NIPA2 NIPA magnesium transporter 2
Gene ID: 81614, updated on 27-Aug-2024Gene type: protein coding
Also known as: SLC57A2
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- Go to complete Gene record for NIPA2
- Go to Variation Viewer for NIPA2 variants
Summary
This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-04) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-04-04) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q11.2
- Sequence:
- Chromosome: 15; NC_000015.10 (22838666..22868384)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NIPA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- NIPA2 @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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