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    TBPL2 TATA-box binding protein like 2 [ Homo sapiens (human) ]

    Gene ID: 387332, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TBPL2provided by HGNC
    Official Full Name
    TATA-box binding protein like 2provided by HGNC
    Primary source
    HGNC:HGNC:19841
    See related
    Ensembl:ENSG00000182521 MIM:608964; AllianceGenome:HGNC:19841
    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
    TBP2; TRF3
    Summary
    Predicted to enable RNA polymerase II general transcription initiation factor activity. Predicted to be involved in DNA-templated transcription, initiation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q22.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (55414210..55440616, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (49619941..49646349, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (55880928..55907334, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene F-box protein 34 Neighboring gene autophagy related 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5783 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8433 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:55914403-55915602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5784 Neighboring gene ribosomal protein L7a pseudogene 4 Neighboring gene abl interactor 1 pseudogene 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
    • 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. A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration. Wang Y, et al. Clin Genet, 2021 Sep. PMID 33966269
    2. A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility. He WB, et al. J Genet Genomics, 2020 Dec 20. PMID 33541821
    3. TATA box-binding protein-related factor 3 drives the mesendoderm specification of human embryonic stem cells by globally interacting with the TATA box of key mesendodermal genes. Liang H, et al. Stem Cell Res Ther, 2020 May 24. PMID 32448362, Free PMC Article
    4. TBP2 gene may not be associated with primary ovarian insufficiency. Wang C, et al. Climacteric, 2016 Dec. PMID 27642674
    5. Switching of the core transcription machinery during myogenesis. Deato MD, et al. Genes Dev, 2007 Sep 1. PMID 17704303, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.
      Title: A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.
    2. A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility.
      Title: A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility.
    3. TATA box-binding protein-related factor 3 drives the mesendoderm specification of human embryonic stem cells by globally interacting with the TATA box of key mesendodermal genes.
      Title: TATA box-binding protein-related factor 3 drives the mesendoderm specification of human embryonic stem cells by globally interacting with the TATA box of key mesendodermal genes.
    4. study indicates that the TBP2 gene is not responsible for idiopathic primary ovarian insufficiency in the Chinese Han population
      Title: TBP2 gene may not be associated with primary ovarian insufficiency.
    5. 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.
    6. Here we report that differentiation of myoblast to myotubes involves the disruption of the canonical holo-TFIID and replacement by a novel TRF3/TAF3 (TBP-related factor 3/TATA-binding protein-associated factor 3) complex.
      Title: Switching of the core transcription machinery during myogenesis.
    7. TRF3 is a nuclear protein that is present in all human and mouse tissues and cell lines examined
      Title: TRF3, a TATA-box-binding protein-related factor, is vertebrate-specific and widely expressed.
    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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of TATA box binding protein like 2 (TBPL2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II general transcription initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA-templated transcription initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in female germ cell nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TATA box-binding protein-like 2
    Names
    TATA box-binding protein-like protein 2
    TATA box-binding protein-related factor 3
    TBP-like 2
    TBP-like protein 2
    TBP-related factor 3

    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_199047.3 → NP_950248.2  TATA box-binding protein-like 2

      Status: VALIDATED

      Source sequence(s)
      AL356801
      Consensus CDS
      CCDS9724.2
      UniProtKB/Swiss-Prot
      Q17RU8, Q6SJ96
      Related
      ENSP00000247219.6, ENST00000247219.6
      Conserved Domains (1) summary
      PLN00062
      Location:167 → 342
      PLN00062; TATA-box-binding protein; Provisional

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      55414210..55440616 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      49619941..49646349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6SJ96.2 GenPept UniProtKB/Swiss-Prot:Q6SJ96

    Gene LinkOut

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

    Chemical Information
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