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

Gene ID: 145645, updated on 5-Mar-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 be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 12.0) See more
Orthologs
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Genomic context

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Location:
15q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (44956687..44979229)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42764694..42787237)
105.20220307 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)

Genotypes

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_2023_10

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

Gene LinkOut

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