DRC4

Chr 16AR

dynein regulatory complex subunit 4

Also known as: CILD33, GAS11, GAS8

NCBI Gene: 2622UniProt: O95995

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]

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 33MIM #616726
AR
Ciliary dyskinesia, primary, 33MIM #616726
AR
472
ClinVar variants
27
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— DRC4
📋
ClinVar Variants
27 Pathogenic / Likely Pathogenic· 141 VUS of 472 total submissions
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DRC4?content-type=application/json&expand=1

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

472 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic8
VUS141
Likely Benign171
Benign43
Conflicting7
19
Pathogenic
8
Likely Pathogenic
141
VUS
171
Likely Benign
43
Benign
7
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
0
15
0
19
Likely Pathogenic
7
0
1
0
8
VUS
1
119
20
1
141
Likely Benign
0
5
76
90
171
Benign
0
1
37
5
43
Conflicting
—7
Total1212514996389

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

View in ClinVar →

Protein Context — Lollipop Plot

DRC4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

DRC4-related primary ciliary dyskinesia

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

OMIM

Ciliary dyskinesia, primary, 33

MIM #616726

Molecular basis of disorder known

Autosomal recessive

Ciliary dyskinesia, primary, 33

MIM #616726

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools