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    KCTD2 potassium channel tetramerization domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 23510, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KCTD2provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:21294
    See related
    Ensembl:ENSG00000180901 MIM:613422; AllianceGenome:HGNC:21294
    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 cullin family protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 22.9), brain (RPKM 16.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCTD2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75032571..75065886)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75924318..75957335)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73028666..73061981)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73008409-73009092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73009093-73009775 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73015923-73017122 Neighboring gene mitochondrial ribosomal protein L58 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73021286-73021443 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73029803-73030784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8952 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73031872-73032031 Neighboring gene RNA, U6 small nuclear 362, pseudogene Neighboring gene tRNA-Arg (anticodon CCT) 1-1 Neighboring gene tRNA-Arg (anticodon CCT) 2-1 Neighboring gene tRNA-Arg (anticodon TCG) 3-1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73037362-73037932 Neighboring gene Sharpr-MPRA regulatory region 3986 Neighboring gene RNA, 7SL, cytoplasmic 573, pseudogene Neighboring gene ATP synthase peripheral stalk subunit d Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73074528-73075727 Neighboring gene tripartite motif containing 80, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73089299-73089872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73089873-73090445 Neighboring gene solute carrier family 16 member 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73100784-73101284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73101285-73101785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8955 Neighboring gene armadillo repeat containing 7

    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. ATP5H/KCTD2 locus is associated with Alzheimer's disease risk. Boada M, et al. Mol Psychiatry, 2014 Jun. PMID 23857120, Free PMC Article
    2. Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. Sidjanin DJ, et al. Genomics, 2003 Feb. PMID 12620391
    3. KCTD Proteins Have Redundant Functions in Controlling Cellular Growth. Rizk R, et al. Int J Mol Sci, 2024 May 3. PMID 38732215, Free PMC Article
    4. KCTD2, an adaptor of Cullin3 E3 ubiquitin ligase, suppresses gliomagenesis by destabilizing c-Myc. Kim EJ, et al. Cell Death Differ, 2017 Apr. PMID 28060381, Free PMC Article
    5. Human Multisubunit E3 Ubiquitin Ligase Required for Heterotrimeric G-Protein β-Subunit Ubiquitination and Downstream Signaling. Young BD, et al. J Proteome Res, 2021 Sep 3. PMID 34342229

    See all (45) 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

    EBI GWAS Catalog

    Description
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ18320, KIAA0176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD2
    Names
    potassium channel tetramerisation domain containing 2
    potassium channel tetramerization domain-containing protein 2

    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_015353.3 → NP_056168.1  BTB/POZ domain-containing protein KCTD2

      See identical proteins and their annotated locations for NP_056168.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.
      Source sequence(s)
      BC033329, CD742648, D79998, DB460074
      Consensus CDS
      CCDS32728.1
      UniProtKB/Swiss-Prot
      Q14681
      Related
      ENSP00000312814.6, ENST00000322444.7
      Conserved Domains (1) summary
      cd18389
      Location:72 → 177
      BTB_POZ_KCTD2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 2 (KCTD2)

    RNA

    1. NR_110834.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the in-frame ORF does not meet RefSeq quality criteria.
      Source sequence(s)
      AC087651, BC033329, CD742648
      Related
      ENST00000375286.7

    2. NR_110835.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains three alternate 5' exons, compared to variant 1. This variant is represented as non-coding because the in-frame ORF does not meet RefSeq quality criteria.
      Source sequence(s)
      AK307083, BC033329, CD742648, DA408645

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75032571..75065886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75924318..75957335
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14681.3 GenPept UniProtKB/Swiss-Prot:Q14681

    Gene LinkOut

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

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