TANC1

Chr 2

tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1

Also known as: ROLSB, TANC

NCBI Gene: 85461 ENSG00000115183 UniProt: Q9C0D5 OMIM: 611397

Predicted to be involved in regulation of postsynapse organization. Predicted to act upstream of or within dendritic spine maintenance; myoblast fusion; and visual learning. Predicted to be located in several cellular components, including axon terminus; neuronal cell body; and postsynaptic density. Predicted to be active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

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: 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 TANC1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 32

2,119 rare PASS variants

Rare truncating (LoF)

1 in 1,400

205 rare PASS variants

Rare synonymous (reference)

1 in 48

918 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TANC1. 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 32	1 in 1,400
South Asian	~43k	1 in 30	1 in 830
Remaining (unassigned)	~30k	1 in 30	1 in 1,800
European (Finnish)	~27k	1 in 62	1 in 2,400
Admixed American	~22k	1 in 31	1 in 900
African / African American	~21k	1 in 25	1 in 1,700
East Asian	~20k	1 in 28	1 in 1,800
Ashkenazi Jewish	~13k	1 in 130	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 36	≈ 1 in 2,900

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): 23 of 25 coding exons well covered in gnomAD exomes; exons 5, 13 marginal. Genomes: all 25.? see exons ↓