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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 of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
LOXL2 (Lysyl Oxidase Like 2) is a Protein Coding gene. Diseases associated with LOXL2 include Hyperostosis Cranialis Interna and Mid-Dermal Elastolysis. Among its related pathways are Degradation of the extracellular matrix and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include chromatin binding and electron transfer activity. An important paralog of this gene is LOXL3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004720 | protein-lysine 6-oxidase activity | IBA,IDA | 23319596 |
GO:0005044 | scavenger receptor activity | IEA | -- |
GO:0005507 | copper ion binding | IDA | 29581294 |
GO:0005509 | calcium ion binding | IDA | 29581294 |
GO:0005515 | protein binding | IPI | 16096638 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IDA | 27735137 |
GO:0005576 | extracellular region | IEA | -- |
GO:0005604 | basement membrane | ISS | -- |
GO:0005615 | extracellular space | TAS,IDA | 23319596 |
GO:0005634 | nucleus | TAS | 16096638 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization | ||
2 | Elastic fibre formation | ||
3 | Degradation of the extracellular matrix | ||
4 | SMAD2/3 MH2 Domain Mutants in Cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 25959397 |
GO:0001666 | response to hypoxia | IEA,ISS | -- |
GO:0001837 | epithelial to mesenchymal transition | IDA | 16096638 |
GO:0001935 | endothelial cell proliferation | IMP | 21835952 |
GO:0002040 | sprouting angiogenesis | IMP | 21835952 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Docosanoyl-CoA |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Cow (Bos Taurus) |
Mammalia | LOXL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOXL2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Loxl2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Loxl2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LOXL2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LOXL2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOXL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LOXL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | loxl2 30 |
|
||
Str.11918 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | loxl2b 30 31 |
|
OneToMany | |
LOXL2 (3 of 3) 31 |
|
OneToMany | |||
loxl2a 31 |
|
OneToMany | |||
Dr.715 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | SCRAL1 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | lox2 30 32 |
|
||
lox 32 |
|
|
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715812 | Benign: not provided | 23,368,195(-) | C/A | MISSENSE_VARIANT | |
716530 | Benign: not provided | 23,360,210(-) | T/G | SYNONYMOUS_VARIANT | |
792103 | Benign: not provided | 23,360,240(-) | G/A | SYNONYMOUS_VARIANT | |
rs200187619 | Likely Benign: not specified | 23,302,174(-) | G/T | INTRON_VARIANT | |
rs1063582 | - | p.Met570Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7139n100 | CNV | loss | 25217958 |
dgv7140n100 | CNV | gain | 25217958 |
esv25599 | CNV | loss | 19812545 |
nsv1017570 | CNV | gain | 25217958 |
nsv1026345 | CNV | gain | 25217958 |
nsv1117811 | CNV | deletion | 24896259 |
nsv1134912 | CNV | tandem duplication | 24896259 |
nsv470206 | CNV | gain | 18288195 |
nsv472520 | CNV | novel sequence insertion | 20440878 |
nsv610778 | CNV | loss | 21841781 |
nsv610779 | CNV | gain | 21841781 |
nsv6118 | CNV | insertion | 18451855 |
nsv831268 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperostosis cranialis interna |
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mid-dermal elastolysis |
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|
wilson disease |
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prediabetes syndrome |
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breast cancer |
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