Gene Gene information from NCBI Gene database.
Entrez ID 4015
Gene name Lysyl oxidase
Gene symbol LOX
Synonyms (NCBI Gene)
AAT10
Chromosome 5
Chromosome location 5q23.1
Summary This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the m
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs886040966 C>T Likely-pathogenic, pathogenic Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1372924173 G>- Likely-pathogenic Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1473260982 C>A,T Pathogenic Missense variant, stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
426
miRTarBase ID miRNA Experiments Reference
MIRT003516 hsa-miR-124-3p Review 20144549
MIRT018405 hsa-miR-335-5p Microarray 18185580
MIRT437550 hsa-miR-29a-3p Luciferase reporter assay 22745231
MIRT437556 hsa-miR-29b-3p Luciferase reporter assay 22745231
MIRT437561 hsa-miR-29c-3p Luciferase reporter assay 22745231
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
GATA3 Repression 21892208
HIF1A Unknown 17685448
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0001649 Process Osteoblast differentiation IEA
GO:0004720 Function Protein-lysine 6-oxidase activity IBA
GO:0004720 Function Protein-lysine 6-oxidase activity IDA 31152061
GO:0004720 Function Protein-lysine 6-oxidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
153455 6664 ENSG00000113083
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28300
Protein name Protein-lysine 6-oxidase (EC 1.4.3.13) (Lysyl oxidase) [Cleaved into: Protein-lysine 6-oxidase, long form; Protein-lysine 6-oxidase, short form]
Protein function Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aort
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01186 Lysyl_oxidase 213 414 Lysyl oxidase Family
Tissue specificity TISSUE SPECIFICITY: Heart, placenta, skeletal muscle, kidney, lung and pancreas. {ECO:0000269|PubMed:7706256}.
Sequence
MRFAWTVLLLGPLQLCALVHCAPPAAGQQQPPREPPAAPGAWRQQIQWENNGQVFSLLSL
GSQYQPQRRRDPGAAVPGAANASAQQPRTPILLIRDNRTAAARTRTAGSSGVTAGRPRPT
ARHWFQAGYSTSRAREAGASRAENQTAPGEVPALSNLRPPSRVDGMVGDDPYNPYKYSDD
NPYYNYYDTYERPRPGGRYRPGYGTGYFQYGLPDLVADPYYIQASTYVQKMSMYNLRCAA
EENCLASTAYRADVRDYDHRVLLRFPQRVKNQGTSDFLPSRPRYSWEWHSCHQHYHSMDE
FSHYDLLDANTQRRVAEGHKASFCLEDTSCDYGYHRRFACTAHTQGLSPGCYDTYGADID
CQWIDITDVKPGNYILKVSVNPSYLVPESDYTNNVVRCDIRYTGHHAYASGCTI
SPY
Sequence length 417
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
361
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute aortic dissection Pathogenic; Likely pathogenic rs886040965, rs886040966, rs886040967, rs1473260982 RCV000755148
RCV000755141
RCV000755144
RCV000755142
Aortic aneurysm, familial thoracic 10 Pathogenic; Likely pathogenic rs766969559, rs1274931972, rs2152591749, rs2532908171, rs2532917019, rs2532918070, rs876657852, rs2532901248, rs886040965, rs886040966, rs886040967, rs1754655630, rs1213452826, rs1754538399 RCV001780381
RCV001780380
RCV001780379
RCV002287219
RCV002468741
RCV002470472
RCV000258026
RCV003159272
RCV000258025
RCV000258033
RCV000258037
RCV003335841
RCV003144387
RCV001251164
Cardiomyopathy Likely pathogenic; Pathogenic rs2532911330 RCV006255215
Cardiovascular phenotype Pathogenic; Likely pathogenic rs779512296, rs2532911330, rs2532911338, rs2532918093, rs2532917759, rs2532917277, rs2532916357, rs1473260982, rs756849358 RCV002386582
RCV002412612
RCV002445883
RCV002389209
RCV002424210
RCV002441867
RCV004513494
RCV002352260
RCV002366100
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Conflicting classifications of pathogenicity rs575190694 RCV000735872
Connective tissue disorder Conflicting classifications of pathogenicity rs765126342 RCV000659838
Emphysema Conflicting classifications of pathogenicity rs575190694 RCV000735872
Increased number of skin folds Conflicting classifications of pathogenicity rs575190694 RCV000735872
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 21523732
Adenoma Pleomorphic Associate 21553343
Aortic Aneurysm Associate 34281165
Aortic Aneurysm Abdominal Associate 29191809, 31473210
Aortic Aneurysm Thoracic Stimulate 23764410
Aortic Aneurysm Thoracic Associate 38002926
Aortic Diseases Associate 23764410, 38002926
Aortic Dissection Associate 26838787, 34281165
Astrocytoma Associate 25790191, 36076905
Atherosclerosis Associate 24588843, 35874788