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

Gene ID: 65987, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in adrenal (RPKM 10.1), stomach (RPKM 9.5) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
11q14.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (78015715..78046191, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77948957..77979424, complement)
105.20220307 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
  • 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

    See identical proteins and their annotated locations for NP_001269335.1

    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

    See identical proteins and their annotated locations for NP_076419.2

    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_2023_10

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

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