DRC9

Chr 3

dynein regulatory complex subunit 9

Also known as: CFAP122, IQCG

NCBI Gene: 84223 ENSG00000114473 UniProt: Q9H095 OMIM: 612477

Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

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

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Mechanism

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in DRC9?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 98

543 rare PASS variants

Rare truncating (LoF)

1 in 1,300

133 rare PASS variants

Rare synonymous (reference)

1 in 380

193 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DRC9. 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 120	1 in 1,400
South Asian	~43k	1 in 79	1 in 770
Remaining (unassigned)	~30k	1 in 74	1 in 850
European (Finnish)	~27k	1 in 270	1 in 3,300
Admixed American	~22k	1 in 86	1 in 740
African / African American	~21k	1 in 130	1 in 770
East Asian	~20k	1 in 150	1 in 1,300
Ashkenazi Jewish	~13k	1 in 570	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 88	1 in 480

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): 7 of 10 coding exons well covered in gnomAD exomes; exons 3, 7, 11 marginal. Genomes: all 10.? see exons ↓