CEP20

gene
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Also known as DKFZp686N1651FLJ31153PHSECRG2FOR20

Summary

CEP20 (centrosomal protein 20, HGNC:26435) is a protein-coding gene on chromosome 16p13.11, encoding Centrosomal protein 20 (Q96NB1). Involved in the biogenesis of cilia.

Enables identical protein binding activity. Involved in cilium assembly. Located in centriolar satellite; ciliary basal body; and nucleoplasm.

Source: NCBI Gene 123811 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 46 total — 5 pathogenic, 3 likely-pathogenic
  • MANE Select transcript: NM_144600

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26435
Approved symbolCEP20
Namecentrosomal protein 20
Location16p13.11
Locus typegene with protein product
StatusApproved
AliasesDKFZp686N1651, FLJ31153, PHSECRG2, FOR20
Ensembl geneENSG00000133393
Ensembl biotypeprotein_coding
OMIM617149
Entrez123811

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 2 nonsense_mediated_decay

ENST00000255759, ENST00000572415, ENST00000573087, ENST00000573396, ENST00000573429, ENST00000573968, ENST00000575073, ENST00000575744, ENST00000575938, ENST00000870039, ENST00000929531, ENST00000929532, ENST00000929533, ENST00000962007, ENST00000962008

RefSeq mRNA: 6 — MANE Select: NM_144600 NM_001304497, NM_001304498, NM_001304499, NM_001304500, NM_001304502, NM_144600

CCDS: CCDS10567, CCDS76829, CCDS76830, CCDS76831, CCDS76832, CCDS76833

Canonical transcript exons

ENST00000255759 — 5 exons

ExonStartEnd
ENSE000009091531588400815884205
ENSE000026609711586571915867516
ENSE000026733421588855815888603
ENSE000034706291587349115873627
ENSE000036620921587980415879888

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 93.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4945 / max 332.3969, expressed in 1783 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
15652314.49451783

Top tissues by expression

143 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
islet of LangerhansUBERON:000000693.36gold quality
skeletal muscle tissueUBERON:000113493.08gold quality
muscle of legUBERON:000138393.00gold quality
calcaneal tendonUBERON:000370193.00gold quality
skeletal muscle organUBERON:001489293.00gold quality
gastrocnemiusUBERON:000138892.99gold quality
hindlimb stylopod muscleUBERON:000425292.10gold quality
muscle tissueUBERON:000238591.93gold quality
monocyteCL:000057691.72gold quality
leukocyteCL:000073891.52gold quality
endometriumUBERON:000129591.51gold quality
lower esophagus mucosaUBERON:003583491.38gold quality
ventricular zoneUBERON:000305390.44gold quality
esophagus mucosaUBERON:000246990.42gold quality
left testisUBERON:000453390.37gold quality
lymph nodeUBERON:000002990.24gold quality
pancreasUBERON:000126490.08gold quality
rectumUBERON:000105290.01gold quality
right testisUBERON:000453490.00gold quality
testisUBERON:000047389.97gold quality
colonic epitheliumUBERON:000039789.53gold quality
smooth muscle tissueUBERON:000113589.44gold quality
adrenal tissueUBERON:001830389.40gold quality
embryoUBERON:000092289.14gold quality
ganglionic eminenceUBERON:000402389.14gold quality
esophagusUBERON:000104388.82gold quality
body of pancreasUBERON:000115088.74gold quality
stromal cell of endometriumCL:000225588.72gold quality
urinary bladderUBERON:000125588.65gold quality
cortical plateUBERON:000534388.62gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting CEP20, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-3163100.0077.238605
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-150-5P99.9966.691976
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-1213699.9872.815713
HSA-MIR-499A-5P99.9870.791323
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-590-3P99.9674.346478
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-545-3P99.9570.742783
HSA-MIR-3682-5P99.9367.971163
HSA-MIR-130599.9171.433443
HSA-MIR-4697-3P99.8967.091123
HSA-MIR-95-5P99.8972.173973
HSA-MIR-7162-3P99.8968.161682
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-369-3P99.8570.522264
HSA-MIR-629-3P99.8567.991875
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-544A99.8468.661965
HSA-MIR-374C-5P99.8072.062910
HSA-MIR-655-3P99.8072.192909
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-3913-5P99.7867.26968
HSA-MIR-57799.7869.132479
HSA-MIR-1273H-5P99.7766.322471

Literature-anchored findings (GeneRIF, showing 6)

