POC5
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Also known as FLJ35779MGC120442MGC120443MGC120444hPOC5
Summary
POC5 (POC5 centriolar protein, HGNC:26658) is a protein-coding gene on chromosome 5q13.3, encoding Centrosomal protein POC5 (Q8NA72). Essential for the assembly of the distal half of centrioles, required for centriole elongation.
Involved in centriole elongation and negative regulation of centriole elongation. Located in centriole and centrosome.
Source: NCBI Gene 134359 — RefSeq curated summary.
At a glance
- Gene–disease (curated): ciliopathy (Strong, GenCC) — +2 more curated relationships
- GWAS associations: 58
- Clinical variants (ClinVar): 401 total — 1 pathogenic
- Phenotypes (HPO): 2
- MANE Select transcript:
NM_001099271
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26658 |
| Approved symbol | POC5 |
| Name | POC5 centriolar protein |
| Location | 5q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5 |
| Ensembl gene | ENSG00000152359 |
| Ensembl biotype | protein_coding |
| OMIM | 617880 |
| Entrez | 134359 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 12 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000357564, ENST00000428202, ENST00000446329, ENST00000502826, ENST00000503521, ENST00000503835, ENST00000504862, ENST00000506164, ENST00000507421, ENST00000508467, ENST00000510798, ENST00000512125, ENST00000514838, ENST00000515285, ENST00000904656, ENST00000904657, ENST00000930834, ENST00000930835, ENST00000930836
RefSeq mRNA: 2 — MANE Select: NM_001099271
NM_001099271, NM_152408
CCDS: CCDS47236, CCDS47237
Canonical transcript exons
ENST00000428202 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001004832 | 75677774 | 75677950 |
| ENSE00001004834 | 75690383 | 75690562 |
| ENSE00001004835 | 75685207 | 75685484 |
| ENSE00001004837 | 75689012 | 75689165 |
| ENSE00001663438 | 75692396 | 75692500 |
| ENSE00002026374 | 75674124 | 75674578 |
| ENSE00002080052 | 75717306 | 75717437 |
| ENSE00003487925 | 75694655 | 75694831 |
| ENSE00003508537 | 75707737 | 75707875 |
| ENSE00003521620 | 75702605 | 75702810 |
| ENSE00003560151 | 75712854 | 75712951 |
| ENSE00003586083 | 75705704 | 75705787 |
Expression profiles
Bgee: expression breadth ubiquitous, 224 present calls, max score 94.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3272 / max 159.4089, expressed in 1762 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62141 | 14.3047 | 1762 |
| 62140 | 0.0224 | 3 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 94.12 | gold quality |
| oocyte | CL:0000023 | 94.06 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.77 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.78 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.42 | gold quality |
| right uterine tube | UBERON:0001302 | 87.36 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.08 | gold quality |
| right testis | UBERON:0004534 | 84.73 | gold quality |
| sperm | CL:0000019 | 84.71 | gold quality |
| left testis | UBERON:0004533 | 84.58 | gold quality |
| testis | UBERON:0000473 | 84.10 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 83.77 | gold quality |
| monocyte | CL:0000576 | 83.71 | gold quality |
| leukocyte | CL:0000738 | 83.60 | gold quality |
| granulocyte | CL:0000094 | 83.42 | gold quality |
| ventricular zone | UBERON:0003053 | 83.30 | gold quality |
| right ovary | UBERON:0002118 | 82.12 | gold quality |
| spleen | UBERON:0002106 | 81.87 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.85 | gold quality |
| left ovary | UBERON:0002119 | 81.62 | gold quality |
