Gene Gene information from NCBI Gene database.
Entrez ID 84171
Gene name Lysyl oxidase like 4
Gene symbol LOXL4
Synonyms (NCBI Gene)
LOXC
Chromosome 10
Chromosome location 10q24.2
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.
190
miRTarBase ID miRNA Experiments Reference
MIRT017606 hsa-miR-335-5p Microarray 18185580
MIRT022543 hsa-miR-124-3p Microarray 18668037
MIRT438917 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
MIRT438917 hsa-miR-29b-3p Luciferase reporter assayqRT-PCR 23354167
MIRT1115401 hsa-miR-1275 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 18949373
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0004720 Function Protein-lysine 6-oxidase activity IBA
GO:0004720 Function Protein-lysine 6-oxidase activity IDA 14551188
GO:0004720 Function Protein-lysine 6-oxidase activity IEA
GO:0005507 Function Copper ion binding IEA
GO:0005515 Function Protein binding IPI 16189514, 19060904, 23455924, 25416956, 28514442, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607318 17171 ENSG00000138131
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JB6
Protein name Lysyl oxidase homolog 4 (EC 1.4.3.13) (Lysyl oxidase-like protein 4) (Lysyl oxidase-related protein C)
Protein function Catalyzes the oxidative deamination of lysine and hydroxylysine residues in collagen and elastin, resulting in the formation of covalent cross-linkages, and the stabilization of collagen and elastin fibers.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00530 SRCR 37 133 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 169 287 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 314 411 Scavenger receptor cysteine-rich domain Domain
PF00530 SRCR 424 529 Scavenger receptor cysteine-rich domain Domain
PF01186 Lysyl_oxidase 533 733 Lysyl oxidase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, the highest levels among the tissues studied being in the skeletal muscle, testis and pancreas. Expressed in cartilage.
Sequence
Sequence length 756
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.).
14
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
ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
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
Bladder Neoplasm Bladder Neoplasm BEFREE 17456585, 25311867, 29732010
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm CTD_human_DG 17456585
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22806361, 22921864, 28060764
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38518152 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 17354256, 21115907, 22806361, 24792014
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26097573 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30704479 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 17456585, 25311867, 29732010
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30633357, 30993701
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 19724858
★☆☆☆☆
Found in Text Mining only