| 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 //
| PMID | Year | Title |
|---|---|---|
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 23533145 | 2013 | In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. |
| 23376485 | 2013 | Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. |
| 19946888 | 2010 | Defining the membrane proteome of NK cells. |
| 19159218 | 2009 | Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. |
| 19064571 | 2008 | Polymorphisms in mitochondrial genes and prostate cancer risk. |
| 19056867 | 2009 | Large-scale proteomics and phosphoproteomics of urinary exosomes. |
| 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. |
| More... |
