ACP5 (acid phosphatase 5, tartrate resistant)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 54
Gene name Acid phosphatase 5, tartrate resistant
Gene symbol ACP5
Synonyms (NCBI Gene)
HPAPTRACP5aTRACP5bTRAPTRAcPTrATPase
Chromosome 19
Chromosome location 19p13.2
Summary This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by Re
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT763263 hsa-miR-23a CLIP-seq
MIRT763264 hsa-miR-23b CLIP-seq
MIRT763265 hsa-miR-23c CLIP-seq
MIRT763266 hsa-miR-4643 CLIP-seq
MIRT763267 hsa-miR-4716-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
MITF Activation 11481336;15737031
SPI1 Activation 11481336
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003993 Function Acid phosphatase activity IBA
GO:0003993 Function Acid phosphatase activity IEA
GO:0003993 Function Acid phosphatase activity TAS 8359686
GO:0005764 Component Lysosome IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
171640 124 ENSG00000102575
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13686
Protein name Tartrate-resistant acid phosphatase type 5 (TR-AP) (EC 3.1.3.2) (Tartrate-resistant acid ATPase) (TrATPase) (Type 5 acid phosphatase)
Protein function Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias.
PDB 1WAR , 2BQ8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 26 → 244 Calcineurin-like phosphoesterase Domain
Sequence
Sequence length 325
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Riboflavin metabolism
Metabolic pathways
Lysosome
Osteoclast differentiation
Rheumatoid arthritis 		  Vitamin B2 (riboflavin) metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ACP5-related disorder Pathogenic; Likely pathogenic rs1294990891, rs781050795 RCV004756330
RCV003421931
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloenchondrodysplasia with immune dysregulation Pathogenic; Likely pathogenic rs1973089024, rs1973142593, rs2145092503, rs2145089035, rs1171155255, rs2145091349, rs749753832, rs1294990891, rs2145087756, rs2145087630, rs965741395, rs2145092472, rs2145093044, rs1318417167, rs756448158
View all (17 more)		 RCV001332836
RCV001386586
RCV001388705
RCV001875223
RCV001896863
View all (28 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (12)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (97)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28398694
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 26149452
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30778327
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28087412
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30778327
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 26346816 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoinflammatory disorder Autoinflammatory Disease GENOMICS_ENGLAND_DG 21217752
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease LHGDN 12845688
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 31846063
★★★★★
★☆☆☆☆
Found in Text Mining only