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KCNRG potassium channel regulator [ Homo sapiens (human) ]

Gene ID: 283518, updated on 5-Mar-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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Location:
13q14.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50015444..50020922)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49236038..49241514)
105.20220307 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
  • 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. Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region. Birerdinc A, et al. Tumour Biol, 2010 Jan. PMID 20237900, Free PMC Article
  2. Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Alimohammadi M, et al. Proc Natl Acad Sci U S A, 2009 Mar 17. PMID 19251657, Free PMC Article
  3. Genetic and expression analysis of the KCNRG gene in hepatocellular carcinomas. Cho YG, et al. Exp Mol Med, 2006 Jun 30. PMID 16819283
  4. A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3. Ivanov DV, et al. FEBS Lett, 2003 Mar 27. PMID 12650944
  5. Human RFP2 gene promoter: unique structure and unusual strength. Skoblov M, et al. Biochem Biophys Res Commun, 2006 Apr 14. PMID 16499869, Free PMC Article

See all (17) citations in PubMed

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)

Genotypes

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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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