TERB2

Chr 15AR

telomere repeat binding bouquet formation protein 2

Also known as: C15orf43, SPGF59

NCBI Gene: 145645 ENSG00000167014 UniProt: Q8NHR7 OMIM: 617131

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. Located in nuclear envelope. Is active in nuclear membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spermatogenic failure 59MIM #619645

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TERB2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 310

262 rare PASS variants

Rare truncating (LoF)

1 in 2,100

50 rare PASS variants

Rare synonymous (reference)

1 in 510

93 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TERB2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 260	1 in 2,100
South Asian	~43k	1 in 270	1 in 2,700
Remaining (unassigned)	~30k	1 in 260	1 in 4,900
European (Finnish)	~27k	1 in 2,200	≈ 1 in 8,800
Admixed American	~22k	1 in 240	1 in 1,400
African / African American	~21k	1 in 250	1 in 2,700
East Asian	~20k	1 in 200	1 in 1,800
Ashkenazi Jewish	~13k	1 in 2,600	1 in 1,700
Middle Eastern	~2,884	≈ 1 in 940	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.