ENSG00000134575
Homo sapiens | |
Features
| Gene ID: | ENSG00000134575 | | | | | Biological name : | ACP2 | | | | | Synonyms : | acid phosphatase 2, lysosomal / ACP2 / P11117 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | -1 | | Band: | p11.2 | | Gene start: | 47239302 | | Gene end: | 47248906 | | | | | Corresponding Affymetrix probe sets: | 202767_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000432205
Ensembl peptide - ENSP00000256997
Ensembl peptide - ENSP00000436658
Ensembl peptide - ENSP00000436487
Ensembl peptide - ENSP00000435261
Ensembl peptide - ENSP00000434205
Ensembl peptide - ENSP00000432466
Ensembl peptide - ENSP00000432439
NCBI entrez gene - 53
See in Manteia.
OMIM - 171650
RefSeq - NM_001610
RefSeq - NM_001302489
RefSeq - NM_001302490
RefSeq - NM_001302491
RefSeq - NM_001302492
RefSeq - NM_001357016
RefSeq Peptide - NP_001601
RefSeq Peptide - NP_001289418
RefSeq Peptide - NP_001289419
RefSeq Peptide - NP_001289420
RefSeq Peptide - NP_001289421
RefSeq Peptide - NP_001343945
swissprot - P11117
swissprot - E9PQW9
swissprot - E9PP23
swissprot - E9PKW9
swissprot - E9PHY0
swissprot - B7Z7D2
swissprot - B7Z6U3
swissprot - E9PQY3
Ensembl - ENSG00000134575
| | | | | Related genetic diseases (OMIM): | 200950 - ?Lysosomal acid phosphatase deficiency, 200950 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000560 | Histidine phosphatase superfamily, clade-2 | | IPR029033 | Histidine phosphatase superfamily | | IPR033379 | Histidine acid phosphatase active site |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| | HP:0002013 | Vomiting | |
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| | HP:0002179 | Opisthotonus | |
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Interacting proteins (from Reactome)
No match
0 s.
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