| vermiform appendix | UBERON:0001154 | 81.52 | gold quality |
| ileal mucosa | UBERON:0000331 | 81.42 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 81.18 | gold quality |
| body of uterus | UBERON:0009853 | 81.15 | gold quality |
| lymph node | UBERON:0000029 | 81.13 | gold quality |
| endocervix | UBERON:0000458 | 80.66 | gold quality |
| tibialis anterior | UBERON:0001385 | 80.54 | silver quality |
| body of pancreas | UBERON:0001150 | 80.33 | gold quality |
| tendon | UBERON:0000043 | 80.31 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.20 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6386 | no | 476.75 |
| E-ANND-3 | no | 3.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
23 targeting POC5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-330-3P | 99.41 | 69.95 | 2521 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-6877-3P | 98.98 | 65.83 | 560 |
| HSA-MIR-6819-3P | 98.95 | 65.57 | 572 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
| HSA-MIR-643 | 97.35 | 67.91 | 805 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-3667-5P | 97.16 | 64.87 | 591 |
| HSA-MIR-7109-3P | 94.23 | 67.19 | 743 |
| HSA-MIR-4732-5P | 90.07 | 64.77 | 412 |
Literature-anchored findings (GeneRIF, showing 9)
- hPOC5, a conserved centrin-binding protein that contains Sfi1p-like repeats is characterized. (PMID:19349582)
- Data indicate that overexpression of the centrin interactor POC5 leads to the assembly of linear, centrin-dependent structures. (PMID:23844208)
- Mutations in the POC5 gene contribute to the occurrence of idiopathic scoliosis. (PMID:25642776)
- Depletion of CEP295 blocks the incorporation of POC5 and POC1B into the distal portion of centrioles and suppresses the post-translational modification of centriolar microtubules . Our study thus uncovers a new role for CEP295 during centriole elongation. (PMID:27185865)
- Common variant rs6892146 of POC5 is associated with the development of adolescent idiopathic scoliosis in the Chinese population. (PMID:29189569)
- The findings demonstrate that Poc5 is important for normal retinal development and function. Altogether, this study presents POC5 as a novel gene involved autosomal recessively inherited RP, and strengthens the hypothesis that mutations in centriolar proteins are important cause of retinal dystrophies. (PMID:29272404)
- POC5 mutation is associated with impairment of cell cycle, cilia length and centrosome protein interactions in Adolescent idiopathic scoliosis. (PMID:30845169)
- Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort. (PMID:34356048)
- Differential Regulation of POC5 by ERalpha in Human Normal and Scoliotic Cells. (PMID:37239471)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Poc5 | ENSMUSG00000021671 |
| rattus_norvegicus | Poc5 | ENSRNOG00000018193 |
Protein
Protein identifiers
Centrosomal protein POC5 — Q8NA72 (reviewed: Q8NA72)
Alternative names: Protein of centriole 5
All UniProt accessions (6): Q8NA72, D6RBC1, D6RDG4, D6REA5, D6RIH2, D6RJ06
UniProt curated annotations — full annotation on UniProt →
Function. Essential for the assembly of the distal half of centrioles, required for centriole elongation. Acts as a negative regulator of centriole elongation.
Subunit / interactions. Interacts with CETN2 and CETN3. Forms a microtubule-associated complex with POC1B, CETN2 and FAM161A. Interacts with CCDC15.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole.
Post-translational modifications. Hyperphosphorylated during recruitment to procentrioles in G2/M phase.
