ACP2 - acid phosphatase 2, lysosomal Gene

Homo sapiens

Also known as LAP

Gene ID: 53 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Cellular Component GO Annotation	Evidence	Reference	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

0
100
200
300
400
423 a.a.

Protein Preferred Names

Protein Names

lysosomal acid phosphatase

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00187	ACP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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