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The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
LAMP2 (Lysosomal Associated Membrane Protein 2) is a Protein Coding gene. Diseases associated with LAMP2 include Danon Disease and Rare Cardiomyopathy. Among its related pathways are Lysosome and Tuberculosis. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is LAMP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 26212789 |
GO:0019899 | enzyme binding | IPI | 22641697 |
GO:0019904 | protein domain specific binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000421 | autophagosome membrane | IEA | -- |
GO:0005615 | extracellular space | IDA | 25645918 |
GO:0005623 | cell | IEA | -- |
GO:0005764 | lysosome | IEA,IDA | 12536145 |
GO:0005765 | lysosomal membrane | IDA | 15297306 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
2 | Innate Immune System |
.61
|
|
3 | Autophagy - animal | ||
4 | Lysosome |
-
|
|
5 | Phagosome |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0006605 | protein targeting | ISS | -- |
GO:0006914 | autophagy | IEA | -- |
GO:0009267 | cellular response to starvation | IBA,ISS | -- |
GO:0017038 | protein import | TAS | 20176123 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP13: |
ExUns: | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||
SP2: | - | - | - | - | - | ||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: | - | - | |||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LAMP2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | LAMP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LAMP2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lamp2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lamp2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LAMP2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LAMP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LAMP2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lamp2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.30895 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lamp2 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Lamp1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
180873 | Uncertain Significance: Danon disease | 120,447,845(-) | T/C | MISSENSE_VARIANT | |
636417 | Likely Pathogenic: not provided | 120,447,913(-) | A/C | NONSENSE | |
636442 | Likely Pathogenic: not provided | 120,446,334(-) | TG/T | FRAMESHIFT_VARIANT | |
636563 | Uncertain Significance: not provided | 120,448,957(-) | A/T | INTRON_VARIANT | |
641626 | Uncertain Significance: Danon disease | 120,455,566(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659227 | CNV | deletion | 23128226 |
esv2740433 | CNV | deletion | 23290073 |
esv2758889 | CNV | loss | 17122850 |
esv3559258 | CNV | deletion | 23714750 |
nsv528786 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
danon disease |
|
|
rare cardiomyopathy |
|
|
atrial standstill 1 |
|
|
hypertrophic cardiomyopathy |
|
|
dilated cardiomyopathy |
|