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    BTBD18 BTB domain containing 18 [ Homo sapiens (human) ]

    Gene ID: 643376, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BTBD18provided by HGNC
    Official Full Name
    BTB domain containing 18provided by HGNC
    Primary source
    HGNC:HGNC:37214
    See related
    Ensembl:ENSG00000233436 AllianceGenome:HGNC:37214
    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
    Predicted to be involved in male meiosis I; piRNA transcription; and spermatogenesis. Predicted to act upstream of with a positive effect on retrotransposon silencing. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 1.6), adrenal (RPKM 1.4) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD18 in Genome Data Viewer
    Location:
    11q12.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (57743514..57753166, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (57693844..57703498, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57510986..57519291, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:57471607-57472806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3357 Neighboring gene TMX2-CTNND1 readthrough (NMD candidate) Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:57483025-57483535 Neighboring gene mediator complex subunit 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492459-57492960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57492961-57493460 Neighboring gene peptidylprolyl isomerase A pseudogene 42 Neighboring gene thioredoxin related transmembrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4731 Neighboring gene selenoprotein H Neighboring gene catenin delta 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:57546031-57546233 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57546189-57547075 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:57547076-57547961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:57551728-57552228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4732 Neighboring gene Sharpr-MPRA regulatory region 6223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4733 Neighboring gene olfactory receptor family 5 subfamily BA member 1 pseudogene

    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. BTBD18: A novel MLL partner gene in an infant with acute lymphoblastic leukemia and inv(11)(q13;q23). Alonso CN, et al. Leuk Res, 2010 Nov. PMID 20598370
    2. BTBD18 Regulates a Subset of piRNA-Generating Loci through Transcription Elongation in Mice. Zhou L, et al. Dev Cell, 2017 Mar 13. PMID 28292424
    3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    See all (10) 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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male meiosis I ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in piRNA transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription elongation by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_positive_effect transposable element silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 18
    Names
    BTB (POZ) domain containing 18
    hCG1730474

    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_001145101.3 → NP_001138573.1  BTB/POZ domain-containing protein 18

      See identical proteins and their annotated locations for NP_001138573.1

      Status: VALIDATED

      Source sequence(s)
      AP001931
      Consensus CDS
      CCDS44603.1
      UniProtKB/Swiss-Prot
      B2RXH4
      Related
      ENSP00000394472.1, ENST00000422652.6
      Conserved Domains (1) summary
      pfam00651
      Location:24 → 120
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      57743514..57753166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018128.2 → XP_016873617.1  BTB/POZ domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH4
      Conserved Domains (1) summary
      pfam00651
      Location:24 → 120
      BTB; BTB/POZ domain

    2. XM_047427405.1 → XP_047283361.1  BTB/POZ domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH4
      Related
      ENSP00000432341.2, ENST00000527995.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      57693844..57703498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369643.1 → XP_054225618.1  BTB/POZ domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH4

    2. XM_054369642.1 → XP_054225617.1  BTB/POZ domain-containing protein 18 isoform X1

      UniProtKB/Swiss-Prot
      B2RXH4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RXH4.1 GenPept UniProtKB/Swiss-Prot:B2RXH4

    Gene LinkOut

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

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