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

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Lysyl oxidase like-2 in fibrosis and cardiovascular disease.
Title: Lysyl oxidase like-2 in fibrosis and cardiovascular disease.
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.
Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.
Title: Homozygous LOXL2 variant in individuals affected by non-syndromic occipital encephalocele.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

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 more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	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

EC 1.4.3.-

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_002318.3 → 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