Property Summary

NCBI Gene PubMed Count 13
Grant Count 4
R01 Count 4
Funding $374,343.66
PubMed Score 7.65
PubTator Score 10.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Multiple myeloma 1.744 0.000
intraductal papillary-mucinous neoplasm ... 1.500 0.003
Breast cancer 2.600 0.029
ovarian cancer 1.800 0.000

Gene RIF (5)

PMID Text
25347071 This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE.
22367439 mutations in NIPA2 gene were associated with childhood absence epilepsy (CAE), which indicated that the haploinsufficiency of NIPA2 might be a candidate mechanism underlying the IGE/CAE phenotypes caused by 15q11.2 microdeletions or rare mutations in NIPA2
16982806 quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales
15067324 Altered mRNA expression is associated with prostate cancer recurrence.
14508708 located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes

AA Sequence

MSQGRGKYDFYIGLGLAMSSSIFIGGSFILKKKGLLRLARKGSMRAGQGGHAYLKEWLWWAGLLSMGAGE      1 - 70
VANFAAYAFAPATLVTPLGALSVLVSAILSSYFLNERLNLHGKIGCLLSILGSTVMVIHAPKEEEIETLN     71 - 140
EMSHKLGDPGFVVFATLVVIVALILIFVVGPRHGQTNILVYITICSVIGAFSVSCVKGLGIAIKELFAGK    141 - 210
PVLRHPLAWILLLSLIVCVSTQINYLNRALDIFNTSIVTPIYYVFFTTSVLTCSAILFKEWQDMPVDDVI    211 - 280
GTLSGFFTIIVGIFLLHAFKDVSFSLASLPVSFRKDEKAMNGNLSNMYEVLNNNEESLTCGIEQHTGENV    281 - 350
SRRNGNLTAF                                                                351 - 360
//

Text Mined References (14)

PMID Year Title
25347071 2014 Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.
22367439 2012 NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
19940067 2010 Molecular identification of ancient and modern mammalian magnesium transporters.
19328872 Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
16982806 2006 Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15317751 2004 Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
15067324 2004 Gene expression profiling predicts clinical outcome of prostate cancer.
More...