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8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TERB2
telomere repeat binding bouquet formation protein 2
Chromosome 15 Β· 15q21.1
NCBI Gene: 145645Ensembl: ENSG00000167014.11HGNC: HGNC:28520UniProt: Q8NHR7
9PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear membraneprotein bindingnuclear envelopemeiotic attachment of telomere to nuclear envelopespermatogenic failure 59male infertility with azoospermia or oligozoospermia due to single gene mutationazoospermiaplacenta praevia
✦AI Summary

TERB2 (telomere repeat binding bouquet formation protein 2) is a meiosis-specific protein essential for proper chromosome 15 during spermatogenesis. As a core component of the MAJIN-TERB1-TERB2 meiotic telomere complex (MTC), TERB2 mediates attachment of telomeric DNA to the inner nuclear membrane, a process critical for homologous chromosome 15 and synapsis 1. The MTC functions through a hierarchical "telomere cap exchange" mechanism wherein TERB2 initially interacts with shelterin-bound telomeres, then facilitates release of the protective shelterin complex and establishment of direct telomeric DNA-membrane contacts 2. This telomere tethering enables rapid meiotic chromosome 15 necessary for recombination intermediate formation and proper chromosome 15 1. TERB2 dysfunction causes non-obstructive azoospermia (NOA), characterized by impaired spermatogenesis and absence of sperm production. Genetic studies identified compound heterozygous frameshift variants in TERB2 segregating with NOA in affected families, and screening of 1495 NOA patients revealed damaging variants in MTC genes (TERB1, TERB2, MAJIN) as a significant cause of spermatogenic failure 3. Computational analyses predict that specific missense mutations in TERB2 substantially reduce protein stability and disrupt protein-protein interactions 4. These findings establish TERB2 as essential for male fertility and identify MTC gene variants as clinically important in male infertility evaluation.

Sources cited
1
TERB2 is part of meiotic telomere complex that tethers telomeres to nuclear envelope and transmits cytoskeletal forces; structural details of MAJIN-TERB2-TERB1 binding and telomere attachment mechanism
PMID: 30559341
2
TERB2 functions in telomere cap exchange, taking over telomeric DNA from shelterin complex and forming direct link between telomeric DNA and inner nuclear membrane during meiosis
PMID: 26548954
3
TERB2 variants (compound heterozygous frameshift mutations) cause non-obstructive azoospermia; MTC gene variants identified as important cause of spermatogenic failure in both consanguineous and outbred NOA populations
PMID: 33211200
4
Missense mutations in TERB2 predicted to be deleterious, affecting protein structure, stability, and protein-protein interactions associated with male infertility
PMID: 35342767
5
TERB2 is part of TTM trimer critical for controlling telomeric activities including nuclear envelope attachment and bouquet formation during male meiosis
PMID: 38511802
6
Disruption of TERB1-TERB2 or TERB2-MAJIN interactions abolishes telomere attachment to nuclear envelope and causes aberrant homologous pairing and disordered synapsis
PMID: 30718482
Disease Associationsβ“˜21
spermatogenic failure 59Open Targets
0.47Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.38Weak
azoospermiaOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.22Weak
kidney failureOpen Targets
0.16Weak
anemiaOpen Targets
0.15Weak
Iron deficiency anemiaOpen Targets
0.15Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.12Weak
glaucomaOpen Targets
0.11Weak
urethral syndromeOpen Targets
0.10Suggestive
ciliopathyOpen Targets
0.10Suggestive
iris disorderOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
Spermatogenic failure 59UniProt
Pathogenic Variants3
NM_152448.3(TERB2):c.434G>A (p.Ser145Asn)Likely pathogenic
Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2022β†’ Residue 145
NM_152448.3(TERB2):c.457_458del (p.Thr153fs)Pathogenic
Spermatogenic failure 59
β˜†β˜†β˜†β˜†2025β†’ Residue 153
NM_152448.3(TERB2):c.544dup (p.Met182fs)Pathogenic
Spermatogenic failure 59
β˜†β˜†β˜†β˜†2025β†’ Residue 182
View on ClinVar β†—
Related Genes
ANKRD31Shared pathway100%SUN1Protein interaction100%TERB1Protein interaction97%TERF1Protein interaction86%SPDYAProtein interaction76%KASH5Protein interaction75%
Tissue Expression6 tissues
Liver
100%
Lung
50%
Ovary
50%
Brain
46%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TERB2ANKRD31SUN1TERB1TERF1SPDYAKASH5
PROTEIN STRUCTURE
Preparing viewer…
PDB6GNY Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.47–1.09]
RankingsWhere TERB2 stands among ~20K protein-coding genes
  • #17,472of 20,598
    Most Researched9
  • #4,173of 5,498
    Most Pathogenic Variants3
  • #11,091of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedTERB2
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
PMID: 33211200
Hum Genet Β· 2021
1.00
2
Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1.
PMID: 30559341
Nat Commun Β· 2018
0.88
3
Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility.
PMID: 35342767
Biomed Res Int Β· 2022
0.75
4
Telomeric function and regulation during male meiosis in mice and humans.
PMID: 38511802
Andrology Β· 2025
0.63
5
The TERB1 MYB domain suppresses telomere erosion in meiotic prophase I.
PMID: 35081355
Cell Rep Β· 2022
0.50