TBL2

Chr 7

transducin beta like 2

Also known as: WBSCR13, WS-betaTRP

NCBI Gene: 26608 ENSG00000106638 UniProt: Q9Y4P3 OMIM: 605842

The protein is a member of the beta-transducin family involved in intracellular signaling pathways. TBL2 is deleted as part of the multigene deletion at 7q11.23 that causes Williams-Beuren syndrome, a developmental disorder with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: Service overloaded

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TBL2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

558 rare PASS variants

Rare truncating (LoF)

1 in 2,500

84 rare PASS variants

Rare synonymous (reference)

1 in 230

259 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TBL2. 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 160	1 in 3,000
South Asian	~43k	1 in 68	1 in 2,000
Remaining (unassigned)	~30k	1 in 120	1 in 780
European (Finnish)	~27k	1 in 340	≈ 1 in 8,800
Admixed American	~22k	1 in 110	1 in 1,100
African / African American	~21k	1 in 75	1 in 2,700
East Asian	~20k	1 in 100	1 in 1,300
Ashkenazi Jewish	~13k	1 in 590	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 120	≈ 1 in 700

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.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