Gene Gene information from NCBI Gene database.
Entrez ID 758
Gene name Metallophosphoesterase domain containing 1
Gene symbol MPPED1
Synonyms (NCBI Gene)
239ABC22orf1FAM1A
Chromosome 22
Chromosome location 22q13.2
miRNA miRNA information provided by mirtarbase database.
97
miRTarBase ID miRNA Experiments Reference
MIRT716611 hsa-miR-939-3p HITS-CLIP 19536157
MIRT716610 hsa-miR-6852-5p HITS-CLIP 19536157
MIRT716609 hsa-miR-6742-3p HITS-CLIP 19536157
MIRT716608 hsa-miR-4638-5p HITS-CLIP 19536157
MIRT716607 hsa-miR-378g HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602112 1306 ENSG00000186732
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15442
Protein name Metallophosphoesterase domain-containing protein 1 (EC 3.1.-.-) (Adult brain protein 239) (239AB)
Protein function May have metallophosphoesterase activity (in vitro).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 90 288 Calcineurin-like phosphoesterase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in adult brain.
Sequence
Sequence length 326
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic Periodontitis Periodontitis BEFREE 30409304
★☆☆☆☆
Found in Text Mining only