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    KCNRG potassium channel regulator [ Homo sapiens (human) ]

    Gene ID: 283518, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCNRGprovided by HGNC
    Official Full Name
    potassium channel regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:18893
    See related
    Ensembl:ENSG00000198553 MIM:607947; AllianceGenome:HGNC:18893
    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
    DLTET
    Summary
    This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Broad expression in testis (RPKM 38.4), bone marrow (RPKM 16.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNRG in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50015444..50020922)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49236038..49241514)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50589580..50595058)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene SPRY domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7756 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:50546741-50546933 Neighboring gene Sharpr-MPRA regulatory region 13323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5351 Neighboring gene deleted in lymphocytic leukemia 2 Neighboring gene microRNA 3613 Neighboring gene tripartite motif containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7758 Neighboring gene microRNA 16-1 Neighboring gene microRNA 15a

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The haploinsufficiency of KCNRG might be relevant to the progression of chronic lymphocytic leukemia (CLL)and multiple myeloma(MM) at least in a subset of patients.
      Title: Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region.
    2. KCNRG is an ER-associated protein, which is proposed to regulate Kv1 family channel proteins by retaining a fraction of channels in endomembranes.
      Title: Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels.
    3. Autoantibodies to KCNRG were present in 7 of the 8 patients with respiratory symptoms in autoimmune polyendocrine syndrome type 1
      Title: Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen.
    4. KCNRG suppresses K+ channel activity in human prostate cell line LNCaP.
      Title: A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3.
    5. Results suggest that genetic alterations and the expression of KCNRG might play an important role in the development and/or progression of a subset of hepatocellular carcinoma.
      Title: Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas.
    6. the primary characterization of a new gene KCNRG mapped at chromosome band 13q14.3; is a candidate for a B-cell chronic lymphocytic leukemia and prostate cancer tumor suppressor gene
      Title: A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    potassium channel regulatory protein
    Names
    putative potassium channel regulatory protein

    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_173605.2 → NP_775876.1  potassium channel regulatory protein isoform 1

      See identical proteins and their annotated locations for NP_775876.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the shorter transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AY169388
      Consensus CDS
      CCDS9424.1
      UniProtKB/Swiss-Prot
      A2A2X9, Q0P6D0, Q8IU75, Q8N3Q9, Q8N5I3
      Related
      ENSP00000324191.1, ENST00000312942.2
      Conserved Domains (1) summary
      cl02518
      Location:7 → 94
      BTB; BTB/POZ domain

    2. NM_199464.3 → NP_955751.1  potassium channel regulatory protein isoform 2

      See identical proteins and their annotated locations for NP_955751.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon which results in a frameshift compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AY169387, BX116021
      Consensus CDS
      CCDS41889.1
      UniProtKB/TrEMBL
      L7MTJ6
      Related
      ENSP00000353661.4, ENST00000360473.8
      Conserved Domains (2) summary
      smart00225
      Location:7 → 104
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:7 → 94
      BTB; BTB/POZ domain

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      50015444..50020922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      49236038..49241514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5I3.1 GenPept UniProtKB/Swiss-Prot:Q8N5I3

    Gene LinkOut

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

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