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    BTBD16 BTB domain containing 16 [ Homo sapiens (human) ]

    Gene ID: 118663, updated on 5-Mar-2024

    Summary

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    Official Symbol
    BTBD16provided by HGNC
    Official Full Name
    BTB domain containing 16provided by HGNC
    Primary source
    HGNC:HGNC:26340
    See related
    Ensembl:ENSG00000138152 AllianceGenome:HGNC:26340
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C10orf87
    Summary
    This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]
    Expression
    Biased expression in urinary bladder (RPKM 4.3), testis (RPKM 2.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q26.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122271296..122338159)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123167581..123234437)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124030811..124097674)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:123734371-123735166 Neighboring gene uncharacterized LOC124902517 Neighboring gene NSE4 homolog A, SMC5-SMC6 complex component Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:123778189-123779388 Neighboring gene transforming acidic coiled-coil containing protein 2 Neighboring gene Sharpr-MPRA regulatory region 10515 Neighboring gene Sharpr-MPRA regulatory regions 8460 and 2354 Neighboring gene MPRA-validated peak1120 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123836619-123837120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123844981-123845482 Neighboring gene Sharpr-MPRA regulatory regions 1076 and 11287 Neighboring gene uncharacterized LOC124902518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123914119-123915090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123931653-123932226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123933375-123933946 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123938237-123938774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123939851-123940388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:123952053-123952808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123955355-123956017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123960450-123961394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123959504-123960449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:123992934-123993434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124005137-124006083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124027705-124028206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124050601-124051101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124053014-124054004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4142 Neighboring gene RNA, U6 small nuclear 728, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:124128134-124128658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2893 Neighboring gene pleckstrin homology domain containing A1 Neighboring gene microRNA 3941

    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. Genome-wide association study of bipolar disorder in European American and African American individuals. Smith EN, et al. Mol Psychiatry, 2009 Aug. PMID 19488044, Free PMC Article
    2. Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. Naj AC, et al. Ann Hum Genet, 2013 May. PMID 23577725, Free PMC Article
    3. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. Uhl GR, et al. Arch Gen Psychiatry, 2008 Jun. PMID 18519826, Free PMC Article
    4. The DNA sequence and comparative analysis of human chromosome 10. Deloukas P, et al. Nature, 2004 May 27. PMID 15164054
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of bipolar disorder in European American and African American individuals.
    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

    EBI GWAS Catalog

    Description
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ25359, MGC129864, MGC129865

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 16

    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.

    Genomic

    1. NG_051638.1 RefSeqGene

      Range
      5552..72415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318189.3 → NP_001305118.1  BTB/POZ domain-containing protein 16 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC109262, DB052430, DB338661
      UniProtKB/Swiss-Prot
      Q32M84

    2. NM_144587.5 → NP_653188.2  BTB/POZ domain-containing protein 16 isoform b

      See identical proteins and their annotated locations for NP_653188.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
      Source sequence(s)
      AK058088, DB052430
      Consensus CDS
      CCDS31301.1
      UniProtKB/Swiss-Prot
      A6NM63, Q32M84, Q4VXL1, Q96LN0
      Related
      ENSP00000260723.4, ENST00000260723.6

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      122271296..122338159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539239.3 → XP_011537541.1  BTB/POZ domain-containing protein 16 isoform X1

    2. XM_011539241.3 → XP_011537543.1  BTB/POZ domain-containing protein 16 isoform X3

    3. XM_011539242.3 → XP_011537544.1  BTB/POZ domain-containing protein 16 isoform X4

    4. XM_011539240.3 → XP_011537542.1  BTB/POZ domain-containing protein 16 isoform X2

    5. XM_017015637.2 → XP_016871126.1  BTB/POZ domain-containing protein 16 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123167581..123234437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364705.1 → XP_054220680.1  BTB/POZ domain-containing protein 16 isoform X1

    2. XM_054364707.1 → XP_054220682.1  BTB/POZ domain-containing protein 16 isoform X3

    3. XM_054364708.1 → XP_054220683.1  BTB/POZ domain-containing protein 16 isoform X4

    4. XM_054364706.1 → XP_054220681.1  BTB/POZ domain-containing protein 16 isoform X2

    5. XM_054364704.1 → XP_054220679.1  BTB/POZ domain-containing protein 16 isoform X6

    6. XM_054364709.1 → XP_054220684.1  BTB/POZ domain-containing protein 16 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q32M84.2 GenPept UniProtKB/Swiss-Prot:Q32M84

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