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    KCTD15 potassium channel tetramerization domain containing 15 [ Homo sapiens (human) ]

    Gene ID: 79047, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCTD15provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 15provided by HGNC
    Primary source
    HGNC:HGNC:23297
    See related
    Ensembl:ENSG00000153885 MIM:615240; AllianceGenome:HGNC:23297
    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
    Enables identical protein binding activity. Predicted to be involved in protein homooligomerization. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in skin (RPKM 22.8), endometrium (RPKM 7.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCTD15 in Genome Data Viewer
    Location:
    19q13.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (33794040..33815761)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (36314814..36336529)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (34287775..34306666)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:34093822-34095021 Neighboring gene ribosomal protein L21 pseudogene 131 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34111820-34112564 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:34129278-34129809 Neighboring gene carbohydrate sulfotransferase 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:34163847-34164027 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34193437-34194010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34215088-34215685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34215686-34216282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34254252-34254856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34285199-34285708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:34290888-34291656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34311239-34312233 Neighboring gene uncharacterized LOC124904693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:34360033-34360675 Neighboring gene S-phase upregulated non-coding 1

    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. BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. Miller KA, et al. J Med Genet, 2024 Apr 19. PMID 38296633, Free PMC Article
    2. Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in anorexia and bulimia nervosa. Gamero-Villarroel C, et al. Brain Behav, 2017 Sep. PMID 28948079, Free PMC Article
    3. KCTD15 deregulation is associated with alterations of the NF-κB signaling in both pathological and physiological model systems. Smaldone G, et al. Sci Rep, 2021 Sep 14. PMID 34521919, Free PMC Article
    4. Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population. Lv D, et al. Gene, 2015 Apr 15. PMID 25637721
    5. Obesity genotype score and cardiovascular risk in women with type 2 diabetes mellitus. He M, et al. Arterioscler Thromb Vasc Biol, 2010 Feb. PMID 19910641, Free PMC Article

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
      Title: BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
    2. KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
      Title: KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
    3. KCTD15 deregulation is associated with alterations of the NF-kappaB signaling in both pathological and physiological model systems.
      Title: KCTD15 deregulation is associated with alterations of the NF-κB signaling in both pathological and physiological model systems.
    4. The KCTD15 rs287103 T variant allele was associated with increased risk of bulimia nervosa and with scores of psychopathological scales of these patients.
      Title: Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in anorexia and bulimia nervosa.
    5. SEC16B, MC4R, MAP2K5 and KCTD15 (rs17782313, rs543874, rs2241423 and rs11084753) polymorphisms are associated with the risk for children obesity in China.
      Title: Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population.
    6. These data suggest that the non-SUMOylated form of Kctd15 functions in neural crest development.
      Title: The BTB-containing protein Kctd15 is SUMOylated in vivo.
    7. Data show the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants of SEC16B rs10913469, SH2B1 rs4788102, PCSK1 rs6235, KCTD15 rs29941 and BAT2 rs2844479.
      Title: Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.
    8. results indicate that Kctd15 acts in the embryo at least in part by specifically binding to the activation domain of AP-2alpha, thereby blocking the function of this critical factor in the neural crest induction hierarchy.
      Title: Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.
    9. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: MC4R variant is associated with BMI but not response to resistance training in young females.
    10. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2628, MGC25497

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD15
    Names
    potassium channel tetramerisation domain containing 15
    potassium channel tetramerization domain-containing protein 15

    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_001129994.2 → NP_001123466.1  BTB/POZ domain-containing protein KCTD15 isoform 2

      See identical proteins and their annotated locations for NP_001123466.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 3' coding region, compared to variant 1, that results in a frameshift. The resulting protein (isoform 2) has a longer and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same protein.
      Source sequence(s)
      AI741557, AK025590, AK027901, AK225793, BP339379, CX752088
      Consensus CDS
      CCDS46039.1
      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6
      UniProtKB/TrEMBL
      B4DGD9
      Related
      ENSP00000508199.1, ENST00000683859.1
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    2. NM_001129995.2 → NP_001123467.1  BTB/POZ domain-containing protein KCTD15 isoform 2

