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)
Ortholog nameID Species
 Acp4ENSMUSG00000012777Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACP2 / P11117 / acid phosphatase 2, lysosomalENSG0000013457542
ACPP / P15309 / acid phosphatase, prostateENSG0000001425739
ACP6 / Q9NPH0 / acid phosphatase 6, lysophosphatidicENSG0000016283624


Protein motifs (from Interpro)
Interpro ID Name
 IPR000560  Histidine phosphatase superfamily, clade-2
 IPR029033  Histidine phosphatase superfamily
 IPR033379  Histidine acid phosphatase active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0042476 odontogenesis IMP
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003993 acid phosphatase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000670 Carious teeth 
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 HP:0011094 Overbite "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr