Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4015
Gene name Gene Name - the full gene name approved by the HGNC.
Lysyl oxidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LOX
Synonyms (NCBI Gene) Gene synonyms aliases
AAT10
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
GATA3 Repression 21892208
HIF1A Unknown 17685448
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
153455 6664 ENSG00000113083
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aortic Aneurysm aortic aneurysm, familial thoracic 10 rs1213452826, rs876657852, rs886040965, rs886040966, rs886040967 N/A
Thoracic Aortic Aneurysm And Aortic Dissection familial thoracic aortic aneurysm and aortic dissection rs876657852, rs886040966 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Connective Tissue Disease Connective tissue disorder N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Keratoconus Keratoconus N/A N/A GWAS
Associations from Text Mining Disease 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