ACP2
acid phosphatase 2, lysosomal
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]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1050244 | 11:47,260,477 | C/T | downstream gene variant | benign |
| rs2228401 | 11:47,261,691 | G/A | — | benign |
| rs1953832383 | 11:47,261,710 | G/A | — | uncertain significance |
| rs2540435676 | 11:47,261,718 | C/G | — | uncertain significance |
| rs376131793 | 11:47,261,720 | G/T | — | uncertain significance |
| rs145420520 | 11:47,261,762 | G/A | — | likely benign |
| rs4752972 | 11:47,263,060 | C/G | — | — |
| rs560483703 | 11:47,264,055 | G/A | — | — |
| rs145123059 | 11:47,264,270 | T/C | — | benign |
| rs564407962 | 11:47,264,276 | G/A | — | uncertain significance |
| rs1445865386 | 11:47,264,297 | A/C | — | uncertain significance |
| rs372169625 | 11:47,264,345 | C/T | — | likely benign |
| rs146415412 | 11:47,264,405 | G/A | — | uncertain significance |
| rs754392893 | 11:47,264,418 | C/T | — | uncertain significance |
| rs111841808 | 11:47,264,679 | C/T | — | benign |
| rs759897865 | 11:47,264,830 | G/A | — | uncertain significance |
| rs111271272 | 11:47,264,892 | G/A | — | likely benign |
| rs7109203 | 11:47,265,543 | T/C | upstream gene variant | — |
| rs778929073 | 11:47,266,313 | G/T | — | uncertain significance |
| rs757302233 | 11:47,266,315 | T/C | — | uncertain significance |
| rs141018539 | 11:47,266,336 | C/T | — | uncertain significance |
| rs138968159 | 11:47,266,402 | C/T | — | likely benign |
| rs370355905 | 11:47,266,410 | G/T | — | uncertain significance |
| rs75393320 | 11:47,266,471 | G/C | upstream gene variant | — |
| rs981895039 | 11:47,267,042 | C/T | — | uncertain significance |
| rs1954034473 | 11:47,267,052 | C/G | — | uncertain significance |
| rs1255164989 | 11:47,267,057 | G/A | — | uncertain significance |
| rs10838677 | 11:47,267,079 | C/T | — | benign |
| rs942975772 | 11:47,267,099 | A/G | — | uncertain significance |
| rs550354036 | 11:47,267,110 | G/A | — | uncertain significance |
| rs375804831 | 11:47,267,152 | C/T | — | likely benign |
| rs2540453931 | 11:47,267,385 | C/A | — | uncertain significance |
| rs7129661 | 11:47,268,550 | T/G | upstream gene variant | — |
| rs1336114695 | 11:47,269,195 | T/G | — | uncertain significance |
| rs372895853 | 11:47,269,207 | A/C | — | benign |
| rs1394286498 | 11:47,269,223 | C/T | — | uncertain significance |
| rs777549464 | 11:47,270,231 | G/C | — | uncertain significance |
| rs2167079 | 11:47,270,255 | C/T | missense variant | benign |
| rs766522083 | 11:47,270,309 | G/T | — | uncertain significance |
| rs41275182 | 11:47,270,313 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.