoxia, a hallmark of epithelial to mesenchymal transition believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression. Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation.

Gene Wiki entry for LOXL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOXL2 Gene

Genomics for LOXL2 Gene

Regulatory Elements for LOXL2 Gene

Genomic Location for LOXL2 Gene

Chromosome:
8
Start:
23,296,897 bp from pter
End:
23,425,328 bp from pter
Size:
128,432 bases
Orientation:
Minus strand

Genomic View for LOXL2 Gene

Genes around LOXL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOXL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOXL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXL2 Gene

Proteins for LOXL2 Gene

  • Protein details for LOXL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4K0-LOXL2_HUMAN
    Recommended name:
    Lysyl oxidase homolog 2
    Protein Accession:
    Q9Y4K0
    Secondary Accessions:
    • B2R5Q0
    • Q53HV3
    • Q9BW70
    • Q9Y5Y8

    Protein attributes for LOXL2 Gene

    Size:
    774 amino acids
    Molecular mass:
    86725 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489;
    Quaternary structure:
    • Component of some chromatin repressor complex. Interacts with SNAI1.
    Miscellaneous:
    • Its overexpression in a number of cancer and its ability to promote epithelial to mesenchymal transition suggest that LOXL2 might play a role in tumor progression: expression is correlated with metastasis and decreased survival in patients with aggressive breast cancer (PubMed:21732535). Allosteric inhibition by AB0023 inhibits formation of the tumor microenvironment and reduces metastatic tumor burden in xenograft models (PubMed:20818376 and PubMed:21732535). However, inhibiting the enzyme activity of LOXL2 may not be sufficient, since mutants that lack enzyme activity or inhibition of the activity by AB0023 antibody does not prevent inhibition of the differentiation of keratinocytes, thereby promoting development of squamous cell carcinomas (PubMed:22157764).
    SequenceCaution:
    • Sequence=AAD34343.1; Type=Erroneous termination; Positions=775; Note=Translated as stop.; Evidence={ECO:0000305};

neXtProt entry for LOXL2 Gene

Proteomics data for LOXL2 Gene at MOPED

Post-translational modifications for LOXL2 Gene

  • N-glycosylated. N-glycosylation on Asn-455 and Asn-644 may be essential for proper folding and secretion; may be composed of a fucosylated carbohydrates attached to a trimannose N-linked glycan core.
  • The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.
  • Glycosylation at Asn 288, Asn 455, and Asn 644
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for LOXL2 (Lysyl Oxidase Homolog 2/LOXL2)

Domains & Families for LOXL2 Gene

Protein Domains for LOXL2 Gene

Suggested Antigen Peptide Sequences for LOXL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4K0

UniProtKB/Swiss-Prot:

LOXL2_HUMAN :
  • The fourth SRCR domain plays a important role in optimizing the catalytic activity of the lysyl-oxidase like (LOX) catalytic domain.
  • Belongs to the lysyl oxidase family.
Domain:
  • The fourth SRCR domain plays a important role in optimizing the catalytic activity of the lysyl-oxidase like (LOX) catalytic domain.
  • Contains 4 SRCR domains.
Family:
  • Belongs to the lysyl oxidase family.
genes like me logo Genes that share domains with LOXL2: view