Similarity. Belongs to the POC5 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NA72-1 | 1 | yes |
| Q8NA72-2 | 2 | |
| Q8NA72-3 | 3 |
RefSeq proteins (2): NP_001092741, NP_689621 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR033351 | POC5 | Family |
UniProt features (23 total): modified residue 4, repeat 3, splice variant 3, sequence variant 3, region of interest 3, compositionally biased region 2, sequence conflict 2, coiled-coil region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NA72-F1 | 65.76 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 105, 109, 538, 564
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 132 (showing top):
GOBP_NEUROGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_CENTRIOLE_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_PHOTORECEPTOR_CELL_DEVELOPMENT, GOBP_ORGANELLE_ASSEMBLY, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION, FISCHER_DREAM_TARGETS, GOCC_NEURON_PROJECTION, GOBP_SENSORY_ORGAN_DEVELOPMENT
GO Biological Process (3): eye photoreceptor cell development (GO:0042462), centriole elongation (GO:0061511), negative regulation of centriole elongation (GO:1903723)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): centrosome (GO:0005813), centriole (GO:0005814), photoreceptor connecting cilium (GO:0032391), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| microtubule organizing center | 2 |
| intracellular membraneless organelle | 2 |
| eye photoreceptor cell differentiation | 1 |
| photoreceptor cell development | 1 |
| centriole replication | 1 |
| cell cycle process | 1 |
| negative regulation of cell cycle process | 1 |
| centriole elongation | 1 |
| regulation of centriole elongation | 1 |
| binding | 1 |
| centriole | 1 |
| ciliary transition zone | 1 |
| photoreceptor cell cilium | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
961 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POC5 | POC1B | Q8TC44 | 961 |
| POC5 | FAM161A | Q3B820 | 913 |
| POC5 | WDR90 | Q96KV7 | 871 |
| POC5 | CETN2 | P41208 | 776 |
| POC5 | CEP135 | Q66GS9 | 755 |
| POC5 | CPAP | Q9HC77 | 729 |
| POC5 | SASS6 | Q6UVJ0 | 724 |
| POC5 | CEP120 | Q8N960 | 720 |
| POC5 | CCP110 | O43303 | 711 |
| POC5 | CETN1 | Q12798 | 709 |
| POC5 | SPICE1 | Q8N0Z3 | 705 |
| POC5 | SFI1 | A8K8P3 | 694 |
| POC5 | CNTROB | Q8N137 | 657 |
| POC5 | CEP295 | Q9C0D2 | 653 |
| POC5 | RTTN | Q86VV8 | 650 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POC5 | CETN3 | psi-mi:“MI:0915”(physical association) | 0.920 |
| POC5 | CETN2 | psi-mi:“MI:0915”(physical association) | 0.920 |
| CETN2 | POC5 | psi-mi:“MI:0915”(physical association) | 0.920 |
| CETN3 | POC5 | psi-mi:“MI:0915”(physical association) | 0.920 |
| POC5 | CETN3 | psi-mi:“MI:0914”(association) | 0.920 |
| CETN1 | POC5 | psi-mi:“MI:0915”(physical association) | 0.850 |
| POC5 | CETN1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| POC5 | FAM161A | psi-mi:“MI:0915”(physical association) | 0.800 |
| FAM161A | POC5 | psi-mi:“MI:0915”(physical association) | 0.800 |
| CETN2 | SFI1 | psi-mi:“MI:0914”(association) | 0.740 |
| CETN1 | SFI1 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (130): POC5 (Two-hybrid), POC5 (Two-hybrid), POC5 (Two-hybrid), POC5 (Two-hybrid), POC5 (Proximity Label-MS), POC5 (Proximity Label-MS), ABCE1 (Proximity Label-MS), AGK (Proximity Label-MS), AKIP1 (Proximity Label-MS), ALMS1 (Proximity Label-MS), ATAD3A (Proximity Label-MS), ATP5L (Proximity Label-MS), CEP131 (Proximity Label-MS), CCDC138 (Proximity Label-MS), CCDC14 (Proximity Label-MS)
ESM2 similar proteins: A0PJP4, A2AHJ4, A4IIZ9, D3YZP9, F4HRI2, F4HRV8, I6PL68, O09000, O75665, O94967, P49140, P51948, P70365, Q0IHE5, Q15788, Q16204, Q17QG3, Q2QLI6, Q3LGD4, Q3SYW5, Q4PJW2, Q4R3X1, Q4R8G4, Q4V891, Q5R8Q4, Q5RD40, Q5RKN3, Q5ZKF4, Q5ZLY0, Q62739, Q653N3, Q66IJ0, Q68FY1, Q86Z20, Q8CFE5, Q8CGF6, Q8L7S4, Q8NA72, Q8NFH5, Q8R4R6
