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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CCZ1B
CCZ1B vacuolar protein trafficking and biogenesis associated
Chromosome 7 Β· 7p22.1
NCBI Gene: 221960Ensembl: ENSG00000122674.13HGNC: HGNC:21691UniProt: P86790
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityvacuolar transportvesicle-mediated transportMon1-Ccz1 complexAbnormality of the skeletal systemneurodegenerative diseaseactinic keratosisdiabetic ketoacidosis
✦AI Summary

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CCZ1B vacuolar protein trafficking and biogenesis associated

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.32Weak
actinic keratosisOpen Targets
0.17Weak
diabetic ketoacidosisOpen Targets
0.17Weak
hydronephrosisOpen Targets
0.11Weak
refractive errorOpen Targets
0.11Weak
Grade III Prostatic Intraepithelial NeoplasiaOpen Targets
0.10Weak
hypertensionOpen Targets
0.04Suggestive
essential hypertensionOpen Targets
0.03Suggestive
infectious meningitisOpen Targets
0.03Suggestive
spondylosisOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.02Suggestive
smoking initiationOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
insomniaOpen Targets
0.02Suggestive
metabolic syndromeOpen Targets
0.02Suggestive
paraplegiaOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RAB7AProtein interaction99%MON1BProtein interaction99%RMC1Protein interaction99%MON1AProtein interaction99%CCZ1Protein interaction97%TGFBRAP1Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Lung
43%
Ovary
41%
Liver
36%
Bone Marrow
35%
Heart
12%
Gene Interaction Network
Click a node to explore
CCZ1BRAB7AMON1BRMC1MON1ACCZ1TGFBRAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB9L0D Β· 3.41 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.20Tolerant
Observed/Expected LoF0.42 [0.28–0.68]
RankingsWhere CCZ1B stands among ~20K protein-coding genes
  • #13,384of 20,598
    Most Researched23
  • #4,996of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedCCZ1B
Sources retrieved0 papers
Response timeβ€”