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 defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq,... See more...

Aliases for LOXL3 Gene

Aliases for LOXL3 Gene

  • Lysyl Oxidase Like 3 2 3 5
  • Lysyl Oxidase-Like Protein 3 3 4
  • Lysyl Oxidase Homolog 3 3 4
  • EC 1.4.3.13 4 50
  • LOXL 3 4
  • Lysyl Oxidase-Like 3 2
  • EC 1.4.3.- 4
  • EC 1.4.3 50
  • LOXL3 5

External Ids for LOXL3 Gene

Previous GeneCards Identifiers for LOXL3 Gene

  • GC02M074897
  • GC02M074972
  • GC02M074717
  • GC02M074734
  • GC02M074671
  • GC02M074613
  • GC02M074760
  • GC02M074496

Summaries for LOXL3 Gene

Entrez Gene Summary for LOXL3 Gene

  • 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 defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]

GeneCards Summary for LOXL3 Gene

LOXL3 (Lysyl Oxidase Like 3) is a Protein Coding gene. Diseases associated with LOXL3 include 3-Methylglutaconic Aciduria, Type Viii and Stickler Syndrome, Type I. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include copper ion binding and oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor. An important paralog of this gene is LOXL2.

UniProtKB/Swiss-Prot Summary for LOXL3 Gene

  • 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 of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600).
  • [Isoform 1]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type VIII (PubMed:17018530).
  • [Isoform 2]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530).

Gene Wiki entry for LOXL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOXL3 Gene

Genomics for LOXL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOXL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J074550 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +2.0 1961 5.7 BCLAF1 ZNF207 MYC ZNF600 IKZF1 SSRP1 JUND ATF2 BRCA1 POLR2A DOK1 LOXL3 ACTG2 LBX2-AS1 AUP1 HTRA2 TLX2 PCGF1 DQX1 MRPL53
GH02J074556 Enhancer 0.3 dbSUPER 250.7 -1.6 -1629 1 POLR2A ZNF558 LOXL3 DOK1 HSALNG0016082 M1AP
GH02J074528 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +25.4 25394 4.4 BCLAF1 SP1 ZNF207 ZNF654 MYC NCOR1 IKZF1 ZNF600 SIX5 ZNF592 AUP1 HTRA2 HSALNG0016075 lnc-DQX1-1 PCGF1 CCDC142 LBX2 ENSG00000273245 TTC31 WBP1
GH02J074575 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -21.1 -21111 2.9 GABPA IRF4 GABPB1 RAD21 SPI1 MYC MAX POLR2A BATF ELF1 lnc-LOXL3-1 DOK1 LOXL3 AUP1 HTRA2 DQX1 TLX2 PCGF1 LBX2 CCDC142
GH02J074487 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 +65.4 65435 5 SSRP1 ZMYM3 CEBPA ATF3 CHD4 YY1 HOMEZ KMT2B THAP11 FOXA2 piR-55371 LBX2 AUP1 HTRA2 DQX1 MOGS TLX2 WBP1 DOK1 LOXL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOXL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LOXL3

Top Transcription factor binding sites by QIAGEN in the LOXL3 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • E47
  • Nkx2-5
  • STAT1

Genomic Locations for LOXL3 Gene

Latest Assembly
chr2:74,532,258-74,555,719
(GRCh38/hg38)
Size:
23,462 bases
Orientation:
Minus strand

Previous Assembly
chr2:74,759,385-74,781,069
(GRCh37/hg19 by Entrez Gene)
Size:
21,685 bases
Orientation:
Minus strand

chr2:74,759,541-74,782,817
(GRCh37/hg19 by Ensembl)
Size:
23,277 bases
Orientation:
Minus strand

Genomic View for LOXL3 Gene

Genes around LOXL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOXL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOXL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOXL3 Gene

Proteins for LOXL3 Gene

  • Protein details for LOXL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58215-LOXL3_HUMAN
    Recommended name:
    Lysyl oxidase homolog 3
    Protein Accession:
    P58215
    Secondary Accessions:
    • D6W5J1
    • Q2EHP2
    • Q6IPL7
    • Q96RS1

    Protein attributes for LOXL3 Gene

    Size:
    753 amino acids
    Molecular mass:
    83166 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489;
    Quaternary structure:
    • Interacts with STAT3 (PubMed:28065600).
    Miscellaneous:
    • [Isoform 2]: Misses three SRCR domains.