No data available for Gene Families for LOXL2 Gene

Function for LOXL2 Gene

Molecular function for LOXL2 Gene

GENATLAS Biochemistry:
lysyl oxidase-like 2,extracellular matrix enzyme,widely expressed predominantly in reproductive tissues (placenta,uterus,prostate)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.01 mM for 1,5-diaminopentane {ECO:0000269 PubMed:20439985, ECO:0000269 PubMed:23319596}; KM=1.05 mM for spermine {ECO:0000269 PubMed:20439985, ECO:0000269 PubMed:23319596}; KM=0.59 uM for tropoelastin (without the first three SRCR domains) {ECO:0000269 PubMed:20439985, ECO:0000269 PubMed:23319596}; KM=0.62 uM for tropoelastin (without all four SRCR domains) {ECO:0000269 PubMed:20439985, ECO:0000269 PubMed:23319596}; Note=kcat is 2.04 min(-1) with tropoelastin as substrate (without the first three SRCR domains). kcat is 0.62 min(-1) with tropoelastin as substrate (without all four SRCR domains).;
UniProtKB/Swiss-Prot CatalyticActivity:
Peptidyl-L-lysyl-peptide + O(2) + H(2)O = peptidyl-allysyl-peptide + NH(3) + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
According to some reports, it is inhibited by beta-aminopropionitrile (BAPN) (PubMed:20439985 and PubMed:23319596). According to another report, it is not inhibited by beta-aminopropionitrile (BAPN) (PubMed:20306300). Specifically inhibited by a mouse monoclonal antibody AB0023, inhibition occurs in a non-competitive manner.
UniProtKB/Swiss-Prot Function:
Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine). When secreted in extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding. When nuclear, acts as a transcription corepressor and specifically mediates deamination of trimethylated Lys-4 of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation. Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin, probably by mediating deamination of histone H3. Also involved in E-cadherin repression following hypoxia, a hallmark of epithelial to mesenchymal transition believed to amplify tumor aggressiveness, suggesting that it may play a role in tumor progression. Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation.
UniProtKB/Swiss-Prot Induction:
Strongly induced in hypoxia. Direct transcriptional target of HIF1A.

Enzyme Numbers (IUBMB) for LOXL2 Gene

Gene Ontology (GO) - Molecular Function for LOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 22483618
GO:0005044 scavenger receptor activity IEA --
GO:0005507 copper ion binding IEA --
GO:0005515 protein binding IPI 16096638
genes like me logo Genes that share ontologies with LOXL2: view
genes like me logo Genes that share phenotypes with LOXL2: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LOXL2 Gene

Localization for LOXL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOXL2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Nucleus. Chromosome. Note=Associated with chromatin. It is unclear how LOXL2 is nuclear: it contains a clear signal sequence and is predicted to localize in the extracellular medium. However, different reports confirmed the intracellular location and its key role in transcription regulation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LOXL2 Gene COMPARTMENTS Subcellular localization image for LOXL2 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for LOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LOXL2: view

Pathways & Interactions for LOXL2 Gene

genes like me logo Genes that share pathways with LOXL2: view

Gene Ontology (GO) - Biological Process for LOXL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia ISS --
GO:0001935 endothelial cell proliferation IMP 21835952
GO:0002040 sprouting angiogenesis IMP 21835952
GO:0007155 cell adhesion TAS 9079631
GO:0007568 aging TAS 9079631
genes like me logo Genes that share ontologies with LOXL2: view

No data available for SIGNOR curated interactions for LOXL2 Gene

Drugs & Compounds for LOXL2 Gene

(8) Drugs for LOXL2 Gene - From: Novoseek, HMDB, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Pharma 158
Antibodies Pharma 4477
Antibodies, Monoclonal Pharma 2413
Immunoglobulins Pharma 4477
Immunologic Factors Pharma 18483

(7) Additional Compounds for LOXL2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Docosanoyl-CoA
  • Behenoyl-CoA
  • Behenoyl-Coenzyme A
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with LOXL2: view

Transcripts for LOXL2 Gene

Unigene Clusters for LOXL2 Gene

Lysyl oxidase-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LOXL2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
SP1: - - - - -
SP2: - - -
SP3:
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for LOXL2 Gene

GeneLoc Exon Structure for
LOXL2
ECgene alternative splicing isoforms for
LOXL2

Expression for LOXL2 Gene

mRNA expression in normal human tissues for LOXL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LOXL2 Gene

This gene is overexpressed in Amniocyte (62.0) and Bone marrow mesenchymal stem cell (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LOXL2 Gene



SOURCE GeneReport for Unigene cluster for LOXL2 Gene Hs.626637

mRNA Expression by UniProt/SwissProt for LOXL2 Gene

Q9Y4K0-LOXL2_HUMAN
Tissue specificity: Expressed in many tissues. Highest expression in reproductive tissues, placenta, uterus and prostate. Up-regulated in a number of cancers cells and tissues.
genes like me logo Genes that share expression patterns with LOXL2: view

Protein tissue co-expression partners for LOXL2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for LOXL2 Gene