Diamond homologs: Q4R8G4, Q4V891, Q6DFB7, Q8NA72, Q9DBS8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 30 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 5 | 39.6× | 2e-05 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 5 | 39.6× | 2e-05 |
| AURKA Activation by TPX2 | 5 | 38.1× | 2e-05 |
| Recruitment of mitotic centrosome proteins and complexes | 5 | 34.0× | 2e-05 |
| Regulation of PLK1 Activity at G2/M Transition | 5 | 31.7× | 2e-05 |
| Recruitment of NuMA to mitotic centrosomes | 5 | 29.1× | 3e-05 |
| Anchoring of the basal body to the plasma membrane | 5 | 28.3× | 3e-05 |
| Cell Cycle, Mitotic | 5 | 12.1× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| microtubule cytoskeleton organization | 5 | 23.3× | 3e-04 |
| cilium assembly | 7 | 19.8× | 1e-05 |
| cell division | 6 | 10.7× | 8e-04 |
| protein transport | 5 | 8.4× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
401 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 245 |
| Likely benign | 110 |
| Benign | 22 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3899921 | NM_001099271.2(POC5):c.1211C>T (p.Ser404Leu) | Pathogenic |
SpliceAI
2604 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:75674577:TG:T | acceptor_gain | 1.0000 |
| 5:75677882:T:TA | donor_gain | 1.0000 |
| 5:75677947:CATA:C | acceptor_gain | 1.0000 |
| 5:75677949:TA:T | acceptor_gain | 1.0000 |
| 5:75677951:C:CC | acceptor_gain | 1.0000 |
| 5:75689007:CTAA:C | donor_loss | 1.0000 |
| 5:75689008:TAA:T | donor_loss | 1.0000 |
| 5:75689009:AAC:A | donor_loss | 1.0000 |
| 5:75689010:ACC:A | donor_loss | 1.0000 |
| 5:75689011:C:CG | donor_loss | 1.0000 |
| 5:75689011:CCTG:C | donor_gain | 1.0000 |
| 5:75689065:ACACC:A | donor_gain | 1.0000 |
| 5:75689066:CACCC:C | donor_gain | 1.0000 |
| 5:75689161:GATAA:G | acceptor_gain | 1.0000 |
| 5:75689162:ATAA:A | acceptor_gain | 1.0000 |
| 5:75689163:TAA:T | acceptor_gain | 1.0000 |
| 5:75689164:AA:A | acceptor_gain | 1.0000 |
| 5:75689164:AACTA:A | acceptor_loss | 1.0000 |
| 5:75689165:ACTAA:A | acceptor_loss | 1.0000 |
| 5:75689166:C:CC | acceptor_gain | 1.0000 |
| 5:75689166:CTA:C | acceptor_loss | 1.0000 |
| 5:75689167:T:G | acceptor_loss | 1.0000 |
| 5:75689171:A:AC | acceptor_gain | 1.0000 |
| 5:75690379:TTA:T | donor_loss | 1.0000 |
| 5:75690380:TA:T | donor_loss | 1.0000 |
| 5:75690381:A:AC | donor_gain | 1.0000 |
| 5:75690381:AC:A | donor_gain | 1.0000 |
| 5:75690382:C:CT | donor_gain | 1.0000 |
| 5:75690382:CC:C | donor_gain | 1.0000 |
| 5:75690382:CCA:C | donor_gain | 1.0000 |
AlphaMissense
3759 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:75689050:A:G | L364P | 0.999 |
| 5:75689052:A:C | N363K | 0.999 |
| 5:75689052:A:T | N363K | 0.999 |
| 5:75689056:A:G | L362S | 0.999 |
| 5:75689069:C:G | G358R | 0.999 |
| 5:75689073:C:A | M356I | 0.999 |
| 5:75689073:C:G | M356I | 0.999 |
| 5:75689073:C:T | M356I | 0.999 |
| 5:75689074:A:G | M356T | 0.999 |
| 5:75689077:A:G | F355S | 0.999 |
| 5:75689045:C:G | A366P | 0.998 |
| 5:75689054:T:C | N363D | 0.998 |
| 5:75689063:A:G | C360R | 0.998 |
| 5:75689068:C:T | G358D | 0.998 |
| 5:75689070:C:A | R357S | 0.998 |
| 5:75689070:C:G | R357S | 0.998 |
| 5:75689076:G:C | F355L | 0.998 |
| 5:75689076:G:T | F355L | 0.998 |
| 5:75689078:A:G | F355L | 0.998 |
| 5:75689061:A:C | C360W | 0.997 |
| 5:75689062:C:T | C360Y | 0.997 |
| 5:75689071:C:A | R357M | 0.997 |
| 5:75689071:C:G | R357T | 0.997 |
| 5:75689077:A:C | F355C | 0.997 |
| 5:75689031:A:C | F370L | 0.996 |
| 5:75689031:A:T | F370L | 0.996 |
| 5:75689033:A:G | F370L | 0.996 |
| 5:75689044:G:T | A366D | 0.996 |
| 5:75689047:T:A | E365V | 0.996 |
| 5:75689053:T:A | N363I | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000074655 (5:75678955 G>A), RS1000135244 (5:75694332 A>G), RS1000164934 (5:75677012 C>T), RS1000166954 (5:75685994 A>G), RS1000196100 (5:75684753 T>C), RS1000262215 (5:75685715 G>T), RS1000286547 (5:75688167 T>C), RS1000366387 (5:75719391 A>C), RS1000496261 (5:75689198 T>A,G), RS1000554399 (5:75679274 C>A), RS1000774418 (5:75692904 C>A,G,T), RS1000899938 (5:75702420 C>T), RS1000918162 (5:75711850 C>T), RS1001028542 (5:75709696 G>A), RS1001057017 (5:75712193 G>A,C,T)
