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DRC11

Chr 2

dynein regulatory complex subunit 11

Also known as: 4930465P12Rik, FAP82, IQCA, IQCA1

NCBI Gene: 79781 UniProt: Q86XH1

The encoded protein is a component of the nexin-dynein regulatory complex that regulates ciliary and flagellar motility by maintaining axoneme alignment and controlling microtubule sliding. Mutations cause primary ciliary dyskinesia, a disorder affecting the respiratory system, fertility, and often leading to organ laterality defects. Primary ciliary dyskinesia follows autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

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

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Mechanism

Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DRC11?content-type=application/json

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in DRC11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 47

1,045 rare PASS variants

Rare truncating (LoF)

1 in 910

181 rare PASS variants

Rare synonymous (reference)

1 in 78

387 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DRC11. 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 93	1 in 1,100
South Asian	~43k	1 in 40	1 in 370
Remaining (unassigned)	~30k	1 in 40	1 in 1,300
European (Finnish)	~27k	1 in 200	1 in 3,600
Admixed American	~22k	1 in 46	1 in 310
African / African American	~21k	1 in 39	1 in 420
East Asian	~20k	1 in 40	1 in 480
Ashkenazi Jewish	~13k	1 in 190	none seen
Middle Eastern	~2,884	1 in 52	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.