Orthologs for LOXL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LOXL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOXL2 35
  • 90.12 (n)
  • 93.46 (a)
LOXL2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOXL2 35
  • 89.75 (n)
  • 92.12 (a)
LOXL2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Loxl2 35
  • 84.65 (n)
  • 86.55 (a)
Loxl2 16
Loxl2 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Loxl2 35
  • 84.86 (n)
  • 87.45 (a)
oppossum
(Monodelphis domestica)
Mammalia LOXL2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LOXL2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOXL2 35
  • 77.35 (n)
  • 81.31 (a)
LOXL2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LOXL2 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia loxl2 35
  • 70.72 (n)
  • 73.8 (a)
Str.11918 35
zebrafish
(Danio rerio)
Actinopterygii Dr.715 35
loxl2b 35
  • 70.2 (n)
  • 72.9 (a)
LOXL2 (3 of 3) 36
  • 70 (a)
OneToMany
loxl2a 36
  • 68 (a)
OneToMany
loxl2b 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta lox 37
  • 42 (a)
lox2 37
  • 42 (a)
lox2 35
  • 54.22 (n)
  • 46.17 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta SCRAL1 35
  • 54.97 (n)
  • 43.88 (a)
Species with no ortholog for LOXL2:
  • A. gosspyii yeast (Ashbya 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)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for LOXL2 Gene

ENSEMBL:
Gene Tree for LOXL2 (if available)
TreeFam:
Gene Tree for LOXL2 (if available)

Paralogs for LOXL2 Gene

Paralogs for LOXL2 Gene

genes like me logo Genes that share paralogs with LOXL2: view

Variants for LOXL2 Gene

Sequence variations from dbSNP and Humsavar for LOXL2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1063582 - 23,309,840(-) TGTTC(A/C)TGCTG reference, missense
VAR_050009 -
rs4602894 - 23,328,456(+) TGGCC(A/C/G)ACACC reference, missense
rs9465 -- 23,297,368(-) TGGAA(A/G)TACAA utr-variant-3-prime
rs13221 -- 23,297,863(-) CATGG(A/G)GGGCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for LOXL2 Gene

Variant ID Type Subtype PubMed ID
nsv890680 CNV Loss 21882294
nsv890681 CNV Loss 21882294
esv25599 CNV Loss 19812545
nsv831268 CNV Gain 17160897
nsv6118 CNV Insertion 18451855
nsv470206 CNV Gain 18288195

Variation tolerance for LOXL2 Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LOXL2 Gene

HapMap Linkage Disequilibrium report
LOXL2
Human Gene Mutation Database (HGMD)
LOXL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOXL2 Gene

Disorders for LOXL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LOXL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hyperostosis cranialis interna
chronic cholangitis
craniometaphyseal dysplasia
  • craniometaphyseal dysplasia, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards
Search LOXL2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LOXL2

Genetic Association Database (GAD)
LOXL2
Human Genome Epidemiology (HuGE) Navigator
LOXL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LOXL2
genes like me logo Genes that share disorders with LOXL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOXL2 Gene

Publications for LOXL2 Gene

  1. Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. (PMID: 17287949) Akagawa H. … Inoue I. (Hum. Genet. 2007) 3 23 48 67
  2. The human lysyl oxidase-related gene (LOXL2) maps between markers D8S280 and D8S278 on chromosome 8p21.2-p21.3. (PMID: 9722957) Jourdan-Le Saux C. … Csiszar K. (Genomics 1998) 2 3 23
  3. Functional analysis of LOXL2 in pancreatic carcinoma. (PMID: 20012301) RA1ckert F. … Pilarsky C. (Int J Colorectal Dis 2010) 3 23
  4. The lysyl oxidases LOX and LOXL2 are necessary and sufficient to repress E-cadherin in hypoxia: insights into cellular transformation processes mediated by HIF-1. (PMID: 20026874) Schietke R. … Wiesener M.S. (J. Biol. Chem. 2010) 3 23
  5. Forkhead box A1 transcriptional pathway in KRT7-expressing esophageal squamous cell carcinomas with extensive lymph node metastasis. (PMID: 20043065) Sano M. … Sasaki H. (Int. J. Oncol. 2010) 3 23

Products for LOXL2 Gene

Sources for LOXL2 Gene

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