ENSG00000142513
Homo sapiens | |
Features
Gene ID: | ENSG00000142513 | | | Biological name : | ACP4 | | | Synonyms : | acid phosphatase 4 / ACP4 / Q9BZG2 | | | Possible biological names infered from orthology : | | | | Species: | Homo sapiens | | | Chr. number: | 19 | Strand: | 1 | Band: | q13.33 | Gene start: | 50790415 | Gene end: | 50795224 | | | Corresponding Affymetrix probe sets: | 241715_x_at (Human Genome U133 Plus 2.0 Array) | | | Cross references: | Ensembl peptide - ENSP00000270593 NCBI entrez gene - 93650
See in Manteia.
OMIM - 606362 RefSeq - NM_033068 RefSeq Peptide - NP_149059 swissprot - Q9BZG2 Ensembl - ENSG00000142513
| | | Related genetic diseases (OMIM): | 617297 - Amelogenesis imperfecta, type IJ, 617297 | 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] |
Show
| HP:0000670 | Carious teeth | |
Show
| HP:0011094 | Overbite | "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier] |
Show
|
Interacting proteins (from Reactome) No match
0 s.
|