ACP2 - acid phosphatase 2, lysosomal Gene

Also Known as LAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 53

About ACP2

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,239,302-47,248,814 (from NCBI)

This gene has 16 transcripts (splice variants), 235 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in duodenum (RPKM 19.4), placenta (RPKM 17.1) and 25 other tissues.

Summary

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 Products (6)

mRNA Protein Name
NM_001302489.2 NP_001289418.1 lysosomal acid phosphatase isoform 3
NM_001302490.2 NP_001289419.1 lysosomal acid phosphatase isoform 4 precursor
NM_001302491.2 NP_001289420.1 lysosomal acid phosphatase isoform 5 precursor
NM_001302492.2 NP_001289421.1 lysosomal acid phosphatase isoform 6
NM_001357016.2 NP_001343945.1 lysosomal acid phosphatase isoform 1x precursor
NM_001610.4 NP_001601.1 lysosomal acid phosphatase isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Cellular Component GO Annotation Evidence References Source
located in lysosome IDA
IDA: Inferred from direct assay
3160696 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACP2 Protein Structure

His_Phos_2

His_Phos_2: Histidine phosphatase superfamily (branch 2) (33 - 329)

  • 0
  • 100
  • 200
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  • 400
  • 423 a.a.
Protein Preferred Names Protein Names

lysosomal acid phosphatase

ACP2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810208 ACP2 Antibody (YA9552) WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA human

Related Diseases

Diseases Alias
Acid Phosphatase Deficiency
  • Lysosomal Acid Phosphatase Deficiency

Phosphatase, Acid, Of Tissues
  • Lysosomal Acid Phosphatase

  • Acp3--Alpha Polypeptide

Rete Ovarii Benign Neoplasm
Rete Ovarii Adenoma
  • Adenoma Of Rete Ovarii

Polyp Of Corpus Uteri
  • Endometrial/Uterine Polyp

  • Polyp Of Endometrium

  • Polyp Of The Uterus

  • Polyp, Uterus

Keratoconus
  • Kc

  • Conical Cornea

  • Noninflammatory Corneal Thining

  • Bulging Cornea

  • Cornea Conical

  • Acquired Conus Of Cornea

Salpingitis Isthmica Nodosa
Tracheal Lymphoma
  • Lymphoma Of The Trachea

  • Lymphoma Of Trachea

Astigmatism
Frontonasal Dysplasia 2
  • FND2

  • Frontonasal Dysplasia With Alopecia And Genital Anomaly

  • Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome

  • Alx4-Related Fndag

  • Craniofrontonasal Dysplasia With Alopecia And Hypogonadism

  • Frontonasal Dysplasia Type 2

  • Frontonasal Dysplasia With Alopecia And Genital Abnomality

  • Doid:0081046

  • Dysplasia, Frontonasal, Type 2

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ACP2 VGNC VGNC:51839
Bos taurus ACP2 VGNC VGNC:52601
Rattus norvegicus ACP2 RGD RGD:2021
Macaca mulatta ACP2 VGNC VGNC:69383
Felis catus ACP2 VGNC VGNC:59525
Mus musculus ACP2 MGD MGI:87882
Others ACP2 NCBI