ACP4 (acid phosphatase 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 93650
Gene name Acid phosphatase 4
Gene symbol ACP4
Synonyms (NCBI Gene)
ACPTAI1J
Chromosome 19
Chromosome location 19q13.33
Summary Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0003993 Function Acid phosphatase activity IBA
GO:0003993 Function Acid phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IDA 15219672
GO:0005764 Component Lysosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606362 14376 ENSG00000142513
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZG2
Protein name Testicular acid phosphatase (EC 3.1.3.2) (Acid phosphatase 4)
Protein function May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00328 His_Phos_2 31 → 321 Histidine phosphatase superfamily (branch 2) Family
Tissue specificity TISSUE SPECIFICITY: Expressed mainly in the testis. Also expressed in the brain where they are enriched at the postsynaptic sites. Expressed at lower levels in the trachea, prostate, bone marrow, spinal cord, colon, fetal brain, heart, thymus, fetal liver
Sequence
Sequence length 426
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
33
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amelogenesis imperfecta, type 1J Likely pathogenic; Pathogenic rs1212633515, rs756274541, rs202073531, rs1057519277, rs767907487, rs779823931, rs1085307111, rs546603773 RCV003154840
RCV003154841
RCV000415543
RCV000415588
RCV000415614
RCV000415549
RCV000489871
RCV000489568
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACP4-related disorder Likely benign; Benign rs144745203, rs750637211, rs2162784, rs55716643, rs777100668, rs141072588, rs150477417, rs537290653, rs199516428, rs55735528, rs200405470, rs374772444, rs377747108 RCV003929777
RCV003974601
RCV003979591
RCV003979368
RCV003939828
RCV003959353
RCV003959361
RCV003934625
RCV003956784
RCV003981930
RCV003961886
RCV003966792
RCV003910540
Acute myeloid leukemia Benign rs2162784 RCV005937095
Amelogenesis imperfecta Uncertain significance rs1190557090, rs2123287930, rs1371134137, rs763573828 RCV001645017
RCV001645018
RCV001645019
RCV001643139
Amelogenesis imperfecta type 1 Uncertain significance rs763573828 RCV005355706
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 27843125, 34036831
Amelogenesis imperfecta local hypoplastic form Associate 27843125, 28513613, 34036831