      See identical proteins and their annotated locations for NP_001123467.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' UTR and in the 3' coding region, compared to variant 1, that results in a frameshift. The resulting protein (isoform 2) has a longer and distinct C-terminus compared to isoform 1. Variants 2 and 3 both encode the same protein.
      Source sequence(s)
      AC008556, AI741557, AK291465
      Consensus CDS
      CCDS46039.1
      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6
      UniProtKB/TrEMBL
      B4DGD9
      Related
      ENSP00000467612.1, ENST00000589786.5
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    3. NM_024076.3 → NP_076981.2  BTB/POZ domain-containing protein KCTD15 isoform 1

      See identical proteins and their annotated locations for NP_076981.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant represents the longest transcript yet it encodes the shorter protein (isoform 1).
      Source sequence(s)
      AC008556, AI741557, BP339379, CN301512
      Consensus CDS
      CCDS12434.1
      UniProtKB/TrEMBL
      B4DGD9
      Related
      ENSP00000284006.4, ENST00000284006.10
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      33794040..33815761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027284.2 → XP_016882773.1  BTB/POZ domain-containing protein KCTD15 isoform X4

    2. XM_047439396.1 → XP_047295352.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    3. XM_047439395.1 → XP_047295351.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    4. XM_047439399.1 → XP_047295355.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    5. XM_047439401.1 → XP_047295357.1  BTB/POZ domain-containing protein KCTD15 isoform X3

    6. XM_047439394.1 → XP_047295350.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    7. XM_011527298.3 → XP_011525600.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      See identical proteins and their annotated locations for XP_011525600.1

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6
      UniProtKB/TrEMBL
      B4DGD9
      Related
      ENSP00000464812.1, ENST00000588881.5
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    8. XM_017027283.2 → XP_016882772.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6
      UniProtKB/TrEMBL
      B4DGD9
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    9. XM_047439402.1 → XP_047295358.1  BTB/POZ domain-containing protein KCTD15 isoform X3

    10. XM_047439400.1 → XP_047295356.1  BTB/POZ domain-containing protein KCTD15 isoform X3

    11. XM_047439397.1 → XP_047295353.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    12. XM_047439393.1 → XP_047295349.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    13. XM_047439398.1 → XP_047295354.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    14. XM_011527296.3 → XP_011525598.2  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6
      UniProtKB/TrEMBL
      B4DGD9
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    15. XM_011527297.3 → XP_011525599.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      See identical proteins and their annotated locations for XP_011525599.1

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6
      UniProtKB/TrEMBL
      B4DGD9
      Conserved Domains (1) summary
      cd18388
      Location:55 → 153
      BTB_POZ_KCTD15; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 15 (KCTD15)

    16. XM_047439392.1 → XP_047295348.1  BTB/POZ domain-containing protein KCTD15 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      36314814..36336529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322083.1 → XP_054178058.1  BTB/POZ domain-containing protein KCTD15 isoform X4

    2. XM_054322073.1 → XP_054178048.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    3. XM_054322071.1 → XP_054178046.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    4. XM_054322081.1 → XP_054178056.1  BTB/POZ domain-containing protein KCTD15 isoform X3

    5. XM_054322072.1 → XP_054178047.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    6. XM_054322070.1 → XP_054178045.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    7. XM_054322077.1 → XP_054178052.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    8. XM_054322078.1 → XP_054178053.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    9. XM_054322082.1 → XP_054178057.1  BTB/POZ domain-containing protein KCTD15 isoform X3

    10. XM_054322080.1 → XP_054178055.1  BTB/POZ domain-containing protein KCTD15 isoform X3

    11. XM_054322074.1 → XP_054178049.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    12. XM_054322069.1 → XP_054178044.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    13. XM_054322075.1 → XP_054178050.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    14. XM_054322076.1 → XP_054178051.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    15. XM_054322079.1 → XP_054178054.1  BTB/POZ domain-containing protein KCTD15 isoform X2

      UniProtKB/Swiss-Prot
      A8K600, Q96SI1, Q9BVI6

    16. XM_054322068.1 → XP_054178043.1  BTB/POZ domain-containing protein KCTD15 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SI1.1 GenPept UniProtKB/Swiss-Prot:Q96SI1

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