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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C6orf89
chromosome 6 open reading frame 89
Chromosome 6 · 6p21.2
NCBI Gene: 221477Ensembl: ENSG00000198663.18HGNC: HGNC:21114UniProt: Q6UWU4
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatin remodelingwound healingpositive regulation of cell cyclepontocerebellar hypoplasia, type 14genetic disorderhemorrhagecomplication
✦AI Summary

C6orf89 encodes bombesin receptor-activated protein (BRAP), which exhibits histone deacetylase (HDAC) enhancer properties and produces three distinct protein isoforms with different subcellular localizations 1. The soluble isoform localizes to the nucleolus and integrates into ribosomal gene transcription machinery, while membrane isoforms localize to the Golgi and midbody 1. BRAP plays important roles in cell cycle progression and wound repair of bronchial epithelial cells 1. The protein regulates NF-κB transcriptional activity by enhancing HDAC activity, thereby modulating immune and inflammatory responses in airway epithelium 2. In kidney disease, BRAP contributes to cisplatin-induced acute kidney injury by promoting tubular cell apoptosis and necroptosis through regulation of SIRT2 protein degradation 3. BRAP deficiency attenuates renal fibrosis by suppressing epithelial-mesenchymal transition in tubular epithelial cells 4. The protein also influences inflammatory processes in skin, with BRAP deficiency altering psoriasis-like inflammation patterns through increased TSLP release from keratinocytes 5. Additionally, C6orf89 mutations can generate tumor-specific neoantigens in chr6 lymphocytic leukemia 6, and the gene is involved in oncogenic splicing events in acute lymphoblastic leukemia 7.

Sources cited
1
C6orf89 encodes BRAP with HDAC enhancer properties and produces three distinct protein isoforms with different subcellular localizations
PMID: 23460338
2
BRAP regulates NF-κB transcriptional activity by enhancing HDAC activity in bronchial epithelial cells
PMID: 26460487
3
BRAP contributes to cisplatin-induced acute kidney injury by promoting cell death through SIRT2 regulation
PMID: 35488871
4
BRAP deficiency attenuates renal fibrosis by suppressing epithelial-mesenchymal transition
PMID: 39155151
5
BRAP deficiency alters psoriasis-like inflammation through increased TSLP release from keratinocytes
PMID: 38169666
6
C6orf89 mutations can generate tumor-specific neoantigens in chronic lymphocytic leukemia
PMID: 24891321
7
C6orf89 is involved in oncogenic splicing events in acute lymphoblastic leukemia
PMID: 34699692
Disease Associationsⓘ20
pontocerebellar hypoplasia, type 14Open Targets
0.27Weak
genetic disorderOpen Targets
0.15Weak
hemorrhageOpen Targets
0.14Weak
complicationOpen Targets
0.12Weak
diverticular diseaseOpen Targets
0.03Suggestive
phototoxic dermatitisOpen Targets
0.02Suggestive
major depressive disorderOpen Targets
0.02Suggestive
spondyloarthropathyOpen Targets
0.02Suggestive
acute kidney injuryOpen Targets
0.01Suggestive
renal fibrosisOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Inflammatory abnormality of the skinOpen Targets
0.00Suggestive
pulmonary fibrosisOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BRS3Protein interaction81%HCFC1Shared pathway29%MSL1Shared pathway25%HDGFL1Shared pathway25%HIPK4Shared pathway25%HMGB4Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Brain
76%
Ovary
58%
Lung
47%
Liver
46%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
C6orf89BRS3HCFC1MSL1HDGFL1HIPK4HMGB4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6UWU4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.48–0.89]
RankingsWhere C6orf89 stands among ~20K protein-coding genes
  • #12,950of 20,598
    Most Researched25
  • #8,022of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedC6orf89
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Bombesin receptor-activated protein exacerbates cisplatin-induced AKI by regulating the degradation of SIRT2.
PMID: 35488871
Nephrol Dial Transplant · 2022
1.00
2
Attenuation of renal fibrosis in mice due to lack of bombesin receptor-activated protein homologue.
PMID: 39155151
Clin Exp Pharmacol Physiol · 2024
0.90
3
DNA crosslinking and recombination-activating genes 1/2 (RAG1/2) are required for oncogenic splicing in acute lymphoblastic leukemia.
PMID: 34699692
Cancer Commun (Lond) · 2021
0.80
4
Bombesin receptor-activated protein homolog deficiency altered the pattern of pathological changes of psoriasis - like skin lesion in mice.
PMID: 38169666
Int J Med Sci · 2024
0.70
5
Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.
PMID: 24891321
Blood · 2014
0.60