Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It contains heparin-, copper- and zinc- binding domains at the N-terminus, BPTI/Kunitz inhibitor and E2 domains in the middle region, and transmembrane and intracellular domains at the C-terminus. This protein interacts with major histocompatibility complex (MHC) class I molecules. The synergy of this protein and the APP is required to mediate neuromuscular transmission, spatial learning and synaptic plasticity. This protein has been implicated in the pathogenesis of Alzheimer's disease. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
APLP2 (Amyloid Beta Precursor Like Protein 2) is a Protein Coding gene. Diseases associated with APLP2 include Exudative Vitreoretinopathy 5 and Alzheimer Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include identical protein binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is APP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | NAS | 7702756 |
GO:0004867 | serine-type endopeptidase inhibitor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 8855266 |
GO:0008201 | heparin binding | IEA | -- |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 7702756 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | NAS | 8485127 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002576 | platelet degranulation | TAS | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | NAS | 8220435 |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0010951 | negative regulation of endopeptidase activity | IEA | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc | Approved, Investigational | Pharma | Target, cofactor | 1687 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
Zinc chloride | Approved, Investigational | Pharma | Target, ligand | 0 | ||
Zinc sulfate, unspecified form | Approved, Experimental | Pharma | Target, ligand | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d | · | 15e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APLP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | APLP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aplp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aplp2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | APLP2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | APLP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | APLP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | APLP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | APLP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.3393 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aplp2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Appl 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | apl-1 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2298587 | Benign: not provided | 130,122,522(+) |
A/C NM_001142276.2(APLP2):c.922+9A>C |
INTRON | |
rs371218526 | Benign: not provided | 130,140,492(+) |
G/A NM_001142276.2(APLP2):c.1923+9G>A |
INTRON | |
rs745958507 | Likely Benign: not provided | 130,143,361(+) |
C/T NM_001142276.2(APLP2):c.2169C>T (p.Leu723=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs3740881 | - |
p.Asp632Asn |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2198n54 | CNV | gain | 21841781 |
dgv2199n54 | CNV | loss | 21841781 |
dgv251n67 | CNV | gain | 20364138 |
esv1620466 | CNV | deletion | 17803354 |
esv27072 | CNV | loss | 19812545 |
esv2759871 | CNV | loss | 17122850 |
esv3548519 | CNV | deletion | 23714750 |
esv3579969 | CNV | loss | 25503493 |
nsv1051470 | CNV | gain | 25217958 |
nsv549 | CNV | insertion | 18451855 |
nsv556565 | CNV | loss | 21841781 |
nsv556566 | CNV | loss | 21841781 |
nsv832295 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
exudative vitreoretinopathy 5 |
|
|
alzheimer disease |
|
|
spinocerebellar ataxia 7 |
|
|
refractive error |
|
|
lissencephaly |
|
|