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    NKAIN2 sodium/potassium transporting ATPase interacting 2 [ Homo sapiens (human) ]

    Gene ID: 154215, updated on 3-Apr-2024

    Summary

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    Official Symbol
    NKAIN2provided by HGNC
    Official Full Name
    sodium/potassium transporting ATPase interacting 2provided by HGNC
    Primary source
    HGNC:HGNC:16443
    See related
    Ensembl:ENSG00000188580 MIM:609758; AllianceGenome:HGNC:16443
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCBA; TCBA1; FAM77B; NKAIP2
    Summary
    This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
    Expression
    Biased expression in brain (RPKM 16.9) and heart (RPKM 0.4) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q22.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (123803865..124825640)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (124991747..126013690)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (124125010..125146786)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene triadin Neighboring gene uncharacterized LOC105377982 Neighboring gene MPRA-validated peak6087 silencer Neighboring gene uncharacterized LOC105377981 Neighboring gene MPRA-validated peak6091 silencer Neighboring gene MPRA-validated peak6092 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124237778-124238627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124287082-124287615 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124350663-124351164 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124410214-124410715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:124669617-124670116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:125004573-125005172 Neighboring gene MPRA-validated peak6095 silencer Neighboring gene MPRA-validated peak6096 silencer Neighboring gene MPRA-validated peak6097 silencer Neighboring gene MPRA-validated peak6098 silencer Neighboring gene MPRA-validated peak6100 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125276459-125277048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125277049-125277637 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene MPRA-validated peak6102 silencer Neighboring gene MPRA-validated peak6103 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:125426552-125426785 Neighboring gene uncharacterized LOC124901394 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:125444775-125445974 Neighboring gene ring finger protein 217

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. NKAIN2 functions as a novel tumor suppressor in prostate cancer. Mao X, et al. Oncotarget, 2016 Sep 27. PMID 27588475, Free PMC Article
    2. High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma. Romania P, et al. PLoS One, 2013. PMID 24205241, Free PMC Article
    3. Molecular cytogenetic analysis of the breakpoint region at 6q21-22 in T-cell lymphoma/leukemia cell lines. Tagawa H, et al. Genes Chromosomes Cancer, 2002 Jun. PMID 11979551
    4. Downregulation of microRNA-181d had suppressive effect on pancreatic cancer development through inverse regulation of KNAIN2. Zhang G, et al. Tumour Biol, 2017 Apr. PMID 28381166
    5. Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations. Hatemi PK, et al. Behav Genet, 2014 May. PMID 24569950, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NKAIN2 is a novel tumor suppressor gene whose activity is commonly reduced in prostate cancer
      Title: NKAIN2 functions as a novel tumor suppressor in prostate cancer.
    2. Inhibiting miR-181d may suppress pancreatic cancer development, possibly through the inverse regulation on NKAIN2.
      Title: Downregulation of microRNA-181d had suppressive effect on pancreatic cancer development through inverse regulation of KNAIN2.
    3. High levels of NKAIN2 were detected in the MYCN-amplified NB cell lines.
      Title: High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study of neuroticism in a population-based sample.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. It is concluded that germline alterations of the TCBA1 gene are associated with developmental delay and typical physical features.
      Title: Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.
    9. T-cell lymphoma breakpoint associated target 1 is a possible target gene for T-cell lineage-specific chromosome aberrations at 6q21.
      Title: Molecular cytogenetic analysis of the breakpoint region at 6q21-22 in T-cell lymphoma/leukemia cell lines.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    EBI GWAS Catalog
    A genome-wide association study of neuroticism in a population-based sample.
    EBI GWAS Catalog
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    EBI GWAS Catalog
    Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC41924

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in regulation of sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2
    Names
    Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2
    Na+/K+ transporting ATPase interacting 2
    T-cell lymphoma breakpoint-associated target protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_021365.2 RefSeqGene

      Range
      5002..1026777
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040214.3 → NP_001035304.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001035304.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK055326, AL354936, BC035062
      Consensus CDS
      CCDS34526.1
      UniProtKB/Swiss-Prot
      Q5VXU1, Q8IYR4, Q8TF67
      UniProtKB/TrEMBL
      B3KNZ0
      Related
      ENSP00000357402.1, ENST00000368417.6
      Conserved Domains (1) summary
      pfam05640
      Location:10 → 207
      NKAIN; Na,K-Atpase Interacting protein

    2. NM_001300737.2 → NP_001287666.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001287666.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate exon in its 5' end compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (3) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL354936, BC035062
      UniProtKB/TrEMBL
      B3KNZ0
      Conserved Domains (1) summary
      pfam05640
      Location:18 → 206
      NKAIN; Na,K-Atpase Interacting protein

    3. NM_001300738.2 → NP_001287667.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate exon in its 5' end compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (4) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK309802, AL354936, BC035062
      UniProtKB/Swiss-Prot
      Q5VXU1
      Conserved Domains (1) summary
      pfam05640
      Location:2 → 117
      NKAIN; Na,K-Atpase Interacting protein

    4. NM_001300740.1 → NP_001287669.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 5

      See identical proteins and their annotated locations for NP_001287669.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (5) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK315886, BC035062
      UniProtKB/TrEMBL
      A6NLV5, B0AZU5
      Conserved Domains (1) summary
      pfam05640
      Location:2 → 105
      NKAIN; Na,K-Atpase Interacting protein

    5. NM_153355.5 → NP_699186.2  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 2

      See identical proteins and their annotated locations for NP_699186.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK310763, AL354936, BC035062
      UniProtKB/Swiss-Prot
      Q5VXU1
      Conserved Domains (1) summary
      pfam05640
      Location:10 → 140
      NKAIN; Na,K-Atpase Interacting protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      123803865..124825640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010318.3 → XP_016865807.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X1

      UniProtKB/TrEMBL
      B3KNZ0

    RNA

    1. XR_007059213.1 RNA Sequence

    2. XR_007059215.1 RNA Sequence

    3. XR_007059214.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      124991747..126013690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354379.1 → XP_054210354.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X2

    2. XM_054354382.1 → XP_054210357.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X4

    3. XM_054354380.1 → XP_054210355.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X3

    4. XM_054354381.1 → XP_054210356.1  sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VXU1.1 GenPept UniProtKB/Swiss-Prot:Q5VXU1

    Gene LinkOut

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

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