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    KCTD14 potassium channel tetramerization domain containing 14 [ Homo sapiens (human) ]

    Gene ID: 65987, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCTD14provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 14provided by HGNC
    Primary source
    HGNC:HGNC:23295
    See related
    Ensembl:ENSG00000151364 AllianceGenome:HGNC:23295
    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 be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in adrenal (RPKM 10.1), stomach (RPKM 9.5) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCTD14 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78015715..78046191, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77948957..77979424, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77726761..77757237, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene remodeling and spacing factor 1 Neighboring gene adipogenesis associated Mth938 domain containing Neighboring gene ribosomal protein L21 pseudogene 95 Neighboring gene integrator complex subunit 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77643873-77644620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77644621-77645367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3804 Neighboring gene MPRA-validated peak1367 silencer Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77727696-77728196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733111-77733678 Neighboring gene uncharacterized LOC124902723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77734249-77734816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733679-77734248 Neighboring gene Sharpr-MPRA regulatory region 11011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77741282-77741794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3805 Neighboring gene Sharpr-MPRA regulatory region 10650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77750634-77751590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5313 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:77790891-77791080 Neighboring gene uncharacterized LOC105369401 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive

    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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    Related articles in PubMed

    1. Alphafold Predictions Provide Insights into the Structural Features of the Functional Oligomers of All Members of the KCTD Family. Esposito L, et al. Int J Mol Sci, 2022 Nov 1. PMID 36362127, Free PMC Article
    2. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    3. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (10) citations in PubMed

    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

    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

    Readthrough NDUFC2-KCTD14

    Readthrough gene: NDUFC2-KCTD14, Included gene: NDUFC2

    Homology

    Clone Names

    • MGC2376, FLJ94527

    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
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD14
    Names
    potassium channel tetramerisation domain containing 14

    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_001282406.2 → NP_001269335.1  BTB/POZ domain-containing protein KCTD14 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' structure that results in use of downstream in-frame AUG compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK313892, AP003032, BC001929
      Consensus CDS
      CCDS60908.1
      UniProtKB/Swiss-Prot
      Q9BQ13
      Related
      ENSP00000431155.1, ENST00000533144.1
      Conserved Domains (1) summary
      cd18371
      Location:2 → 100
      BTB_POZ_KCTD14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 14 (KCTD14)

    2. NM_023930.4 → NP_076419.2  BTB/POZ domain-containing protein KCTD14 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AP003032, BC001929, BU631809, CB993622
      Consensus CDS
      CCDS8255.2
      UniProtKB/Swiss-Prot
      B2R9R8, Q9BQ13
      Related
      ENSP00000316482.5, ENST00000353172.6
      Conserved Domains (2) summary
      smart00225
      Location:35 → 125
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:35 → 118
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      78015715..78046191 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      77948957..77979424 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ13.2 GenPept UniProtKB/Swiss-Prot:Q9BQ13

    Gene LinkOut

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

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