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    Nipa2 non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) [ Mus musculus (house mouse) ]

    Gene ID: 93790, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Nipa2provided by MGI
    Official Full Name
    non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human)provided by MGI
    Primary source
    MGI:MGI:1913918
    See related
    Ensembl:ENSMUSG00000030452 AllianceGenome:MGI:1913918
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2600017P10Rik; 3830408P04Rik
    Summary
    Predicted to enable magnesium ion transmembrane transporter activity. Involved in magnesium ion transport. Located in early endosome and plasma membrane. Orthologous to human NIPA2 (NIPA magnesium transporter 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 13.6), bladder adult (RPKM 9.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Nipa2 in Genome Data Viewer
    Location:
    7 B5; 7 33.42 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (55581014..55612241, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (55931266..55962493, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene tubulin, gamma complex component 5 Neighboring gene STARR-seq mESC enhancer starr_18956 Neighboring gene STARR-positive B cell enhancer mm9_chr7:63113113-63113414 Neighboring gene cytoplasmic FMR1 interacting protein 1 Neighboring gene STARR-seq mESC enhancer starr_18959 Neighboring gene peroxiredoxin 3 pseudogene Neighboring gene RIKEN cDNA A230056P14 gene Neighboring gene STARR-positive B cell enhancer mm9_chr7:63223630-63223930 Neighboring gene non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) Neighboring gene ribosomal protein S12-like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. NIPA2 regulates osteoblast function by modulating mitophagy in type 2 diabetes osteoporosis. Zhao W, et al. Sci Rep, 2020 Feb 20. PMID 32080264, Free PMC Article
    2. 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. Chai JH, et al. Am J Hum Genet, 2003 Oct. PMID 14508708, Free PMC Article
    3. Functional characterization of NIPA2, a selective Mg2+ transporter. Goytain A, et al. Am J Physiol Cell Physiol, 2008 Oct. PMID 18667602
    4. Protein-protein interaction panel using mouse full-length cDNAs. Suzuki H, et al. Genome Res, 2001 Oct. PMID 11591653, Free PMC Article
    5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NIPA2 regulates osteoblast function by modulating mitophagy in type 2 diabetes osteoporosis.
      Title: NIPA2 regulates osteoblast function by modulating mitophagy in type 2 diabetes osteoporosis.
    2. The isolation and characterization of Nipa2 in mouse distal convoluted tubule cells are reported.
      Title: Functional characterization of NIPA2, a selective Mg2+ transporter.
    3. indentification on mouse chromosome 7C
      Title: 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables magnesium ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in magnesium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in magnesium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in magnesium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in magnesium ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    magnesium transporter NIPA2
    Names
    non-imprinted in Prader-Willi/Angelman syndrome region protein 2 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256130.1 → NP_001243059.1  magnesium transporter NIPA2 isoform 1

      See identical proteins and their annotated locations for NP_001243059.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AB041581, AI119710, AK041427, BK001121, BY144304
      Consensus CDS
      CCDS21316.1
      UniProtKB/Swiss-Prot
      Q3U3I0, Q9JJC8
      UniProtKB/TrEMBL
      Q9D0N5
      Related
      ENSMUSP00000032635.8, ENSMUST00000032635.14
      Conserved Domains (1) summary
      pfam05653
      Location:8 → 302
      Mg_trans_NIPA; Magnesium transporter NIPA

    2. NM_001256131.1 → NP_001243060.1  magnesium transporter NIPA2 isoform 1

      See identical proteins and their annotated locations for NP_001243060.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AI119710, AK028734, AK041427, BK001121, BY144304
      Consensus CDS
      CCDS21316.1
      UniProtKB/Swiss-Prot
      Q3U3I0, Q9JJC8
      UniProtKB/TrEMBL
      Q9D0N5
      Related
      ENSMUSP00000113727.2, ENSMUST00000117812.8
      Conserved Domains (1) summary
      pfam05653
      Location:8 → 302
      Mg_trans_NIPA; Magnesium transporter NIPA

    3. NM_001256132.1 → NP_001243061.1  magnesium transporter NIPA2 isoform 1

      See identical proteins and their annotated locations for NP_001243061.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AI119710, AK008106, AK041427, BK001121
      Consensus CDS
      CCDS21316.1
      UniProtKB/Swiss-Prot
      Q3U3I0, Q9JJC8
      UniProtKB/TrEMBL
      Q9D0N5
      Conserved Domains (1) summary
      pfam05653
      Location:8 → 302
      Mg_trans_NIPA; Magnesium transporter NIPA

    4. NM_001256133.1 → NP_001243062.1  magnesium transporter NIPA2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream AUG start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AI119710, AK008106, AK041427, AV495155, BK001121
      UniProtKB/TrEMBL
      Q9D0N5
      Conserved Domains (1) summary
      cl23754
      Location:1 → 237
      EamA; EamA-like transporter family

    5. NM_023647.6 → NP_076136.2  magnesium transporter NIPA2 isoform 1

      See identical proteins and their annotated locations for NP_076136.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longest transcript. Variants 1-4 encode the same isoform (1).
      Source sequence(s)
      AI119710, AK028734, AK041427, BK001121
      Consensus CDS
      CCDS21316.1
      UniProtKB/Swiss-Prot
      Q3U3I0, Q9JJC8
      UniProtKB/TrEMBL
      Q9D0N5
      Related
      ENSMUSP00000114020.2, ENSMUST00000119201.8
      Conserved Domains (1) summary
      pfam05653
      Location:8 → 302
      Mg_trans_NIPA; Magnesium transporter NIPA

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      55581014..55612241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006541324.4 → XP_006541387.1  magnesium transporter NIPA2 isoform X1

      See identical proteins and their annotated locations for XP_006541387.1

      UniProtKB/Swiss-Prot
      Q3U3I0, Q9JJC8
      UniProtKB/TrEMBL
      Q9D0N5
      Conserved Domains (1) summary
      pfam05653
      Location:8 → 302
      Mg_trans_NIPA; Magnesium transporter NIPA
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JJC8.1 GenPept UniProtKB/Swiss-Prot:Q9JJC8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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