• 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
0.92(Read more about gnomAD pLI score)
LOEUF
0.38(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
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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)