    Alternative splice isoforms for LOXL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LOXL3 Gene

Selected DME Specific Peptides for LOXL3 Gene

P58215:
  • DIDCQWIDITDV
  • ESDFTNN
  • GEGRVEVL
  • IHLSEVRC
  • RRLLRFS
  • YECANFG
  • DAGVRCN
  • NGTKVAEGHKASFCLEDTEC

Post-translational modifications for LOXL3 Gene

  • The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.
  • Glycosylation at Asn390, Asn111, Asn481, Asn625, and Asn266
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LOXL3_HUMAN (1481)

Domains & Families for LOXL3 Gene

Gene Families for LOXL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for LOXL3 Gene

InterPro:
Blocks:
  • Speract/scavenger receptor
  • Lysyl oxidase

Suggested Antigen Peptide Sequences for LOXL3 Gene

GenScript: Design optimal peptide antigens:
  • Lysyl oxidase-like protein 3 (LOXL3_HUMAN)
  • Lysyl oxidase-like protein 3 variant (Q2EHP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P58215

UniProtKB/Swiss-Prot:

LOXL3_HUMAN :
  • Belongs to the lysyl oxidase family.
Family:
  • Belongs to the lysyl oxidase family.
genes like me logo Genes that share domains with LOXL3: view

Function for LOXL3 Gene

Molecular function for LOXL3 Gene

UniProtKB/Swiss-Prot 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 of elastin and different types of collagens, a prerequisite in the formation of cross-links between collagens and elastin (PubMed:17018530). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (By similarity). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (PubMed:28065600). Also able to catalyze deacetylation of lysine residues on STAT3 (PubMed:28065600).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type VIII (PubMed:17018530).
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl-[protein] + H2O2 + NH4(+); Xref=Rhea:RHEA:24544, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:12448, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:131803; EC=1.4.3.13; Evidence={ECO:0000269|PubMed:28065600};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(6)-acetyl-L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl-[protein] + acetamide + H2O2; Xref=Rhea:RHEA:51648, Rhea:RHEA-COMP:10731, Rhea:RHEA-COMP:12448, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:27856, ChEBI:CHEBI:61930, ChEBI:CHEBI:131803; Evidence={ECO:0000269|PubMed:28065600};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=6.72 uM for STAT3 acetylated at 'Lys-685' (for deacetylation activity) {ECO:0000269|PubMed:28065600}; KM=1.59 uM for STAT3 acetylated at 'Lys-685' (for lysine 6-oxidase activity) {ECO:0000269|PubMed:28065600}; Note=kcat is 0.058 sec(-1) with STAT3 acetylated at 'Lys-685' (for deacetylation activity). kcat is 0.022 sec(-1) with STAT3 acetylated at 'Lys-685' (for lysine 6-oxidase activity). {ECO:0000269|PubMed:28065600};

Enzyme Numbers (IUBMB) for LOXL3 Gene

Phenotypes From GWAS Catalog for LOXL3 Gene

Gene Ontology (GO) - Molecular Function for LOXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001968 fibronectin binding ISS --
GO:0004720 protein-lysine 6-oxidase activity IEA,NAS 11284725
GO:0005044 scavenger receptor activity IEA --
GO:0005507 copper ion binding IEA,NAS 11284725
GO:0005515 protein binding IPI 16096638
genes like me logo Genes that share ontologies with LOXL3: view
genes like me logo Genes that share phenotypes with LOXL3: view

Human Phenotype Ontology for LOXL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LOXL3 Gene

MGI Knock Outs for LOXL3:

Animal Models for research

  • Taconic Biosciences Mouse Models for LOXL3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOXL3

No data available for Transcription Factor Targets and HOMER Transcription for LOXL3 Gene

Localization for LOXL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LOXL3 Gene

Secreted, extracellular space. Cytoplasm. Nucleus. Note=It is unclear how LOXL3 is both intracellular (cytoplasmic and nuclear) and extracellular: it contains a clear signal sequence and is predicted to localize in the extracellular medium. However, the intracellular location is clearly reported and at least another protein of the family (LOXL2) also has intracellular and extracellular localization despite the presence of a signal sequence (PubMed:28065600). {ECO:0000269 PubMed:28065600}.
[Isoform 1]: Secreted, extracellular space.
[Isoform 2]: Cytoplasm. Secreted, extracellular space.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LOXL3 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LOXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 11284725
GO:0005615 extracellular space IEA,ISS --
GO:0005634 nucleus TAS 16096638
GO:0005737 cytoplasm IEA,IDA 28065600
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LOXL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LOXL3 Gene

Pathways & Interactions for LOXL3 Gene

genes like me logo Genes that share pathways with LOXL3: view

Gene Ontology (GO) - Biological Process for LOXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition IDA 16096638
GO:0006897 endocytosis IEA --
GO:0006954 inflammatory response IBA,ISS --
GO:0018057 peptidyl-lysine oxidation IEA,IDA 28065600
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with LOXL3: view

No data available for SIGNOR curated interactions for LOXL3 Gene

Drugs & Compounds for LOXL3 Gene

(1) Drugs for LOXL3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma 276

(2) Additional Compounds for LOXL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LOXL3: view

Transcripts for LOXL3 Gene

mRNA/cDNA for LOXL3 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOXL3

Alternative Splicing Database (ASD) splice patterns (SP) for LOXL3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2: - - -
SP3: - - - - -
SP4: -
SP5:

