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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CCDC125
coiled-coil domain containing 125
Chromosome 5 Β· 5q13.2
NCBI Gene: 202243Ensembl: ENSG00000183323.14HGNC: HGNC:28924UniProt: B4DSR1
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmidentical protein bindingnegative regulation of Rho protein signal transductionactivation of GTPase activityneurodegenerative diseaseage-related macular degenerationX-linked retinal dysplasiaFamilial exudative vitreoretinopathy
✦AI Summary

Based on limited published evidence, CCDC125 (coiled-coil domain containing 125) regulates cell migration and motility through modulation of RhoGTPase signaling. UniProt annotations indicate roles in GTPase activation and negative regulation of Rho protein signal transduction and cell motility. CCDC125 expression in immune tissues (thymus, spleen, bone marrow) suppresses cell motility by deregulating RhoA, Rac1, and cdc42 activity 1. In gastric cancer, CCDC125 is significantly downregulated compared to normal tissue 2, suggesting potential involvement in cancer-related cell migration processes.

Sources cited
1
CCDC125 acts as a regulator of cell motility through RhoA, Rac1, and cdc42 signaling and is expressed in immune tissues
PMID: 19787194
2
CCDC125 is significantly downregulated in human gastric cancer tissues compared to normal controls
PMID: 28374495
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.22Weak
age-related macular degenerationOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
age related macular degeneration 11Open Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.06Suggestive
age related macular degeneration 4Open Targets
0.06Suggestive
age related macular degeneration 6Open Targets
0.06Suggestive
age related macular degeneration 7Open Targets
0.06Suggestive
coloboma of maculaOpen Targets
0.04Suggestive
X-linked retinoschisisOpen Targets
0.04Suggestive
coloboma of optic nerveOpen Targets
0.04Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.04Suggestive
Senior-Loken syndrome 7Open Targets
0.04Suggestive
Sensorineural hearing impairmentOpen Targets
0.03Suggestive
myopia 2, autosomal dominantOpen Targets
0.03Suggestive
myopia 25, autosomal dominantOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ARHGAP42Shared pathway25%RALGAPA2Shared pathway20%RALGAPBShared pathway20%SPOCK3Shared pathway20%PEAK3Shared pathway17%SCAIShared pathway17%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
61%
Brain
27%
Lung
17%
Ovary
16%
Heart
12%
Gene Interaction Network
Click a node to explore
CCDC125ARHGAP42RALGAPA2RALGAPBSPOCK3PEAK3SCAI
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q2HJ12
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.48–0.97]
RankingsWhere CCDC125 stands among ~20K protein-coding genes
  • #17,553of 20,598
    Most Researched8
  • #9,211of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedCCDC125
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Role of Kenae/CCDC125 in cell motility through the deregulation of RhoGTPase.
PMID: 19787194
Int J Mol Med Β· 2009
1.00
2
Genome-wide expression profiling and bioinformatics analysis of deregulated genes in human gastric cancer tissue after gastroscopy.
PMID: 28374495
Asia Pac J Clin Oncol Β· 2018
0.50