ACP2

GENE INFORMATION

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Gene name

ACP2

Synonyms

Description

Acid phosphatase 2, lysosomal (HGNC Symbol)

Entrez gene summary

This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Chromosome

11

Cytoband

p11.2

Chromosome location (bp)

47239302 - 47248906

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134575 (version 78.38)

Entrez gene

53

UniProt

P11117 (UniProt - Evidence at protein level)

neXtProt

NX_P11117

Antibodypedia

ACP2 antibodies
 

PROTEIN VIEW

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ACP2-001
 
ACP2-003
 
ACP2-004
 
ACP2-005
 
ACP2-006
 
ACP2-009
 
ACP2-010
 
ACP2-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACP2-001 ENSP00000256997
ENST00000256997
P11117
Show all »
Show » Show » 423 48.3 Yes 1
ACP2-003 ENSP00000434205
ENST00000530453
B7Z6U3
Show all »
Show » Show » 162 18.7 Yes 0
ACP2-004 ENSP00000432205
ENST00000527256
B7Z7D2
Show all »
Show » Show » 391 44.5 Yes 1
ACP2-005 ENSP00000432439
ENST00000533929
E9PQY3
Show all »
Show » Show » 395 45.3 No 1
ACP2-006 ENSP00000436487
ENST00000529663
E9PP23
Show all »
Show » Show » 305 35.2 Yes 0
ACP2-009 ENSP00000436828
ENST00000529788
G5EA28
Show all »
Show » Show » 122 14 Yes 0
ACP2-010 ENSP00000414911
ENST00000444355
P11117
Show all »
Show » Show » 160 18.4 Yes 0
ACP2-012 ENSP00000436658
ENST00000529444
E9PHY0
Show all »
Show » Show » 360 41 Yes 1