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

Gene ID: 102723475, updated on 10-Oct-2023

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_2023_10 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
  • 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

Genotypes

General gene information

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Homology

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_2023_10

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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