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    LOC102723475 potassium voltage-gated channel subfamily E regulatory subunit 1B [ Homo sapiens (human) ]

    Gene ID: 102723475, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC102723475
    Gene description
    potassium voltage-gated channel subfamily E regulatory subunit 1B
    See related
    Ensembl:ENSG00000276289
    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
    KCNE1B
    Annotation information
    Note: GeneID:102723475 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:3753. [11 Jun 2021]
    Expression
    Biased expression in heart (RPKM 2.6), kidney (RPKM 2.3) and 5 other tissues See more
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    Genomic context

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    See LOC102723475 in Genome Data Viewer
    Location:
    21p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (7816677..7829632, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 11B Neighboring gene family with sequence similarity 243 member B Neighboring gene salivary glue protein Sgs-3-like Neighboring gene small integral membrane protein 34B Neighboring gene small nucleolar RNA SNORA11 Neighboring gene uncharacterized LOC105379505 Neighboring gene uncharacterized LOC124904992

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_000021.9 Chromosome 21 Reference GRCh38.p14 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients. Pantou MP, et al. Eur J Hum Genet, 2019 Aug. PMID 30936463, Free PMC Article
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General protein information

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    Preferred Names
    putative potassium voltage-gated channel subfamily E member 1B
    Names
    potassium channel, voltage gated subfamily E regulatory beta subunit 1B
    potassium voltage-gated channel subfamily E member 1B

    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_001330065.1 → NP_001316994.1  putative potassium voltage-gated channel subfamily E member 1B

      Status: VALIDATED

      Source sequence(s)
      CU633980
      UniProtKB/TrEMBL
      Q6FHJ6
      Conserved Domains (1) summary
      pfam02060
      Location:5 → 129
      ISK_Channel; Slow voltage-gated potassium channel

    2. NM_001369869.1 → NP_001356798.1  putative potassium voltage-gated channel subfamily E member 1B

      Status: VALIDATED

      Source sequence(s)
      CU633980
      UniProtKB/TrEMBL
      Q6FHJ6
      Related
      ENST00000618699.3
      Conserved Domains (1) summary
      pfam02060
      Location:5 → 129
      ISK_Channel; Slow voltage-gated potassium channel

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      7816677..7829632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723946.3 → XP_006724009.1  putative potassium voltage-gated channel subfamily E member 1B isoform X1

      UniProtKB/TrEMBL
      Q6FHJ6
      Conserved Domains (1) summary
      pfam02060
      Location:23 → 147
      ISK_Channel; Slow voltage-gated potassium channel
    Nucleotide Protein
    Heading Accession and Version

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