NIPA2

Protein-coding gene in humans
NIPA2
Identifiers
AliasesNIPA2, non imprinted in Prader-Willi/Angelman syndrome 2, SLC57A2, NIPA magnesium transporter 2
External IDsOMIM: 608146; MGI: 1913918; HomoloGene: 11368; GeneCards: NIPA2; OMA:NIPA2 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for NIPA2
Genomic location for NIPA2
Band15q11.2Start22,838,644 bp[1]
End22,869,362 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for NIPA2
Genomic location for NIPA2
Band7|7 B5Start55,581,035 bp[2]
End55,612,224 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pancreatic ductal cell

  • mucosa of colon

  • mucosa of sigmoid colon

  • secondary oocyte

  • mucosa of ileum

  • nasal epithelium

  • rectum

  • right ventricle

  • islet of Langerhans

  • duodenum
Top expressed in
  • epithelium of small intestine

  • submandibular gland

  • gastrula

  • ileum

  • left colon

  • transitional epithelium of urinary bladder

  • interventricular septum

  • atrioventricular valve

  • jejunum

  • epithelium of stomach
More reference expression data
BioGPS


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
SpeciesHumanMouse
Entrez

81614

93790

Ensembl

ENSG00000140157

ENSMUSG00000030452

UniProt

Q8N8Q9

Q9JJC8

RefSeq (mRNA)
NM_001008860
NM_001008892
NM_001008894
NM_001184888
NM_001184889

NM_030922

NM_001256130
NM_001256131
NM_001256132
NM_001256133
NM_023647

RefSeq (protein)
NP_001008860
NP_001008892
NP_001008894
NP_001171817
NP_001171818

NP_112184

NP_001243059
NP_001243060
NP_001243061
NP_001243062
NP_076136

Location (UCSC)Chr 15: 22.84 – 22.87 MbChr 7: 55.58 – 55.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000140157 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  6. ^ "Entrez Gene: NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2".

Further reading

  • 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.


  • v
  • t
  • e