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    TERB2 telomere repeat binding bouquet formation protein 2 [ Homo sapiens (human) ]

    Gene ID: 145645, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TERB2provided by HGNC
    Official Full Name
    telomere repeat binding bouquet formation protein 2provided by HGNC
    Primary source
    HGNC:HGNC:28520
    See related
    Ensembl:ENSG00000167014 MIM:617131; AllianceGenome:HGNC:28520
    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
    SPGF59; C15orf43
    Summary
    Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within meiosis I; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 12.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See TERB2 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (44956687..44979229)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42764694..42787237)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45248885..45271427)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene telomere repeat binding bouquet formation protein 2 pseudogene Neighboring gene 5-azacytidine induced 2 pseudogene Neighboring gene RNA, U6 small nuclear 1108, pseudogene Neighboring gene RNA, U6 small nuclear 1332, pseudogene Neighboring gene 5-azacytidine induced 2 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr15:45264252-45264430 Neighboring gene MPRA-validated peak2324 silencer Neighboring gene RNA, U6 small nuclear 966, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9348 Neighboring gene RNA, U1 small nuclear 78, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:45316112-45316762 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:45317906-45318194 Neighboring gene Sharpr-MPRA regulatory region 12640 Neighboring gene sorbitol dehydrogenase Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta 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. Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. Salas-Huetos A, et al. Hum Genet, 2021 Jan. PMID 33211200, Free PMC Article
    2. Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1. Dunce JM, et al. Nat Commun, 2018 Dec 17. PMID 30559341, Free PMC Article
    3. MAJIN Links Telomeric DNA to the Nuclear Membrane by Exchanging Telomere Cap. Shibuya H, et al. Cell, 2015 Nov 19. PMID 26548954
    4. The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope. Wang Y, et al. Nat Commun, 2019 Feb 4. PMID 30718482, Free PMC Article
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
      Title: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
    2. The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope
      Title: The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope.
    3. complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate.
      Title: Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure 59
    MedGen: C5562034 OMIM: 619645 GeneReviews: Not available
    		not available

    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

    Clone Names

    • MGC33951

    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 double-strand break repair involved in meiotic recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic attachment of telomere to nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic attachment of telomere to nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic telomere clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptonemal complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome, telomeric region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    telomere repeats-binding bouquet formation protein 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_152448.3 → NP_689661.1  telomere repeats-binding bouquet formation protein 2

      See identical proteins and their annotated locations for NP_689661.1

      Status: VALIDATED

      Source sequence(s)
      AC090888, BC029537
      Consensus CDS
      CCDS10115.1
      UniProtKB/Swiss-Prot
      Q8NHR7
      Related
      ENSP00000340644.3, ENST00000340827.4
      Conserved Domains (1) summary
      pfam15101
      Location:2 → 205
      DUF4557; Domain of unknown function (DUF4557)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      44956687..44979229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521240.3 → XP_011519542.1  telomere repeats-binding bouquet formation protein 2 isoform X1

      Conserved Domains (1) summary
      pfam15101
      Location:2 → 116
      DUF4557; Domain of unknown function (DUF4557)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      42764694..42787237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377309.1 → XP_054233284.1  telomere repeats-binding bouquet formation protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHR7.1 GenPept UniProtKB/Swiss-Prot:Q8NHR7

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