Gene Gene information from NCBI Gene database.
Entrez ID 84695
Gene name Lysyl oxidase like 3
Gene symbol LOXL3
Synonyms (NCBI Gene)
LOXLMYP28
Chromosome 2
Chromosome location 2p13.1
Summary This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT1115386 hsa-miR-2113 CLIP-seq
MIRT1115387 hsa-miR-2467-3p CLIP-seq
MIRT1115388 hsa-miR-323-5p CLIP-seq
MIRT1115389 hsa-miR-34a CLIP-seq
MIRT1115390 hsa-miR-34c-5p CLIP-seq
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:0001837 Process Epithelial to mesenchymal transition IDA 16096638
GO:0001968 Function Fibronectin binding IEA
GO:0001968 Function Fibronectin binding ISS
GO:0004720 Function Protein-lysine 6-oxidase activity IBA
GO:0004720 Function Protein-lysine 6-oxidase activity IDA 28065600
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607163 13869 ENSG00000115318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P58215
Protein name Lysyl oxidase homolog 3 (EC 1.4.3.-) (EC 1.4.3.13) (Lysyl oxidase-like protein 3)
Protein function Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 50 145 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 181 282 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 310 407 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 420 525 Scavenger receptor cysteine-rich domain Domain
PF01186 Lysyl_oxidase 529 729 Lysyl oxidase Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1: Predominantly detected in the heart, placenta, lung, and small intestine (PubMed:17018530). Isoform 2: Highly detected in the kidney, pancreas, spleen, and thymus, and is absent in lung (PubMed:17018530). In eye, present in
Sequence
Sequence length 753
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.
33
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Myopia 28, autosomal recessive Pathogenic rs2104441352, rs2530025111 RCV001843703
RCV004798952
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
LOXL3-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs73949682, rs143795234, rs150977936, rs374923362, rs537721394, rs367759468, rs191994982, rs373048810, rs143919179, rs141075927, rs199751441, rs368213503, rs2529928278, rs755651920, rs765772693
View all (3 more)
RCV004746488
RCV003948812
RCV003968648
RCV003913683
RCV003933358
RCV003968782
RCV003968821
RCV003950869
RCV003950880
RCV003923794
RCV003963508
RCV003410392
RCV003393217
RCV003901241
RCV003893875
RCV003894170
RCV003908074
RCV003895757
LOXL3-related Stickler syndrome, autosomal recessive Uncertain significance; Conflicting classifications of pathogenicity rs756167221, rs1231646114 RCV005868466
RCV005868464
Malignant tumor of esophagus Likely benign rs371202558 RCV005926309
Melanoma Uncertain significance rs756276203 RCV005928406
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune Diseases Associate 34539672
Dystonic Disorders Associate 36917121
Frontotemporal Dementia Associate 34539672
Glioblastoma Associate 34360836
Lung Neoplasms Associate 38242344
Melanoma Associate 29229995, 36324258, 39273022
Moloney syndrome Associate 36917121
Myopia Associate 26957899, 36917121
Neoplasm Metastasis Associate 29229995, 34360836, 36324258, 38242344, 39273022
Neoplasms Associate 29229995, 34360836, 36076905, 36232621, 39273022