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    KCTD4 potassium channel tetramerization domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 386618, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KCTD4provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:23227
    See related
    Ensembl:ENSG00000180332 MIM:620638; AllianceGenome:HGNC:23227
    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
    bA321C24.3
    Summary
    Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 6.1), skin (RPKM 1.4) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See KCTD4 in Genome Data Viewer
    Location:
    13q14.12-q14.13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (45192853..45201045, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (44412904..44421096, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (45766988..45775180, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr13:45697873-45698066 Neighboring gene general transcription factor IIF subunit 2 Neighboring gene RN7SK pseudogene 4 Neighboring gene RNA, U6 small nuclear 69, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5311 Neighboring gene uncharacterized LOC124903168 Neighboring gene uncharacterized LOC105370190

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
    2. Comprehensive Proteomic Analysis of PGC7-Interacting Proteins. Liu H, et al. J Proteome Res, 2017 Sep 1. PMID 28712289
    3. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article
    4. Widespread macromolecular interaction perturbations in human genetic disorders. Sahni N, et al. Cell, 2015 Apr 23. PMID 25910212, Free PMC Article
    5. An inter-species protein-protein interaction network across vast evolutionary distance. Zhong Q, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107014, Free PMC Article

    See all (12) 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)

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 KCTD4
    Names
    potassium channel tetramerisation domain containing 4

    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_198404.3 → NP_940686.2  BTB/POZ domain-containing protein KCTD4

      See identical proteins and their annotated locations for NP_940686.2

      Status: VALIDATED

      Source sequence(s)
      AL138963, BC018063, BQ575935, DA683655, DB557284
      Consensus CDS
      CCDS9396.1
      UniProtKB/Swiss-Prot
      Q5W0P9, Q8WVF5
      Related
      ENSP00000368402.1, ENST00000379108.2
      Conserved Domains (1) summary
      cd18364
      Location:34 → 119
      BTB_POZ_KCTD4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 4 (KCTD4)

    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
      45192853..45201045 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      44412904..44421096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVF5.2 GenPept UniProtKB/Swiss-Prot:Q8WVF5

    Gene LinkOut

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

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