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

Gene ID: 54793, updated on 28-Oct-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 and identical protein binding activity. Predicted to be involved in intracellular signal transduction; protein homooligomerization; and protein ubiquitination. [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in heart (RPKM 8.3), esophagus (RPKM 7.8) and 25 other tissues See more
Orthologs
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Genomic context

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See KCTD9 in Genome Data Viewer
Location:
8p21.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (25427847..25458433, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (25703069..25733653, complement)
RS_2024_09 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 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. [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
  2. 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
  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 (39) 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_2024_08

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

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