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The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
ACP2 (Acid Phosphatase 2, Lysosomal) is a Protein Coding gene. Diseases associated with ACP2 include Acid Phosphatase Deficiency and Phosphatase, Acid, Of Tissues. Among its related pathways are Lysosome and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include acid phosphatase activity. An important paralog of this gene is ACP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003993 | acid phosphatase activity | TAS,IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IDA | 3160696 |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | TAS,IEA | -- |
GO:0043202 | lysosomal lumen | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lysosome |
-
|
|
2 | Metabolism | ||
3 | Riboflavin metabolism | ||
4 | ATP/ITP metabolism |
ATP/ITP metabolism
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0007040 | lysosome organization | IEA | -- |
GO:0016311 | dephosphorylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1-Hexanol |
|
111-27-3 |
|
|||
1-Pentanol |
|
71-41-0 |
|
|||
Isobutanol |
|
78-83-1 |
|
|||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Acp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Acp2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ACP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ACP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ACP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acp2 30 |
|
||
Str.3282 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | acp2 30 |
|
||
ACP2 31 |
|
OneToOne | |||
Dr.25243 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Acph-1 30 31 32 |
|
ManyToMany | |
CG9449 31 32 |
|
ManyToMany | |||
CG9451 31 32 |
|
ManyToMany | |||
CG6656 31 32 |
|
ManyToMany | |||
CG9452 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002387 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pho-5 30 31 |
|
ManyToMany | |
R13H4.3 32 |
|
|
|||
T13B5.3 32 |
|
|
|||
F52E1.8 32 |
|
|
|||
T21B6.2 32 |
|
|
|||
B0361.7 32 |
|
|
|||
pho-14 31 |
|
ManyToMany | |||
pho-12 31 |
|
ManyToMany | |||
pho-10 31 |
|
ManyToMany | |||
acp-5 31 |
|
ManyToMany | |||
pho-4 31 |
|
ManyToMany | |||
pho-1 31 |
|
ManyToMany | |||
pho-13 31 |
|
ManyToMany | |||
F26C11.1 31 |
|
ManyToMany | |||
pho-11 31 |
|
ManyToMany | |||
C27A2.12 31 |
|
ManyToMany | |||
acp-1 31 |
|
ManyToMany | |||
acp-3 31 |
|
ManyToMany | |||
acp-4 31 |
|
ManyToMany | |||
acp-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
776606 | Benign: not provided | 47,240,140(-) | G/A | SYNONYMOUS_VARIANT | |
776607 | Benign: not provided | 47,243,128(-) | C/T | INTRON_VARIANT | |
780968 | Benign: not provided | 47,242,719(-) | T/C | INTRON_VARIANT | |
786418 | Likely Benign: not provided | 47,248,762(-) | G/A | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
788071 | Benign: not provided | 47,240,211(-) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
acid phosphatase deficiency |
|
|
phosphatase, acid, of tissues |
|
|
polyp of corpus uteri |
|
|
rete ovarii benign neoplasm |
|
|
rete ovarii adenoma |
|
|