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    KCTD9 potassium channel tetramerization domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 54793, updated on 11-Apr-2024

    Summary

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    Official Symbol
    KCTD9provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:22401
    See related
    Ensembl:ENSG00000104756 MIM:617265; AllianceGenome:HGNC:22401
    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
    BTBD27
    Summary
    Enables cullin family protein binding activity; identical protein binding activity; and protein self-association. Predicted to be involved in intracellular signal transduction; protein homooligomerization; and protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 8.3), esophagus (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8p21.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (25427847..25458433, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (25703069..25733653, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (25285363..25315949, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 5 Neighboring gene uncharacterized LOC105379331 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25217237-25217846 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25217847-25218454 Neighboring gene Sharpr-MPRA regulatory region 10380 Neighboring gene uncharacterized LOC124901913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27125 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:25336688-25337887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:25338615-25339116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:25339117-25339616 Neighboring gene gonadotropin releasing hormone 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:25348932-25349432 Neighboring gene Sharpr-MPRA regulatory region 1118 Neighboring gene cell division cycle associated 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:25457409-25458332 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:25472096-25472597 Neighboring gene uncharacterized LOC107986933 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25517514-25518200 Neighboring gene uncharacterized LOC105379333 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:25532846-25533449 Neighboring gene NANOG hESC enhancer GRCh37_chr8:25537050-25537623

    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. KCTD9 contributes to liver injury through NK cell activation during hepatitis B virus-induced acute-on-chronic liver failure. Chen T, et al. Clin Immunol, 2013 Mar. PMID 23376586
    2. [Increased expression of KCTD9, a novel potassium channel related gene, correlates with disease severity in patients with viral hepatitis B]. Zhou YY, et al. Zhonghua Gan Zang Bing Za Zhi, 2008 Nov. PMID 19032868
    3. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. Ji AX, et al. J Mol Biol, 2016 Jan 16. PMID 26334369
    4. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Kato K, et al. J Hum Genet, 2021 May. PMID 33130828
    5. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. Yu Y, et al. Genome Res, 2001 Aug. PMID 11483580, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The authors find that the KCTD proteins 5, 6, 9 and 17 bind to Cul3 with high affinity, while the KCTD proteins 1 and 16 do not have detectable binding.
      Title: Structural Insights into KCTD Protein Assembly and Cullin3 Recognition.
    2. These results suggest the involvement of KCTD9 in NK cell activation and provide additional insight into a potential therapeutic target for molecular manipulation for hepatitis B virus-induced acute-on-chronic liver failure patients
      Title: KCTD9 contributes to liver injury through NK cell activation during hepatitis B virus-induced acute-on-chronic liver failure.
    3. The increased expression of potassium channel gene KCTD9 correlates with disease severity in patients with viral hepatitis B.
      Title: [Increased expression of KCTD9, a novel potassium channel related gene, correlates with disease severity in patients with viral hepatitis B].
    Submit: New GeneRIF Correction

    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

    Homology

    Clone Names

    • FLJ20038

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD9
    Names
    potassium channel tetramerisation domain containing 9

    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_017634.4 → NP_060104.2  BTB/POZ domain-containing protein KCTD9

      See identical proteins and their annotated locations for NP_060104.2

      Status: VALIDATED

      Source sequence(s)
      AC103779, BC021216, BQ022851, DA115324
      Consensus CDS
      CCDS6048.1
      UniProtKB/Swiss-Prot
      Q6NUM8, Q7L273, Q9NXV4
      UniProtKB/TrEMBL
      A0AA34QVI4
      Related
      ENSP00000221200.4, ENST00000221200.9
      Conserved Domains (3) summary
      COG1357
      Location:168 → 378
      YjbI; Uncharacterized protein YjbI, contains pentapeptide repeats [Function unknown]
      cd17073
      Location:2 → 66
      KHA; dimerization domain of potassium ion channel, similar to doublecortin-like domain, found in potassium channel tetramerization domain containing 9 (KCTD9) and similar proteins
      cd18368
      Location:89 → 188
      BTB_POZ_KCTD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 9 (KCTD9)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      25427847..25458433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421912.1 → XP_047277868.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    2. XM_047421913.1 → XP_047277869.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    3. XM_047421914.1 → XP_047277870.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    4. XM_047421915.1 → XP_047277871.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    5. XM_047421911.1 → XP_047277867.1  BTB/POZ domain-containing protein KCTD9 isoform X1

      Conserved Domains (3) summary
      COG1357
      Location:216 → 308
      YjbI; Uncharacterized protein YjbI, contains pentapeptide repeats [Function unknown]
      cd17073
      Location:2 → 66
      KHA; dimerization domain of potassium ion channel, similar to doublecortin-like domain, found in potassium channel tetramerization domain containing 9 (KCTD9) and similar proteins
      cd18368
      Location:89 → 188
      BTB_POZ_KCTD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 9 (KCTD9)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      25703069..25733653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360726.1 → XP_054216701.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    2. XM_054360727.1 → XP_054216702.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    3. XM_054360728.1 → XP_054216703.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    4. XM_054360729.1 → XP_054216704.1  BTB/POZ domain-containing protein KCTD9 isoform X2

    5. XM_054360725.1 → XP_054216700.1  BTB/POZ domain-containing protein KCTD9 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L273.1 GenPept UniProtKB/Swiss-Prot:Q7L273

    Gene LinkOut

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

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