• Gene id: 81614

Gene Summary

• Gene Symbol: NIPA2   Gene   UCSC   Ensembl
• Aliases: SLC57A2
• Gene name: NIPA magnesium transporter 2
• Alternate names: magnesium transporter NIPA2, non imprinted in Prader-Willi/Angelman syndrome 2, non-imprinted in Prader-Willi/Angelman syndrome region protein 2,
• Gene location: 15q11.2 (22838640: 22868383)     Exons: 11     NC_000015.10
• Gene summary(Entrez): This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene a
• OMIM: 608146

Protein Summary

• Protein general information: Q8N8Q9  
  • Name: Magnesium transporter NIPA2 (Non imprinted in Prader Willi/Angelman syndrome region protein 2)
  • Length: 360  
  • Mass: 39185
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSQGRGKYDFYIGLGLAMSSSIFIGGSFILKKKGLLRLARKGSMRAGQGGHAYLKEWLWWAGLLSMGAGEVANFA
  AYAFAPATLVTPLGALSVLVSAILSSYFLNERLNLHGKIGCLLSILGSTVMVIHAPKEEEIETLNEMSHKLGDPG
  FVVFATLVVIVALILIFVVGPRHGQTNILVYITICSVIGAFSVSCVKGLGIAIKELFAGKPVLRHPLAWILLLSL
  IVCVSTQINYLNRALDIFNTSIVTPIYYVFFTTSVLTCSAILFKEWQDMPVDDVIGTLSGFFTIIVGIFLLHAFK
  DVSFSLASLPVSFRKDEKAMNGNLSNMYEVLNNNEESLTCGIEQHTGENVSRRNGNLTAF

• Structural information:
  • Interpro: IPR008521  
  • STRING: ENSP00000337618
• Other Databases: GeneCards:  NIPA2  Malacards:  NIPA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015693	magnesium ion transport	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0015693	magnesium ion transport	IEA	biological process
GO:0015095	magnesium ion transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015693	magnesium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1903830	magnesium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq