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    KCTD18 potassium channel tetramerization domain containing 18 [ Homo sapiens (human) ]

    Gene ID: 130535, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KCTD18provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 18provided by HGNC
    Primary source
    HGNC:HGNC:26446
    See related
    Ensembl:ENSG00000155729 AllianceGenome:HGNC:26446
    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
    6530404F10Rik
    Summary
    Predicted to be involved in monoatomic ion transmembrane transport and protein homooligomerization. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.4), prostate (RPKM 6.2) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See KCTD18 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200488958..200510068, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200972443..200993548, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201353681..201374791, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated serine rich 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:201243374-201243900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16957 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:201253767-201254966 Neighboring gene uncharacterized LOC101927741 Neighboring gene RNY4 pseudogene 34 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:201270083-201271282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12226 Neighboring gene shugoshin 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201473343-201474542 Neighboring gene aldehyde oxidase 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:201513174-201514373

    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. Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes. Pichler I, et al. J Mol Neurosci, 2013 Mar. PMID 23054586
    2. Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. Nagai T, et al. J Cell Sci, 2018 Dec 12. PMID 30404837
    3. A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development. Asmar AJ, et al. Nat Commun, 2023 Jul 26. PMID 37495603, Free PMC Article
    4. RECQ1 helicase is involved in replication stress survival and drug resistance in multiple myeloma. Viziteu E, et al. Leukemia, 2017 Oct. PMID 28186131, Free PMC Article
    5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

    See all (17) 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

    Homology

    Clone Names

    • FLJ31322, FLJ37818

    Gene Ontology Provided by GOA

    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 KCTD18
    Names
    potassium channel tetramerisation domain containing 18

    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_001321547.2 → NP_001308476.1  BTB/POZ domain-containing protein KCTD18 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK095137, AK290867, BC067755, DA343572
      Consensus CDS
      CCDS2330.1
      UniProtKB/Swiss-Prot
      Q53T21, Q6NW26, Q6PCD8, Q6PI47, Q8N9B7, Q96N73
      UniProtKB/TrEMBL
      A8K4A2
      Related
      ENSP00000386751.1, ENST00000409157.5
      Conserved Domains (2) summary
      smart00225
      Location:12 → 98
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:14 → 98
      BTB; BTB/POZ domain

    2. NM_001321548.2 → NP_001308477.1  BTB/POZ domain-containing protein KCTD18 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012459

    3. NM_001321550.2 → NP_001308479.1  BTB/POZ domain-containing protein KCTD18 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012459

    4. NM_152387.4 → NP_689600.2  BTB/POZ domain-containing protein KCTD18 isoform 1

      See identical proteins and their annotated locations for NP_689600.2

      Status: VALIDATED

      Source sequence(s)
      BC045189, BU181789, CB960352, DA343572
      Consensus CDS
      CCDS2330.1
      UniProtKB/Swiss-Prot
      Q53T21, Q6NW26, Q6PCD8, Q6PI47, Q8N9B7, Q96N73
      UniProtKB/TrEMBL
      A8K4A2
      Related
      ENSP00000352941.3, ENST00000359878.8
      Conserved Domains (2) summary
      smart00225
      Location:12 → 98
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cl02518
      Location:14 → 98
      BTB; BTB/POZ domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      200488958..200510068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      200972443..200993548 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PI47.2 GenPept UniProtKB/Swiss-Prot:Q6PI47

    Gene LinkOut

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

    Chemical Information
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