Gene Gene information from NCBI Gene database.
Entrez ID 57185
Gene name NIPA like domain containing 3
Gene symbol NIPAL3
Synonyms (NCBI Gene)
DJ462O23.2NPAL3SLC57A5
Chromosome 1
Chromosome location 1p36.11
miRNA miRNA information provided by mirtarbase database.
681
miRTarBase ID miRNA Experiments Reference
MIRT614654 hsa-miR-6807-5p HITS-CLIP 23824327
MIRT627131 hsa-miR-6843-3p HITS-CLIP 23824327
MIRT627130 hsa-miR-6848-3p HITS-CLIP 23824327
MIRT614653 hsa-miR-8055 HITS-CLIP 23824327
MIRT614652 hsa-miR-129-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183, 33961781
GO:0015095 Function Magnesium ion transmembrane transporter activity IEA
GO:0015693 Process Magnesium ion transport IBA
GO:0015693 Process Magnesium ion transport IEA
GO:0016020 Component Membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620034 25233 ENSG00000001461
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P499
Protein name NIPA-like protein 3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05653 Mg_trans_NIPA 31 326 Magnesium transporter NIPA Family
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Miscellaneous transport and binding events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder Uncertain significance rs768764094 RCV001262790
NIPAL3-related disorder Uncertain significance; Benign; Likely benign rs762832290, rs148391167, rs147661477, rs2294521, rs150020630, rs139905565, rs112615347, rs202117908 RCV003402797
RCV003897295
RCV003911441
RCV003937325
RCV003919443
RCV003959224
RCV003956933
RCV003944699