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

Gene ID: 130535, updated on 5-Mar-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 protein homooligomerization. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
2q33.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200488958..200510068, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200972443..200993548, complement)
105.20220307 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
  • 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. 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
  4. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

See all (15) 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_2023_10

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

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