NIPA2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NIPA2 (HGNC:17044) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NIPA magnesium transporter 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SLC57A2
- %HI
- 33.48(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.62(Read more about gnomAD pLI score)
- LOEUF
- 0.69(Read more about gnomAD LOEUF score)
- Cytoband
- 15q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:23004684-23034402 NCBI Ensembl UCSC GRCh38/hg38: chr15:22838666-22868384 NCBI Ensembl UCSC - MANE Select Transcript
- NM_030922.7 ENST00000337451.8 (Read more about MANE Select)
- Function
- Acts as a selective Mg(2+) transporter. {ECO:0000269|PubMed:25347071}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-29893
ClinGen Curation ID:
CCID:007555
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Related Links:
Last Evaluated:
04/04/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
PMID:22367439 Jiang et al. (2012) sequenced NIPA2 in a Chinese population with childhood absence epilepsy (CAE). They found 3 mutations (2 missense and 1 insertion [p.N334_E335 insD]) in 3 patients. All mutations were paternally inherited, but were not found in 700 normal controls.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)