Tbio | Lysosomal acid phosphatase |
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]
Comments
Disease | Target Count | P-value |
---|---|---|
malignant mesothelioma | 3163 | 2.42964241787094E-6 |
ovarian cancer | 8492 | 1.60416858096919E-4 |
lung cancer | 4473 | 0.0148630414631723 |
non primary Sjogren syndrome sicca | 840 | 0.0335114100468075 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
inclusion-cell disease | 15 | 3.399 | 1.7 |
Batten disease | 15 | 3.329 | 1.7 |
Amyotrophic lateral sclerosis type 8 | 9 | 3.107 | 1.6 |
Keratoconus | 49 | 3.044 | 1.5 |
Disease | Target Count |
---|---|
Acid Phosphatase Deficiency | 1 |
Disease | log2 FC | p |
---|---|---|
malignant mesothelioma | -1.300 | 0.000 |
lung cancer | 1.300 | 0.015 |
non primary Sjogren syndrome sicca | 1.100 | 0.034 |
ovarian cancer | 1.300 | 0.000 |
Species | Source |
---|---|
Chimp | OMA EggNOG Inparanoid |
Macaque | OMA EggNOG Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA EggNOG Inparanoid |
Dog | OMA EggNOG Inparanoid |
Horse | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Pig | OMA EggNOG |
Opossum | OMA EggNOG Inparanoid |
Platypus | OMA EggNOG |
Chicken | OMA Inparanoid |
Anole lizard | OMA Inparanoid |
Xenopus | OMA Inparanoid |
PMID | Text |
---|---|
19064571 | Observational study of gene-disease association. (HuGE Navigator) |
18976975 | Knockdown of acid phosphatase 2, lysosomal (ACP2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells |
17357082 | Genome-wide association study of gene-disease association. (HuGE Navigator) |
15503243 | An enzymatically inactive allele of mouse Acp2 causes cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. |
9228031 | LAP-deficient mice exhibit multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. |
MAGKRSGWSRAALLQLLLGVNLVVMPPTRARSLRFVTLLYRHGDRSPVKTYPKDPYQEEEWPQGFGQLTK 1 - 70 EGMLQHWELGQALRQRYHGFLNTSYHRQEVYVRSTDFDRTLMSAEANLAGLFPPNGMQRFNPNISWQPIP 71 - 140 VHTVPITEDRLLKFPLGPCPRYEQLQNETRQTPEYQNESSRNAQFLDMVANETGLTDLTLETVWNVYDTL 141 - 210 FCEQTHGLRLPPWASPQTMQRLSRLKDFSFRFLFGIYQQAEKARLQGGVLLAQIRKNLTLMATTSQLPKL 211 - 280 LVYSAHDTTLVALQMALDVYNGEQAPYASCHIFELYQEDSGNFSVEMYFRNESDKAPWPLSLPGCPHRCP 281 - 350 LQDFLRLTEPVVPKDWQQECQLASGPADTEVIVALAVCGSILFLLIVLLLTVLFRMQAQPPGYRHVADGE 351 - 420 DHA 421 - 423 //
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---|---|---|
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17357082 | 2007 | Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. |
16554811 | 2006 | Human chromosome 11 DNA sequence and analysis including novel gene identification. |
16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
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