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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CCDC91
coiled-coil domain containing 91
Chromosome 12 · 12p11.22
NCBI Gene: 55297Ensembl: ENSG00000123106.12HGNC: HGNC:24855UniProt: Q05D28
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatusGolgi to lysosome transporttrans-Golgi networkmembraneAbnormality of the skeletal systembreast cancerbreast carcinomaneurodegenerative disease
✦AI Summary

CCDC91 (coiled-coil domain containing 91) is a multifunctional protein primarily involved in intracellular membrane trafficking and bone development. The protein regulates membrane traffic through the trans-Golgi network and functions in cooperation with GGA proteins for sorting hydrolases to lysosomes, as supported by its cellular localization and functional studies 1. CCDC91 plays a critical role in bone biology, where genetic variants are associated with hip bone geometry, bone mineral density, and ossification disorders 23. A novel CCDC91 isoform functions as a competitive endogenous RNA, sequestering MIR890 to upregulate RUNX2 expression and promote osteogenic differentiation 4. Loss-of-function mutations in CCDC91 cause autosomal-dominant acrokeratoelastoidosis through impaired elastin transport, resulting in tropoelastin accumulation in the Golgi and abnormal extracellular aggregates 1. In disease contexts, CCDC91 shows oncogenic properties in hepatocellular carcinoma, where HBV integration upregulates its expression, leading to enhanced aerobic glycolysis through LDHA activation 5. The gene also serves as part of a T-cell-derived signature distinguishing SARS-CoV-2 infections from other respiratory viruses 6 and contributes to white matter microstructure regulation in the brain 7.

Sources cited
1
CCDC91 mutations cause acrokeratoelastoidosis through impaired elastin transport and Golgi function
PMID: 38627542
2
Genetic variants in CCDC91 are associated with hip bone geometry phenotypes
PMID: 30888730
3
CCDC91 is associated with diffuse idiopathic skeletal hyperostosis and bone mineral density
PMID: 37156767
4
A novel CCDC91 isoform acts as competitive endogenous RNA to regulate RUNX2 and osteogenic differentiation
PMID: 36990086
5
CCDC91 is oncogenic in hepatocellular carcinoma and promotes aerobic glycolysis through LDHA
PMID: 40683971
6
CCDC91 is part of a T-cell signature that distinguishes SARS-CoV-2 from other respiratory viruses
PMID: 39066192
7
CCDC91 expression is genetically correlated with white matter microstructure
PMID: 24736177
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
breast cancerOpen Targets
0.44Moderate
breast carcinomaOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
luminal A breast carcinomaOpen Targets
0.41Moderate
ossification of the posterior longitudinal ligament of the spineOpen Targets
0.38Weak
spinal stenosisOpen Targets
0.38Weak
punctate palmoplantar keratoderma type IIIOpen Targets
0.37Weak
smoking behaviorOpen Targets
0.37Weak
tooth diseaseOpen Targets
0.36Weak
triple-negative breast cancerOpen Targets
0.36Weak
endometrial cancerOpen Targets
0.35Weak
osteoarthritis, handOpen Targets
0.35Weak
response to xenobiotic stimulusOpen Targets
0.31Weak
rheumatoid arthritisOpen Targets
0.31Weak
facial morphologyOpen Targets
0.30Weak
poisoningOpen Targets
0.30Weak
Dental malocclusionOpen Targets
0.30Weak
breast neoplasmOpen Targets
0.30Weak
KyphosisOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GGA1Protein interaction99%TRAPPC3LShared pathway25%GOLGA5Shared pathway25%M6PRShared pathway20%TRAPPC6BShared pathway20%TRAPPC6AShared pathway20%
Tissue Expression6 tissues
Heart
100%
Brain
54%
Bone Marrow
30%
Ovary
27%
Liver
24%
Lung
20%
Gene Interaction Network
Click a node to explore
CCDC91GGA1TRAPPC3LGOLGA5M6PRTRAPPC6BTRAPPC6A
PROTEIN STRUCTURE
Preparing viewer…
PDB1OM9 · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.06Tolerant
Observed/Expected LoF0.55 [0.30–1.08]
RankingsWhere CCDC91 stands among ~20K protein-coding genes
  • #11,301of 20,598
    Most Researched33
  • #11,027of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCCDC91
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HBV DNA integration gene CCDC91 is oncogenic and a potential therapeutic target for hepatocellular carcinoma.
PMID: 40683971
Commun Biol · 2025
1.00
2
Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry.
PMID: 30888730
J Bone Miner Res · 2019
0.90
3
A T-Cell-Derived 3-Gene Signature Distinguishes SARS-CoV-2 from Common Respiratory Viruses.
PMID: 39066192
Viruses · 2024
0.80
4
Common genetic variants and gene expression associated with white matter microstructure in the human brain.
PMID: 24736177
Neuroimage · 2014
0.70
5
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
PMID: 38627542
Eur J Hum Genet · 2024
0.60