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

Gene ID: 4017, updated on 4-Jan-2025

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
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Genomic context

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Potential readthrough

Included gene: ENTPD4

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding PubMed 
enables copper ion binding PubMed 
enables oligosaccharide binding PubMed 
enables protein binding PubMed 
enables protein-lysine 6-oxidase activity  
enables protein-lysine 6-oxidase activity PubMed 
Process Evidence Code Pubs
involved_in collagen fibril organization  
involved_in collagen fibril organization PubMed 
involved_in endothelial cell migration PubMed 
involved_in endothelial cell proliferation PubMed 
involved_in epithelial to mesenchymal transition PubMed 
involved_in heterochromatin organization PubMed 
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of stem cell population maintenance  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in peptidyl-lysine oxidation PubMed 
involved_in positive regulation of chondrocyte differentiation  
involved_in positive regulation of epithelial to mesenchymal transition PubMed 
involved_in protein modification process PubMed 
involved_in response to copper ion PubMed 
involved_in response to hypoxia  
involved_in sprouting angiogenesis  
involved_in sprouting angiogenesis PubMed 
Component Evidence Code Pubs
located_in basement membrane  
located_in chromatin PubMed 
colocalizes_with collagen-containing extracellular matrix PubMed 
located_in collagen-containing extracellular matrix PubMed 
is_active_in collagen-containing extracellular matrix  
located_in endoplasmic reticulum PubMed 
is_active_in extracellular space  
located_in extracellular space PubMed 
located_in membrane  
located_in nucleoplasm  
located_in nucleus PubMed 
located_in nucleus PubMed 

General protein information

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_002318.3NP_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:58159
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:67159
    SRCR; Scavenger receptor cysteine-rich domain
    pfam01186
    Location:548743
    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)
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