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    KCTD8 potassium channel tetramerization domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 386617, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCTD8provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:22394
    See related
    Ensembl:ENSG00000183783 MIM:618442; AllianceGenome:HGNC:22394
    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
    Summary
    Predicted to enable G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection and postsynaptic membrane. Predicted to be part of receptor complex. Predicted to be active in postsynapse and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 3.7), thyroid (RPKM 1.4) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCTD8 in Genome Data Viewer
    Location:
    4p13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (44173903..44448809, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (44140713..44416533, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44175920..44450826, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900849 Neighboring gene uncharacterized LOC105374438 Neighboring gene long intergenic non-protein coding RNA 2475 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:44058850-44059376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:44183470-44184174 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:44184175-44184879 Neighboring gene uncharacterized LOC107986275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665473-44665974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665975-44666474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:44679656-44680544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15397 Neighboring gene Yip1 domain family member 7 Neighboring gene GTP binding elongation factor GUF1

    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. Epigenetic silencing of KCTD8 promotes hepatocellular carcinoma growth by activating PI3K/AKT signaling.
      Title: Epigenetic silencing of KCTD8 promotes hepatocellular carcinoma growth by activating PI3K/AKT signaling.
    2. Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis.
      Title: Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis.
    3. KCTD8 might modulate adverse effects of smoking during pregnancy on brain development via apoptosis triggered by low intracellular levels of potassium, possibly reducing the number of progenitor cells
      Title: KCTD8 gene and brain growth in adverse intrauterine environment: a genome-wide association study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of the Protein C anticoagulant pathway.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD8
    Names
    potassium channel tetramerisation domain containing 8

    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_198353.3 → NP_938167.1  BTB/POZ domain-containing protein KCTD8

      See identical proteins and their annotated locations for NP_938167.1

      Status: VALIDATED

      Source sequence(s)
      AC131951, AK123347, DB561746
      Consensus CDS
      CCDS3467.1
      UniProtKB/Swiss-Prot
      A2RU39, Q6ZWB6
      Related
      ENSP00000353129.3, ENST00000360029.4
      Conserved Domains (2) summary
      cd18396
      Location:42 → 150
      BTB_POZ_KCTD8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein KCTD8
      cd22218
      Location:202 → 321
      H1_KCTD8; H1 domain found in potassium channel tetramerization domain-containing protein 8

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      44173903..44448809 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513690.4 → XP_011511992.1  BTB/POZ domain-containing protein KCTD8 isoform X1

      Conserved Domains (2) summary
      smart00225
      Location:46 → 145
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:46 → 142
      BTB; BTB/POZ domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      44140713..44416533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349967.1 → XP_054205942.1  BTB/POZ domain-containing protein KCTD8 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZWB6.1 GenPept UniProtKB/Swiss-Prot:Q6ZWB6

    Gene LinkOut

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

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