Disease associations
OMIM: gene MIM:617880 | disease phenotypes: MIM:181800, MIM:268000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ciliopathy | Strong | Autosomal recessive |
| scoliosis | Strong | Autosomal dominant |
| retinitis pigmentosa | Limited | Autosomal recessive |
Mondo (6): optic atrophy (MONDO:0003608), inherited retinal dystrophy (MONDO:0019118), scoliosis, isolated, susceptibility to, 1 (MONDO:0008419), retinitis pigmentosa (MONDO:0019200), scoliosis (MONDO:0005392), ciliopathy (MONDO:0005308)
Orphanet (3): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Syndromic rod-cone dystrophy (Orphanet:98661)
HPO phenotypes
2 total (2 of 2 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
| HP:0002650 | Scoliosis |
GWAS associations
58 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000830_32 | Body mass index | 2.000000e-13 |
| GCST001953_13 | Obesity | 3.000000e-12 |
| GCST001953_33 | Obesity | 4.000000e-09 |
| GCST001953_63 | Obesity | 1.000000e-08 |
| GCST002461_19 | Body mass index | 4.000000e-06 |
| GCST002783_265 | Body mass index | 2.000000e-17 |
| GCST002783_38 | Body mass index | 3.000000e-13 |
| GCST002783_620 | Body mass index | 6.000000e-17 |
| GCST002783_66 | Body mass index | 5.000000e-07 |
| GCST004065_67 | Waist circumference | 2.000000e-13 |
| GCST004065_97 | Waist circumference | 3.000000e-13 |
| GCST004066_3 | Hip circumference | 7.000000e-11 |
| GCST004066_82 | Hip circumference | 1.000000e-11 |
| GCST004280_6 | Diastolic blood pressure | 1.000000e-08 |
| GCST004495_7 | BMI (adjusted for smoking behaviour) | 5.000000e-08 |
| GCST004495_8 | BMI (adjusted for smoking behaviour) | 1.000000e-13 |
| GCST004495_9 | BMI (adjusted for smoking behaviour) | 4.000000e-07 |
| GCST004497_79 | Body mass index (joint analysis main effects and smoking interaction) | 2.000000e-12 |
| GCST004497_80 | Body mass index (joint analysis main effects and smoking interaction) | 6.000000e-08 |
| GCST004497_81 | Body mass index (joint analysis main effects and smoking interaction) | 7.000000e-07 |
| GCST004499_11 | BMI in non-smokers | 2.000000e-06 |
| GCST004499_12 | BMI in non-smokers | 6.000000e-12 |
| GCST004499_13 | BMI in non-smokers | 3.000000e-08 |
| GCST004557_166 | Body mass index | 3.000000e-09 |
| GCST004557_185 | Body mass index | 6.000000e-06 |
| GCST004557_215 | Body mass index | 4.000000e-06 |
| GCST004557_50 | Body mass index | 6.000000e-10 |
| GCST004558_198 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-06 |
| GCST004558_234 | Body mass index (joint analysis main effects and physical activity interaction) | 5.000000e-09 |
| GCST004558_86 | Body mass index (joint analysis main effects and physical activity interaction) | 1.000000e-08 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0006336 | diastolic blood pressure |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004338 | body weight |
| EFO:0008336 | disease progression measurement |
| EFO:0009766 | asparagine measurement |
| EFO:0000195 | metabolic syndrome |
| EFO:0009819 | comparative body size at age 10, self-reported |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009896 | Optic Atrophy | C10.292.700.225; C11.640.451 |
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
| D012600 | Scoliosis | C05.116.900.800.875 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Estradiol | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Thapsigargin | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
473 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00508066 | PHASE4 | COMPLETED | Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery |
