Gene Gene information from NCBI Gene database.
Entrez ID 79815
Gene name NIPA like domain containing 2
Gene symbol NIPAL2
Synonyms (NCBI Gene)
NPAL2SLC57A4
Chromosome 8
Chromosome location 8q22.2
miRNA miRNA information provided by mirtarbase database.
216
miRTarBase ID miRNA Experiments Reference
MIRT718043 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT718042 hsa-miR-23a-5p HITS-CLIP 19536157
MIRT718041 hsa-miR-23b-5p HITS-CLIP 19536157
MIRT718040 hsa-miR-152-5p HITS-CLIP 19536157
MIRT718039 hsa-miR-485-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
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
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H841
Protein name NIPA-like protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05653 Mg_trans_NIPA 45 332 Magnesium transporter NIPA Family
Sequence
Sequence length 383
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UROLITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations