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0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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BRWD1
bromodomain and WD repeat domain containing 1
Chromosome 21 Β· 21q22.2
NCBI Gene: 54014Ensembl: ENSG00000185658.15HGNC: HGNC:12760UniProt: Q9NSI6
53PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleolusmotile ciliumaxonemenucleusciliary dyskinesia, primary, 51primary ciliary dyskinesiaatrial fibrillationatrial flutter
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

bromodomain and WD repeat domain containing 1

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
ciliary dyskinesia, primary, 51Open Targets
0.39Weak
primary ciliary dyskinesiaOpen Targets
0.38Weak
atrial fibrillationOpen Targets
0.36Weak
atrial flutterOpen Targets
0.35Weak
male infertilityOpen Targets
0.31Weak
bronchiectasisOpen Targets
0.31Weak
Recurrent sinusitisOpen Targets
0.31Weak
situs inversusOpen Targets
0.31Weak
Situs inversus totalisOpen Targets
0.31Weak
Recurrent otitis mediaOpen Targets
0.30Weak
Abnormal thrombosisOpen Targets
0.28Weak
respiratory system diseaseOpen Targets
0.28Weak
primary ovarian insufficiencyOpen Targets
0.28Weak
allergic diseaseOpen Targets
0.28Weak
cardiac arrhythmiaOpen Targets
0.27Weak
osteoarthritisOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.26Weak
substance abuseOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.25Weak
smoking behaviorOpen Targets
0.23Weak
Ciliary dyskinesia, primary, 51UniProt
Pathogenic Variants2
NM_033656.4(BRWD1):c.656G>A (p.Arg219His)Likely pathogenic
Premature ovarian failure
β˜…β˜†β˜†β˜†2020β†’ Residue 219
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)Likely pathogenic
Male infertility;Recurrent otitis media;Situs inversus;Bronchiectasis;Recurrent sinusitis|Ciliary dyskinesia, primary, 51|Gastric cancer
β˜†β˜†β˜†β˜†2020β†’ Residue 1858
View on ClinVar β†—
Related Genes
BRWD3Shared pathway100%STAT5AProtein interaction95%SMARCA4Protein interaction78%H3C12Protein interaction75%H3C13Protein interaction75%SYNE3Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
94%
Heart
65%
Ovary
64%
Liver
54%
Lung
48%
Gene Interaction Network
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BRWD1BRWD3STAT5ASMARCA4H3C12H3C13SYNE3
PROTEIN STRUCTURE
Preparing viewer…
PDB3Q2E Β· 1.74 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.37 [0.30–0.45]
RankingsWhere BRWD1 stands among ~20K protein-coding genes
  • #8,398of 20,598
    Most Researched53
  • #4,425of 5,498
    Most Pathogenic Variants2
  • #2,482of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedBRWD1
Sources retrieved0 papers
Response timeβ€”