| NCT00510575 | PHASE4 | COMPLETED | Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis |
| NCT00768313 | PHASE4 | WITHDRAWN | Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. |
| NCT00880607 | PHASE4 | COMPLETED | Intrathecal Morphine Versus Epidural Extended Release Morphine for Pediatric Patients Undergoing Spinal Fusion |
| NCT00958581 | PHASE4 | COMPLETED | Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery |
| NCT01852747 | PHASE4 | TERMINATED | Comparison of Actifuse ABX and Local Bone in Spinal Surgery |
| NCT02464813 | PHASE4 | COMPLETED | Effect of Pregabalin on Immediate Post-operative and Longterm Pain |
| NCT02465099 | PHASE4 | TERMINATED | Posterior Spinal Fusion With Two Energy Dissection Techniques |
| NCT06540885 | PHASE4 | RECRUITING | A Comparison Between Palonosetron Versus Granisetron as PONV Prophylaxis in Scoliotic Patients Undergoing Spine Surgery |
| NCT06616220 | PHASE4 | COMPLETED | Dexamethasone for ESPB in Pain Management After Pediatric Idiopathic Scoliosis Surgery |
| NCT06789016 | PHASE4 | COMPLETED | Dexmedetomidine for ESPB in Pain Management After Pediatric Idiopathic Scoliosis Surgery |
| NCT00717080 | PHASE4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT00323752 | PHASE3 | COMPLETED | Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. |
| NCT00684112 | PHASE3 | COMPLETED | Analgesic Effects of Gabapentin After Scoliosis Surgery in Children |
| NCT00737997 | PHASE3 | COMPLETED | Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery |
| NCT01103115 | PHASE3 | COMPLETED | Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) |
| NCT01108211 | PHASE3 | COMPLETED | Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) |
| NCT01205256 | PHASE3 | COMPLETED | IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction |
| NCT02558010 | PHASE3 | COMPLETED | Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients |
| NCT03537612 | PHASE3 | TERMINATED | Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain |
| NCT00000114 | PHASE3 | COMPLETED | Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa |
| NCT00000116 | PHASE3 | COMPLETED | Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A |
| NCT00346333 | PHASE3 | COMPLETED | Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A |
| NCT01786395 | PHASE3 | TERMINATED | Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa |
| NCT04224207 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells |
| NCT04636853 | PHASE3 | COMPLETED | CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration |
| NCT05537220 | PHASE3 | ACTIVE_NOT_RECRUITING | Oral N-acetylcysteine for Retinitis Pigmentosa |
| NCT05800301 | PHASE3 | COMPLETED | Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision |
| NCT05926583 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa |
| NCT06388200 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa |
| NCT07082855 | PHASE3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| NCT07290530 | PHASE3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT00273598 | PHASE2 | COMPLETED | Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis |
| NCT01148888 | PHASE2 | COMPLETED | The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery |
| NCT00100230 | PHASE2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
| NCT00447980 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa |
| NCT00447993 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa |
| NCT01233609 | PHASE2 | COMPLETED | Trial of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01399515 | PHASE2 | COMPLETED | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01530659 | PHASE2 | COMPLETED | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa |
Related Atlas pages
- Associated diseases: ciliopathy, scoliosis, retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ciliopathy, retinitis pigmentosa, scoliosis, scoliosis, isolated, susceptibility to, 1