Gene Gene information from NCBI Gene database.
Entrez ID 250
Gene name Alkaline phosphatase, placental
Gene symbol ALPP
Synonyms (NCBI Gene)
ALPALPIIAPPALPPLAPPLAP-1
Chromosome 2
Chromosome location 2q37.1
Summary The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodime
miRNA miRNA information provided by mirtarbase database.
105
miRTarBase ID miRNA Experiments Reference
MIRT779126 hsa-miR-1193 CLIP-seq
MIRT779127 hsa-miR-1207-5p CLIP-seq
MIRT779128 hsa-miR-1224-3p CLIP-seq
MIRT779129 hsa-miR-136 CLIP-seq
MIRT779130 hsa-miR-148a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding ISS
GO:0004035 Function Alkaline phosphatase activity IBA
GO:0004035 Function Alkaline phosphatase activity IDA 1939159, 2017684, 2133555
GO:0004035 Function Alkaline phosphatase activity IEA
GO:0004035 Function Alkaline phosphatase activity NAS 3042787
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171800 439 ENSG00000163283
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05187
Protein name Alkaline phosphatase, placental type (EC 3.1.3.1) (Alkaline phosphatase Regan isozyme) (Placental alkaline phosphatase 1) (PLAP-1)
Protein function Alkaline phosphatase that can hydrolyze various phosphate compounds.
PDB 1EW2 , 1ZEB , 1ZED , 1ZEF , 2GLQ , 3MK0 , 3MK1 , 3MK2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00245 Alk_phosphatase 55 490 Alkaline phosphatase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in placenta (at protein level). {ECO:0000269|PubMed:20693656}.
Sequence
Sequence length 535
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thiamine metabolism
Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors
  Intra-Golgi traffic
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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
ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acidemia isovaleric Associate 20723612
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Associate 34363325
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 34363325
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Associate 19352053
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Stimulate 9883800
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Associate 35855023
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Associate 35951069
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Stimulate 37662902
★☆☆☆☆
Found in Text Mining only
Asthma Associate 30737985
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Associate 29973151
★☆☆☆☆
Found in Text Mining only