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

Gene ID: 4017, updated on 5-Apr-2020

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
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

Genomic context

See LOXL2 in Genome Data Viewer
Location:
8p21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (23296897..23404120, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23154410..23261722, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379326 Neighboring gene R3H domain and coiled-coil containing 1 Neighboring gene uncharacterized LOC100507156 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 4 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ENTPD4

Homology

Gene Ontology Provided by GOA

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

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
    Q9Y4K0
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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