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    NIPAL2 NIPA like domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 79815, updated on 10-Dec-2024

    Summary

    Official Symbol
    NIPAL2provided by HGNC
    Official Full Name
    NIPA like domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:25854
    See related
    Ensembl:ENSG00000104361 AllianceGenome:HGNC:25854
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NPAL2; SLC57A4
    Summary
    Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 16.1), prostate (RPKM 7.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See NIPAL2 in Genome Data Viewer
    Location:
    8q22.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (98189826..98294235, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (99315312..99419709, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99202054..99306463, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27678 Neighboring gene tRNA-undetermined (NNN) 2-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19395 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:99177852-99179051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:99179424-99180035 Neighboring gene reactive intermediate imine deaminase A homolog Neighboring gene NIPAL2 antisense RNA 1 Neighboring gene POP1 homolog, ribonuclease P/MRP subunit Neighboring gene RNA, U6 small nuclear 914, pseudogene Neighboring gene uncharacterized LOC105375659 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:99271842-99273041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:99317371-99318570 Neighboring gene NANOG hESC enhancer GRCh37_chr8:99355446-99355947 Neighboring gene Sharpr-MPRA regulatory region 13929 Neighboring gene uncharacterized LOC124901988 Neighboring gene Sharpr-MPRA regulatory region 12621 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:99396932-99397599 Neighboring gene serine/threonine kinase 3 Neighboring gene microRNA 9903

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (20 hits/1248 screens)

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ13955

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in magnesium ion transmembrane transport  
    involved_in magnesium ion transport  
    Component Evidence Code Pubs
    is_active_in membrane  

    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_001321635.2 → NP_001308564.1  NIPA-like protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AI753381, AK024017, AK025015, BC144055, BU677761, DA482369
      Consensus CDS
      CCDS83310.1
      UniProtKB/Swiss-Prot
      A2RTY8, Q9H841
      Related
      ENSP00000407087.2, ENST00000430223.7
      Conserved Domains (1) summary
      cl23754
      Location:45 → 332
      EamA; EamA-like transporter family
    2. NM_001321636.2 → NP_001308565.1  NIPA-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon resultiing in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI753381, AK024017, AK025015, BC144055, BU677761, DA482369
      UniProtKB/Swiss-Prot
      Q9H841
      Conserved Domains (1) summary
      cl23754
      Location:45 → 315
      EamA; EamA-like transporter family
    3. NM_024759.3 → NP_079035.1  NIPA-like protein 2 isoform b

      See identical proteins and their annotated locations for NP_079035.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an additional exon that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI753381, AK024017, AK025015, BU677761, DA482369
      Consensus CDS
      CCDS6278.1
      UniProtKB/Swiss-Prot
      Q9H841
      Related
      ENSP00000339256.3, ENST00000341166.3
      Conserved Domains (1) summary
      cl23754
      Location:45 → 332
      EamA; EamA-like transporter family

    RNA

    1. NR_135745.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI753381, AK024017, AK025015, AL706246, AW082976, BC144055, BU677761, DA482369
    2. NR_135746.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI753381, AK024017, AK025015, AL706246, AP003439, AW082976, BC144055, BU677761, DA482369
    3. NR_135747.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI753381, AK024017, AK025015, BC144055, BP346328, BU677761, DA184376, DA482369, DC402113

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      98189826..98294235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517302.4 → XP_011515604.2  NIPA-like protein 2 isoform X1

      Conserved Domains (1) summary
      cl23754
      Location:45 → 186
      EamA; EamA-like transporter family
    2. XM_047422243.1 → XP_047278199.1  NIPA-like protein 2 isoform X2

    RNA

    1. XR_928352.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      99315312..99419709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361244.1 → XP_054217219.1  NIPA-like protein 2 isoform X1

    2. XM_054361245.1 → XP_054217220.1  NIPA-like protein 2 isoform X2

    RNA

    1. XR_008487882.1 RNA Sequence

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