DRC4

Chr 16AR

dynein regulatory complex subunit 4

Also known as: CILD33, GAS11, GAS8

NCBI Gene: 2622 ENSG00000141013 UniProt: O95995 OMIM: 605178

The DRC4 protein is a component of the nexin-dynein regulatory complex that regulates ciliary and flagellar motility and maintains axonemal integrity in both motile and primary cilia. Mutations cause primary ciliary dyskinesia, a condition affecting respiratory cilia function and other ciliated organs. Inheritance is autosomal recessive.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismAR2 OMIM phenotypes

Clinical Summary— DRC4

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Gene-Disease Validity (ClinGen)

primary ciliary dyskinesia 33 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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ClinVar Variants

21 unique Pathogenic / Likely Pathogenic· 139 VUS of 410 total submissions

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GeneReview available — DRC4

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

410 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14

Likely Pathogenic7

VUS139

Likely Benign180

Benign52

Conflicting8

Pathogenic

Likely Pathogenic

139

VUS

180

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	12	0	2	0	14
Likely Pathogenic	7	0	0	0	7
VUS	2	126	9	2	139
Likely Benign	0	9	80	91	180
Benign	0	5	38	9	52
Conflicting	—				8
Total	21	140	129	102	400

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

35 pathogenic / likely-pathogenic (of 64) ClinVar copy-number / structural variants overlap DRC4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →