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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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