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

Summary

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Official Symbol: LOXL2provided by HGNC
Official Full Name: lysyl oxidase-like 2provided by HGNC
Primary source: HGNC:6666
See related: Ensembl:ENSG00000134013; HPRD:09446; MIM:606663; Vega:OTTHUMG00000163797
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: 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]

Genomic context

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Location :: 8p21.3

Sequence :: Chromosome: 8; NC_000008.10 (23154410..23261722, complement)

See LOXL2 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

the N-glycan at Asn-644 of hLOXL2 enhances the solubility and stability of the LOX catalytic domain
Title: Post-translational modifications of recombinant human lysyl oxidase-like 2 (rhLOXL2) secreted from Drosophila S2 cells.
Up-regulation of CCL2, CCL26, IL6 and LOXL2 genes in cancer cells are part of the common effects of cancer-associated fibroblasts on hepatocellular carcinoma cells
Title: Cancer-associated fibroblasts up-regulate CCL2, CCL26, IL6 and LOXL2 genes related to promotion of cancer progression in hepatocellular carcinoma cells.
Intracellular (perinuclear) expression of LOXL2 is associated with poor prognosis and distant metastasis of specific tumor types. [Review]
Title: LOXL2 in epithelial cell plasticity and tumor progression.
Down-regulation of lysyl oxidase-like 2 is associated with disease progression in lung adenocarcinomas.
Title: Down-regulation of lysyl oxidase-like 2 (LOXL2) is associated with disease progression in lung adenocarcinomas.
These results suggest that lysyl oxidase L2 exerts a critical effect on esophageal squamous cell carcinoma progression and can be a predictive marker of lymph node metastasis and outcome.
Title: Reduced nuclear and ectopic cytoplasmic expression of lysyl oxidase-like 2 is associated with lymph node metastasis and poor prognosis in esophageal squamous cell carcinoma.
LOXL2 activity is linked with the transcriptional control of CDH1 gene by regulating H3K4me3 deamination.
Title: Lysyl oxidase-like 2 deaminates lysine 4 in histone H3.
Breast carcinoma cell lines with basal-like phenotype show a specific cytoplasmic/perinuclear LOXL2 expression, and this subcellular distribution is significantly associated with distant metastatic incidence in basal-like breast carcinomas.
Title: Lysyl oxidase-like 2 (LOXL2), a new regulator of cell polarity required for metastatic dissemination of basal-like breast carcinomas.
This study provides the first evidence for the role of LOXL2 in regulating angiogenesis through collagen IV scaffolding.
Title: Lysyl oxidase-like protein-2 regulates sprouting angiogenesis and type IV collagen assembly in the endothelial basement membrane.
The human lysyl oxidase-like 2 gene does not confer increased genotypic risk for adolescent idiopathic scoliosis.
Title: Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.
Analysis of a published microarray data set revealed that LOXL2 expression is correlated with metastasis and decreased survival in patients with aggressive breast cancer
Title: LOXL2-mediated matrix remodeling in metastasis and mammary gland involution.

Submit: New GeneRIF Correction See all (29)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:110201	BioGRID:109180	PDIA3		BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
Collagen formation, organism-specific biosystem (from REACTOME)
Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
Crosslinking of collagen fibrils, organism-specific biosystem (from REACTOME)
Crosslinking of collagen fibrils, organism-specific biosystemAfter removal of the N- and C-procollagen propeptides, fibrillar collagen molecules aggregate into microfibrillar arrays, stabilized by covalent intermolecular cross-links. These depend on the oxidat...
Elastic fibre formation, organism-specific biosystem (from REACTOME)
Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
Extracellular matrix organization, organism-specific biosystem (from REACTOME)
Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin, fibronectin and laminin embedded in a viscoelastic gel of ani...

General gene information

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Markers

D16S3138 (e-PCR), detects polymorphism
- UniSTS:20321

SHGC-145691 (e-PCR)
- UniSTS:174730

SHGC-146104 (e-PCR)
- UniSTS:175008

LOXL2__6410 (e-PCR)
- UniSTS:471479

G59207 (e-PCR)
- UniSTS:136380

RH124140 (e-PCR)
- UniSTS:161004

STS-U89942 (e-PCR)
- UniSTS:26877

Homology

Homologs of the LOXL2 gene: The LOXL2 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and mosquito.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
chromatin binding	IDA Inferred from Direct Assay more info
copper ion binding	IEA Inferred from Electronic Annotation more info
electron carrier activity	TAS Traceable Author Statement more info	PubMed
methylated histone residue binding	IDA Inferred from Direct Assay more info
oligosaccharide binding	IDA Inferred from Direct Assay more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein-lysine 6-oxidase activity	IDA Inferred from Direct Assay more info
scavenger receptor activity	IEA Inferred from Electronic Annotation more info
transcription corepressor activity	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
aging	TAS Traceable Author Statement more info	PubMed
cell adhesion	TAS Traceable Author Statement more info	PubMed
cellular protein modification process	IDA Inferred from Direct Assay more info
collagen fibril organization	IMP Inferred from Mutant Phenotype more info
endothelial cell migration	IMP Inferred from Mutant Phenotype more info
endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info
epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
histone modification	IDA Inferred from Direct Assay more info
negative regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
oxidation-reduction process	IDA Inferred from Direct Assay more info
positive regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
protein deamination	IDA Inferred from Direct Assay more info
response to copper ion	IDA Inferred from Direct Assay more info
response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
sprouting angiogenesis	IMP Inferred from Mutant Phenotype more info
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
basement membrane	ISS Inferred from Sequence or Structural Similarity more info
chromosome	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info
membrane	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info
nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: lysyl oxidase homolog 2

Names: lysyl oxidase homolog 2; lysyl oxidase related 2; lysyl oxidase-like protein 2; lysyl oxidase-related protein 2; lysyl oxidase-related protein WS9-14

NP_002309.1

EC 1.4.3.-

EC 1.4.3.13

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)

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

Status: REVIEWED

Source sequence(s)

AC090197, AC104561, BC020481, U89942

Consensus CDS

CCDS34864.1

UniProtKB/Swiss-Prot

Q9Y4K0

Related

ENSP00000373783, OTTHUMP00000224942, ENST00000389131, OTTHUMT00000375603

Conserved Domains (2) summary

pfam01186
Location:548 – 751
Blast Score: 904

Lysyl_oxidase; Lysyl oxidase

smart00202
Location:58 – 159
Blast Score: 384

SR; Scavenger receptor Cys-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p10 Primary Assembly

Range

23154410..23261722, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

21700441..21807111, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018919.1 Alternate CHM1_1.0

Range

23408650..23516050, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01005540.1 (136..33957)	None
genomic	ABBA01005541.1	None
genomic	ABBA01005542.1	None
genomic	AC090197.23 (103046..103973)	None
genomic	AC104561.3 (121054..121145)	None
genomic	AMYH01018573.1 (133808..208652)	None
genomic	AMYH01018574.1	None
genomic	CH471080.2	EAW63625.1
		EAW63626.1
		EAW63627.1
mRNA	AF117949.1	AAD34343.1
mRNA	AK098436.1	None
mRNA	AK124508.1	None
mRNA	AK222477.1	BAD96197.1
mRNA	AK293292.1	BAG56815.1
mRNA	AK312266.1	BAG35197.1
mRNA	BC000594.2	AAH00594.1
mRNA	BC020481.1	None
mRNA	U89942.1	AAB49697.1
other-genetic	DQ892685.2	ABM83611.1
other-genetic	DQ895929.2	ABM86855.1