Gene Gene information from NCBI Gene database.
Entrez ID 4017
Gene name Lysyl oxidase like 2
Gene symbol LOXL2
Synonyms (NCBI Gene)
LORLOR2WS9-14
Chromosome 8
Chromosome location 8p21.3
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 o
miRNA miRNA information provided by mirtarbase database.
399
miRTarBase ID miRNA Experiments Reference
MIRT004135 hsa-miR-192-5p Microarray 16822819
MIRT438918 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
MIRT438918 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
MIRT709489 hsa-miR-128-3p HITS-CLIP 19536157
MIRT709488 hsa-miR-216a-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F5 Unknown 20012301
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 25959397
GO:0000785 Component Chromatin IDA 27735137
GO:0001666 Process Response to hypoxia IEA
GO:0001666 Process Response to hypoxia ISS
GO:0001837 Process Epithelial to mesenchymal transition IDA 16096638
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606663 6666 ENSG00000134013
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4K0
Protein name Lysyl oxidase homolog 2 (EC 1.4.3.13) (Lysyl oxidase-like protein 2) (Lysyl oxidase-related protein 2) (Lysyl oxidase-related protein WS9-14)
Protein function Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (PubMed:27735137). Acts as a transcription corepressor and specifically mediates deamination of
PDB 5ZE3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 62 159 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 196 302 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 329 425 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 438 544 Scavenger receptor cysteine-rich domain Domain
PF01186 Lysyl_oxidase 548 748 Lysyl oxidase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues (PubMed:10212285). Highest expression in reproductive tissues, placenta, uterus and prostate (PubMed:10212285). In esophageal epithelium, expressed in the basal, prickle and granular cell layers (PubMed:222047
Sequence
Sequence length 774
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Elastic fibre formation
Crosslinking of collagen fibrils
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17394133, 18559498
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21519871, 27860390
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 2882850, 2991573
★☆☆☆☆
Found in Text Mining only
Alport Syndrome Alport Syndrome BEFREE 29759420
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 31725165
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27050073, 30976063, 31662451
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 19710636, 38375886 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 29089463
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 30358741 Associate
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia BEFREE 31181019, 31436671
★☆☆☆☆
Found in Text Mining only