Relevant External Links for LOXL3 Gene

GeneLoc Exon Structure for
LOXL3

Expression for LOXL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LOXL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LOXL3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.0), Bone marrow mesenchymal stem cell (15.1), Serum (12.2), and Bone (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LOXL3 Gene



Protein tissue co-expression partners for LOXL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOXL3

SOURCE GeneReport for Unigene cluster for LOXL3 Gene:

Hs.469045

mRNA Expression by UniProt/SwissProt for LOXL3 Gene:

P58215-LOXL3_HUMAN
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 all layers of corneas as well as in the limbus and conjunctiva (at protein level) (PubMed:26218558).
genes like me logo Genes that share expression patterns with LOXL3: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOXL3 Gene

Orthologs for LOXL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LOXL3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOXL3 29 30
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOXL3 29 30
  • 91.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOXL3 29 30
  • 91.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Loxl3 29 16 30
  • 87.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Loxl3 29
  • 87.78 (n)
Oppossum
(Monodelphis domestica)
Mammalia LOXL3 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOXL3 29 30
  • 72.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LOXL3 30
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13606 29
Zebrafish
(Danio rerio)
Actinopterygii loxl3a 29 30
  • 66.01 (n)
OneToMany
loxl3b 30
  • 65 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta lox 31
  • 40 (a)
lox2 31
  • 40 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12248 29
Species where no ortholog for LOXL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LOXL3 Gene

ENSEMBL:
Gene Tree for LOXL3 (if available)
TreeFam:
Gene Tree for LOXL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LOXL3: view image
Alliance of Genome Resources:
Additional Orthologs for LOXL3

Paralogs for LOXL3 Gene

(8) SIMAP similar genes for LOXL3 Gene using alignment to 10 proteins:

  • LOXL3_HUMAN
  • B8ZZT6_HUMAN
  • B9A025_HUMAN
  • C9J5M1_HUMAN
  • E7END4_HUMAN
  • H7C248_HUMAN
  • L8E911_HUMAN
  • Q2EHP2_HUMAN
  • Q53TY1_HUMAN
  • Q6IPL7_HUMAN

Pseudogenes.org Pseudogenes for LOXL3 Gene

genes like me logo Genes that share paralogs with LOXL3: view

Variants for LOXL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOXL3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
896084 Uncertain Significance: Parkinson disease 13 74,533,250(-) C/T
NM_013247.5(HTRA2):c.*265C>T
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
897673 Uncertain Significance: Parkinson disease 13 74,533,252(-) C/T
NM_013247.5(HTRA2):c.*267C>T
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
rs1057519080 Pathogenic: 3-methylglutaconic aciduria, type VIII 74,532,919(-) GGCAGT/G
NM_032603.5(LOXL3):c.*682_*686del
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
rs114661282 Benign: Parkinson disease 13 74,533,516(-) A/G
NM_032603.5(LOXL3):c.*90T>C
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
rs1380794702 Uncertain Significance: not provided 74,532,713(-) C/T
NM_032603.5(LOXL3):c.*893G>A
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LOXL3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LOXL3 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850

Variation tolerance for LOXL3 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.36; 81.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LOXL3 Gene

Human Gene Mutation Database (HGMD)
LOXL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LOXL3
Leiden Open Variation Database (LOVD)
LOXL3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LOXL3 Gene

Disorders for LOXL3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LOXL3 Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search LOXL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LOXL3_HUMAN
  • Note=Defects in LOXL3 are found in a family with an autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence and sensorineural deafness (PubMed:25663169). Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate) (PubMed:25663169). The degree of hearing loss varies among affected individuals and may become more severe over time (PubMed:25663169). Syndrome expressivity is variable (PubMed:25663169). Ocular disorders include non-progressive myopia with associated chorioretinal degeneration (PubMed:25663169). Defects in LOXL3 are found in another family with early-onset high myopia (PubMed:26957899). The disease may be caused by variants affecting the gene represented in this entry (PubMed:25663169, PubMed:26957899). {ECO:0000269 PubMed:25663169, ECO:0000269 PubMed:26957899}.

Additional Disease Information for LOXL3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LOXL3: view

No data available for Genatlas for LOXL3 Gene

Publications for LOXL3 Gene

  1. Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein. (PMID: 11386757) Jourdan-Le Saux C … Csiszar K (Genomics 2001) 2 3 4 22
  2. Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. (PMID: 17287949) Akagawa H … Inoue I (Human genetics 2007) 3 22 40
  3. A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity. (PMID: 17018530) Lee JE … Kim Y (The Journal of biological chemistry 2006) 3 4 22
  4. Cloning and characterization of a human lysyl oxidase-like 3 gene (hLOXL3). (PMID: 11334717) Huang Y … Mao Y (Matrix biology : journal of the International Society for Matrix Biology 2001) 3 4 22
  5. Cloning and characterization of a fourth human lysyl oxidase isoenzyme. (PMID: 11284725) Mäki JM … Kivirikko KI (The Biochemical journal 2001) 3 4 22

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Sources for LOXL3 Gene