NIPA2

NIPA2
Identifiers
Aliases	NIPA2 , non imprinted in Prader-Willi/Angelman syndrome 2, SLC57A2, NIPA magnesium transporter 2
External IDs	OMIM: 608146 MGI: 1913918 HomoloGene: 11368 GeneCards: NIPA2
Gene location (Human)
Chr.	Chromosome 15 (human)
End	22,869,362 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	55,612,224 bp
RNA expression pattern
	Top expressed in
	pancreatic ductal cell; ; secondary oocyte; ; rectum; ; right ventricle; ; islet of Langerhans; ; duodenum; ; jejunal mucosa; ; monocyte; ; visceral pleura; ; palpebral conjunctiva;
	Top expressed in
	submandibular gland; ; ileum; ; left colon; ; interventricular septum; ; atrioventricular valve; ; jejunum; ; epithelium of stomach; ; cumulus cell; ; vastus lateralis muscle; ; endocardial cushion;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	magnesium ion transmembrane transporter activity ;
Cellular component	integral component of membrane ; endosome ; plasma membrane ; early endosome ; membrane ;
Biological process	magnesium ion transmembrane transport ; ion transport ; magnesium ion transport ;
	Sources:Amigo / QuickGO
Orthologs
	81614
	93790
	ENSG00000140157
	ENSMUSG00000030452
	Q8N8Q9
	Q9JJC8
NM_001008860 ; NM_001008892 ; NM_001008894 ; NM_001184888 ; NM_001184889 ;
	NM_030922
	NM_001256130 ; NM_001256131 ; NM_001256132 ; NM_001256133 ; NM_023647
NP_001008860 ; NP_001008892 ; NP_001008894 ; NP_001171817 ; NP_001171818 ;
	NP_112184
	NP_001243059 ; NP_001243060 ; NP_001243061 ; NP_001243062 ; NP_076136
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 23, 2023

Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 is a protein that in humans is encoded by the NIPA2 gene.^[5]^[6]

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Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000140157 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030452 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD (Sep 2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons". Am J Hum Genet. 73 (4): 898–925. doi:10.1086/378816. PMC 1180611 . PMID 14508708.
↑ "Entrez Gene: NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2".

Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome". Pediatrics. 118 (4): e1276–e1283. doi:10.1542/peds.2006-0424. PMC 5453799 . PMID 16982806.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Lefèvre C, Bouadjar B, Karaduman A, et al. (2005). "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis". Hum. Mol. Genet. 13 (20): 2473–2482. doi: 10.1093/hmg/ddh263 . PMID 15317751.
Glinsky GV, Glinskii AB, Stephenson AJ, et al. (2004). "Gene expression profiling predicts clinical outcome of prostate cancer". J. Clin. Invest. 113 (6): 913–923. doi:10.1172/JCI20032. PMC 362118 . PMID 15067324.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi: 10.1038/ng1285 . PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–113. doi:10.1006/abio.1996.0138. PMID 8619474.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000140157 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030452 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid14508708-5] Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD (Sep 2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons". Am J Hum Genet. 73 (4): 898–925. doi:10.1086/378816. PMC 1180611 . PMID 14508708.

[entrez-6] "Entrez Gene: NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2".

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NIPA2

Related Research Articles

References

Further reading