ACP2 (acid phosphatase 2, lysosomal)

2003-11-01  

Identity

HGNC
ACP2
LOCATION
11p11.2
LOCUSID
53
ALIAS
LAP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 53
MIM: 171650
HGNC: 123
Ensembl: ENSG00000134575

Variants:

dbSNP: 53
ClinVar: 53
TCGA: ENSG00000134575
COSMIC: ACP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134575ENST00000256997P11117
ENSG00000134575ENST00000527256B7Z7D2
ENSG00000134575ENST00000529444E9PHY0
ENSG00000134575ENST00000533929E9PQY3
ENSG00000134575ENST00000672787B7Z6U3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Riboflavin metabolismKEGGko00740
Riboflavin metabolismKEGGhsa00740
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100

References

Pubmed IDYearTitleCitations
333819212021Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.3
333819212021Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.3
294227692018A genome-wide association study of corneal astigmatism: The CREAM Consortium.9
294227692018A genome-wide association study of corneal astigmatism: The CREAM Consortium.9
280763322017Lysosomal acid phosphatase 2 is an unfavorable prognostic factor but is associated with better survival in stage II colorectal cancer patients receiving chemotherapy.1
280763322017Lysosomal acid phosphatase 2 is an unfavorable prognostic factor but is associated with better survival in stage II colorectal cancer patients receiving chemotherapy.1
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22
173570822007Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.29
173570822007Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.29
155032432004Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.21
155032432004Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.21
92280311997Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system.20
92280311997Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system.20

Citation

Dessen P

ACP2 (acid phosphatase 2, lysosomal)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/554