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

Gene ID: 4017, updated on 12-Apr-2014
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]
Location :
8p21.3
Sequence :
Chromosome: 8; NC_000008.11 (23296897..23404209, complement)
See LOXL2 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene charged multivesicular body protein 7 Neighboring gene R3H domain and coiled-coil containing 1 Neighboring gene uncharacterized LOC100507156 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 4 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 5 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
NHGRI GWA Catalog
  • 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 and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: ENTPD4

Homology

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-templated 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-templated 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
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
lysyl oxidase homolog 2
Names
lysyl oxidase homolog 2
lysyl oxidase related 2
lysyl oxidase-like 2 protein
lysyl oxidase-like protein 2
lysyl oxidase-like 2 delta e13
lysyl oxidase-related protein 2
lysyl oxidase-related protein WS9-14
NP_002309.1

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_002318.2NP_002309.1  lysyl oxidase homolog 2 precursor

    See proteins identical to NP_002309.1

    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:548749
    Blast Score: 931
    Lysyl_oxidase; Lysyl oxidase
    smart00202
    Location:58159
    Blast Score: 389
    SR; Scavenger receptor Cys-rich

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38 Primary Assembly

    Range
    23296897..23404209, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 Alternate HuRef

    Range
    21700441..21807111, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    23356541..23463832, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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