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LOXL2 lysyl oxidase like 2 [ Homo sapiens (human) ]

Gene ID: 4017, updated on 3-Nov-2024

Summary

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Official Symbol
LOXL2provided by HGNC
Official Full Name
lysyl oxidase like 2provided by HGNC
Primary source
HGNC:HGNC:6666
See related
Ensembl:ENSG00000134013 MIM:606663; AllianceGenome:HGNC:6666
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LOR; LOR2; WS9-14
Summary
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]
Expression
Broad expression in placenta (RPKM 21.2), fat (RPKM 16.1) and 20 other tissues See more
Orthologs
all
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Genomic context

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See LOXL2 in Genome Data Viewer
Location:
8p21.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (23296897..23404120, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23571770..23679001, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23154410..23261633, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr8:23100842-23101343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27114 Neighboring gene MPRA-validated peak6945 silencer Neighboring gene charged multivesicular body protein 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23129689-23130226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159094-23159594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23159595-23160095 Neighboring gene R3H domain and coiled-coil containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23177410-23177975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23182003-23182503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23195830-23196330 Neighboring gene LOXL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23209911-23210493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23236632-23237224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23237225-23237815 Neighboring gene Sharpr-MPRA regulatory region 9444 Neighboring gene Sharpr-MPRA regulatory region 13358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23273382-23273902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:23279735-23280235 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:23308148-23308855 Neighboring gene Sharpr-MPRA regulatory region 8456 Neighboring gene NANOG hESC enhancer GRCh37_chr8:23312327-23312828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19024 Neighboring gene ENTPD4 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23326741-23327240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:23339113-23340081 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Proteomic Profiling of Human Prostate Cancer-associated Fibroblasts (CAF) Reveals LOXL2-dependent Regulation of the Tumor Microenvironment. Nguyen EV, et al. Mol Cell Proteomics, 2019 Jul. PMID 31061140, Free PMC Article
  2. Extracellular Processing of Lysyl Oxidase-like 2 and Its Effect on Amine Oxidase Activity. Okada K, et al. Biochemistry, 2018 Dec 26. PMID 30499665, Free PMC Article
  3. LOXL2 promotes vasculogenic mimicry and tumour aggressiveness in hepatocellular carcinoma. Shao B, et al. J Cell Mol Med, 2019 Feb. PMID 30506621, Free PMC Article
  4. Exosomes from hypoxic endothelial cells have increased collagen crosslinking activity through up-regulation of lysyl oxidase-like 2. de Jong OG, et al. J Cell Mol Med, 2016 Feb. PMID 26612622, Free PMC Article
  5. Tumor-suppressive microRNAs (miR-26a/b, miR-29a/b/c and miR-218) concertedly suppressed metastasis-promoting LOXL2 in head and neck squamous cell carcinoma. Fukumoto I, et al. J Hum Genet, 2016 Feb. PMID 26490187

See all (183) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LOXL2-mediated chromatin compaction is required to maintain the oncogenic properties of triple-negative breast cancer cells.
    Title: LOXL2-mediated chromatin compaction is required to maintain the oncogenic properties of triple-negative breast cancer cells.
  2. MiR-4465-modified mesenchymal stem cell-derived small extracellular vesicles inhibit liver fibrosis development via targeting LOXL2 expression.
    Title: MiR-4465-modified mesenchymal stem cell-derived small extracellular vesicles inhibit liver fibrosis development via targeting LOXL2 expression.
  3. Simultaneous disturbance of NHE1 and LOXL2 decreases tumorigenicity of head and neck squamous cell carcinoma.
    Title: Simultaneous disturbance of NHE1 and LOXL2 decreases tumorigenicity of head and neck squamous cell carcinoma.
  4. The role of LOXL2 induced by glucose metabolism-activated NF-kappaB in maintaining drug resistance through EMT and cancer stemness in gemcitabine-resistant PDAC.
    Title: The role of LOXL2 induced by glucose metabolism-activated NF-κB in maintaining drug resistance through EMT and cancer stemness in gemcitabine-resistant PDAC.
  5. Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3.
    Title: Lysyl oxidase-like 2 promotes stemness and enhances antitumor effects of gefitinib in head and neck cancer via IFIT1 and IFIT3.
  6. Lysyl oxidase like-2 in fibrosis and cardiovascular disease.
    Title: Lysyl oxidase like-2 in fibrosis and cardiovascular disease.
  7. Multiple Roles of LOXL2 in the Progression of Hepatocellular Carcinoma and Its Potential for Therapeutic Targeting.
    Title: Multiple Roles of LOXL2 in the Progression of Hepatocellular Carcinoma and Its Potential for Therapeutic Targeting.
  8. Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.
    Title: Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.
  9. LOXL2 reduces 5-FU sensitivity through the Hedgehog/BCL2 signaling pathway in colorectal cancer.
    Title: LOXL2 reduces 5-FU sensitivity through the Hedgehog/BCL2 signaling pathway in colorectal cancer.
  10. TRIM44 regulates tumor immunity in gastric cancer through LOXL2-dependent extracellular matrix remodeling.
    Title: TRIM44 regulates tumor immunity in gastric cancer through LOXL2-dependent extracellular matrix remodeling.
Submit: New GeneRIF Correction See all GeneRIFs (148)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: ENTPD4

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables copper ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables oligosaccharide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-lysine 6-oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-lysine 6-oxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heterochromatin organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptidyl-lysine oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of chondrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein modification process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to copper ion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sprouting angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in basement membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
lysyl oxidase homolog 2
Names
lysyl oxidase related 2
lysyl oxidase-like 2 delta e13
lysyl oxidase-like 2 protein
lysyl oxidase-like protein 2
lysyl oxidase-related protein 2
lysyl oxidase-related protein WS9-14
NP_002309.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002318.3 → NP_002309.1  lysyl oxidase homolog 2 precursor

    See identical proteins and their annotated locations for NP_002309.1

    Status: REVIEWED

    Source sequence(s)
    AC090197, AC104561, BC020481, U89942
    Consensus CDS
    CCDS34864.1
    UniProtKB/Swiss-Prot
    B2R5Q0, Q53HV3, Q9BW70, Q9Y4K0, Q9Y5Y8
    UniProtKB/TrEMBL
    W8QRJ0
    Related
    ENSP00000373783.3, ENST00000389131.8
    Conserved Domains (3) summary
    smart00202
    Location:58 → 159
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:67 → 159
    SRCR; Scavenger receptor cysteine-rich domain
    pfam01186
    Location:548 → 743
    Lysyl_oxidase; Lysyl oxidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    23296897..23404120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    23571770..23679001 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y4K0.1 GenPept UniProtKB/Swiss-Prot:Q9Y4K0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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