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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POC5
POC5 centriolar protein
Chromosome 5 · 5q13.3
NCBI Gene: 134359Ensembl: ENSG00000152359.16HGNC: HGNC:26658UniProt: Q8NA72
48PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
centrosomecentriolecentriole elongationnegative regulation of centriole elongationAbnormality of the skeletal systemobesitytype 2 diabetes mellitusSnoring
✦AI Summary

POC5 is a centriolar protein essential for centriole assembly and elongation 12. It functions as a negative regulator of centriole elongation 3 and acts as a core component of the inner centriolar scaffold, where it forms tetramers and interacts with POC1A to maintain centriole structural integrity 4. POC5 is critical for cilia formation and cell cycle progression 5. At the molecular level, POC5 localizes to the centriole lumen and is stabilized through protein-protein interactions with other scaffold components. The gene is estrogen-responsive in osteoblasts, regulated via estrogen receptor ERα binding to an estrogen response element in the POC5 promoter 5. Additionally, POC5 is protected from proteasomal degradation through the HDAC3-KDELR2 axis, linking its stability to cell cycle progression in cancer cells 6. Clinically, bi-allelic loss-of-function POC5 variants cause a syndromic ciliopathy characterized by rod-cone dystrophy, insulin-resistant diabetes mellitus, partial lipodystrophy, kidney disease, and muscle dysfunction 7. POC5 mutations are associated with adolescent idiopathic scoliosis with sex-specific estrogen-dependent effects 5. POC5 variants also correlate with metabolic traits including BMI and respiratory disease susceptibility 89, and rare fusions involving POC5 have been identified in head and neck carcinomas 10.

Sources cited
1
It functions as a negative regulator of centriole elongation and acts as a core component of the inner centriolar scaffold, where it forms tetramers and interacts with POC1A to maintain centriole structural integrity .
PMID: 37934472
2
It functions as a negative regulator of centriole elongation and acts as a core component of the inner centriolar scaffold, where it forms tetramers and interacts with POC1A to maintain centriole structural integrity .
PMID: 39543170
3
POC5 is critical for cilia formation and cell cycle progression .
PMID: 37239471
4
Additionally, POC5 is protected from proteasomal degradation through the HDAC3-KDELR2 axis, linking its stability to cell cycle progression in cancer cells .
PMID: 34146461
5
Clinically, bi-allelic loss-of-function POC5 variants cause a syndromic ciliopathy characterized by rod-cone dystrophy, insulin-resistant diabetes mellitus, partial lipodystrophy, kidney disease, and muscle dysfunction .
PMID: 40590205
6
POC5 variants also correlate with metabolic traits including BMI and respiratory disease susceptibility , , and rare fusions involving POC5 have been identified in head and neck carcinomas .
PMID: 39628352
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.56Moderate
obesityOpen Targets
0.49Moderate
type 2 diabetes mellitusOpen Targets
0.48Moderate
SnoringOpen Targets
0.48Moderate
migraine disorderOpen Targets
0.43Moderate
diabetes mellitusOpen Targets
0.43Moderate
metabolic syndromeOpen Targets
0.34Weak
syndromic retinitis pigmentosaOpen Targets
0.33Weak
overnutritionOpen Targets
0.33Weak
headache disorderOpen Targets
0.29Weak
atrial fibrillationOpen Targets
0.29Weak
complex regional pain syndromeOpen Targets
0.29Weak
sleep apneaOpen Targets
0.27Weak
polyarteritis nodosaOpen Targets
0.27Weak
smoking behaviorOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.26Weak
vertebral column disorderOpen Targets
0.25Weak
breast cancerOpen Targets
0.25Weak
heart diseaseOpen Targets
0.19Weak
agingOpen Targets
0.18Weak
Pathogenic Variants1
NM_001099271.2(POC5):c.1211C>T (p.Ser404Leu)Pathogenic
Scoliosis, isolated, susceptibility to, 1
★☆☆☆→ Residue 404
View on ClinVar ↗
Related Genes
DZANK1Shared pathway100%OLFM3Shared pathway100%SASS6Protein interaction100%FAM161AProtein interaction87%WDR90Protein interaction87%CEP120Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
75%
Brain
56%
Lung
44%
Heart
41%
Liver
39%
Gene Interaction Network
Click a node to explore
POC5DZANK1OLFM3SASS6FAM161AWDR90CEP120
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NA72
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.99LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.57–0.99]
RankingsWhere POC5 stands among ~20K protein-coding genes
  • #9,109of 20,598
    Most Researched48
  • #5,113of 5,498
    Most Pathogenic Variants1
  • #9,579of 17,882
    Most Constrained (LOEUF)0.99
Genes detectedPOC5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.
PMID: 37239471
Genes (Basel) · 2023
1.00
2
An interaction network of inner centriole proteins organised by POC1A-POC1B heterodimer crosslinks ensures centriolar integrity.
PMID: 39543170
Nat Commun · 2024
0.90
3
KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression.
PMID: 34146461
Cancer Commun (Lond) · 2021
0.80
4
Targeted RNA sequencing in diagnostically challenging head and neck carcinomas identifies novel MON2::STAT6, NFATC2::NUTM2B, POC5::RAF1, and NSD3::NCOA2 gene fusions.
PMID: 39628352
Histopathology · 2025
0.70
5
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
PMID: 40590205
Genet Med · 2025
0.60