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    BTBD2 BTB domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 55643, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BTBD2provided by HGNC
    Official Full Name
    BTB domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:15504
    See related
    Ensembl:ENSG00000133243 MIM:608531; AllianceGenome:HGNC:15504
    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
    Summary
    The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 26.1), kidney (RPKM 19.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTBD2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1985448..2015714, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1957946..1988205, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1985447..2015713, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1946998-1947718 Neighboring gene casein kinase 1 gamma 2 Neighboring gene CSNK1G2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1954929-1955880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1979763-1980263 Neighboring gene uncharacterized LOC124904610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1993311-1993811 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2012303-2012494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9758 Neighboring gene uncharacterized LOC107985278 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:2028556-2029190 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2035637-2036137 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2037698-2038472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2046519-2047019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2047523-2048180 Neighboring gene MAPK interacting serine/threonine kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2048181-2048837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2049495-2050151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9761

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Gene and peptide analyses of newly defined lung cancer antigens recognized by HLA-A2402-restricted tumor-specific cytotoxic T lymphocytes. Yamada A, et al. Cancer Res, 2003 Jun 1. PMID 12782588
    2. Characterization of BTBD1 and BTBD2, two similar BTB-domain-containing Kelch-like proteins that interact with Topoisomerase I. Xu L, et al. BMC Genomics, 2002. PMID 11818025, Free PMC Article
    3. Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival. Liu Y, et al. J Clin Oncol, 2010 May 10. PMID 20368557, Free PMC Article
    4. Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection. Khurana B, et al. Virol J, 2010 Nov 20. PMID 21092135, Free PMC Article
    5. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. Carim-Todd L, et al. Gene, 2001 Jan 10. PMID 11179693

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction of BTBD1 and BTBD2 with TOP1 requires TOP1 residues 236 and 237, the same residues required to enhance the infectivity of progeny virions when TOP1 is expressed in African Green Monkey producer cells.
      Title: Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
    3. Polymorphisms in the LIG4, BTBD2, HMGA2, and RTEL1 genes, which are involved in the double-strand break repair pathway, are associated with glioblastoma multiforme survival.
      Title: Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.
    4. subcellular colocalization of BTBD1 and BTBD2 to cytoplasmic bodies; TRIM5delta colocalized with BTBD1/2 and appeared to serve as a scaffold for the assembly of endogenous BTBD1/2 proteins
      Title: BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.
    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

    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 neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 2
    Names
    BTB (POZ) domain containing 2

    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_017797.4 → NP_060267.2  BTB/POZ domain-containing protein 2

      See identical proteins and their annotated locations for NP_060267.2

      Status: REVIEWED

      Source sequence(s)
      AC004678, AF355797, BC000564, BC008035, BU849231
      Consensus CDS
      CCDS12078.1
      UniProtKB/Swiss-Prot
      O60418, O75248, Q4VBZ1, Q6IAC5, Q7Z5W0, Q96SX8, Q9BX70, Q9NPS1, Q9NX81
      Related
      ENSP00000255608.3, ENST00000255608.9
      Conserved Domains (4) summary
      smart00225
      Location:118 → 217
      BTB; Broad-Complex, Tramtrack and Bric a brac
      smart00875
      Location:229 → 328
      BACK; BTB And C-terminal Kelch
      pfam00651
      Location:110 → 214
      BTB; BTB/POZ domain
      pfam08005
      Location:376 → 523
      PHR; PHR 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1985448..2015714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439068.1 → XP_047295024.1  BTB/POZ domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6NT96

    2. XM_047439065.1 → XP_047295021.1  BTB/POZ domain-containing protein 2 isoform X1

    3. XM_047439067.1 → XP_047295023.1  BTB/POZ domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6NT96

    4. XM_047439066.1 → XP_047295022.1  BTB/POZ domain-containing protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1957946..1988205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321405.1 → XP_054177380.1  BTB/POZ domain-containing protein 2 isoform X1

    2. XM_054321407.1 → XP_054177382.1  BTB/POZ domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6NT96

    3. XM_054321406.1 → XP_054177381.1  BTB/POZ domain-containing protein 2 isoform X2

    4. XM_054321408.1 → XP_054177383.1  BTB/POZ domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6NT96
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BX70.1 GenPept UniProtKB/Swiss-Prot:Q9BX70

    Gene LinkOut

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