  • Microdeletions at 16p13.11 are associated with a predisposition to idiopathic generalized epilepsy. (PMID:19843651)
  • The depletion of FOR20 (FOP-related protein of 20 kDa), a conserved centrosomal protein, inhibits S-phase progression and prevents targeting of Plk1 (polo-like kinase 1) to centrosomes, where FOR20 interacts with Plk1. (PMID:24018379)
  • FOPNL genomic variant is associated with multiple myeloma. (PMID:28691553)
  • The results suggested that the centrosomal protein FOR20 is a new member of the microtubule-associated protein family and that it regulates the assembly and dynamics of microtubules while interacting with tubulin. (PMID:28694353)
  • The S100A6 interacts with FOR20 and related centrosomal proteins through a conserved N-terminal domain, suggesting a novel Ca(2+)-dependent regulation of centrosomal function. (PMID:28765046)
  • Results together with the limitations of the original studies indicate that the reported associations between the MTHFD1L and FOPNL loci and MM survival are false positives due to a winner’s curse effect. (PMID:31363079)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocep20ENSDARG00000071198
mus_musculusCep20ENSMUSG00000022677
rattus_norvegicusCep20ENSRNOG00000053230

Protein

Protein identifiers

Centrosomal protein 20Q96NB1 (reviewed: Q96NB1)

Alternative names: FGFR1OP N-terminal-like protein, FOP-related protein of 20 kDa, LisH domain-containing protein FOPNL

All UniProt accessions (8): Q96NB1, I3L0K3, I3L0U4, I3L269, I3L2N4, I3L3N6, I3L4V2, I3NI25

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the biogenesis of cilia. Required for the recruitment of PLK1 to centrosomes and S phase progression.

Subunit / interactions. Homooligomer; probably required for localization to centrosomes. Forms a complex with KIAA0753/OFIP and OFD1; within this complex may stabilize the interaction between OFD1 and KIAA0753/OFIP. Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP. Interacts with PLK1 in later G1, S, G2 and M phases of the cell cycle; this interaction recruits PLK1 to centrosomes.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cell projection. Cilium. Cilium basal body. Cytoplasmic granule. Centriolar satellite.

Tissue specificity. Widely expressed. Detected in brain, heart, kidney, liver, lung, skeletal muscle, placenta and intestine.

Similarity. Belongs to the CEP43 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q96NB1-11yes
Q96NB1-22

RefSeq proteins (6): NP_001291426, NP_001291427, NP_001291428, NP_001291429, NP_001291431, NP_653201* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR006594LisHConserved_site
IPR018993FOP_dimerisation-dom_NDomain

Pfam: PF09398

UniProt features (13 total): mutagenesis site 6, region of interest 2, chain 1, domain 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96NB1-F173.950.42

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 (1): 144

Mutagenesis-validated functional residues (6):

PositionPhenotype
76loss of homooligomerization and loss of localization to centrosomes and pericentriolar satellites; when associated with
76strongly decreased interaction with kiaa0753; when associated with a-49. loss of interaction with kiaa0753; when associa
106no effect on interaction with kiaa0753.
49loss of homooligomerization and loss of localization to centrosomes and pericentriolar satellites; when associated with
49strongly decreased interaction with kiaa0753; when associated with a-76.
53loss of interaction with kiaa0753; when associated with a-76.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 109 (showing top): GOBP_MICROTUBULE_ANCHORING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, FISCHER_DREAM_TARGETS, SENESE_HDAC1_TARGETS_UP, GOBP_CELL_PROJECTION_ORGANIZATION, SENESE_HDAC3_TARGETS_DN, GOCC_CENTRIOLE, GOCC_MOTILE_CILIUM, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOCC_CENTRIOLAR_SATELLITE

GO Biological Process (3): microtubule anchoring (GO:0034453), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (12): nucleoplasm (GO:0005654), centrosome (GO:0005813), centriole (GO:0005814), motile cilium (GO:0031514), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure5
microtubule organizing center3
intracellular membraneless organelle2
cilium2
microtubule cytoskeleton organization1
axoneme assembly1
intraciliary transport involved in cilium assembly1
cilium organization1
protein localization to cilium1
organelle assembly1
trans-Golgi to periciliary membrane compartment transport1
plasma membrane bounded cell projection assembly1
ciliary transition zone assembly1
cellular component organization1
protein binding1
binding1
nuclear lumen1
centriole1
centrosome1
intracellular anatomical structure1
microtubule cytoskeleton1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1
cytoskeleton1

Protein interactions and networks

STRING

656 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CEP20MARF1Q9Y4F3753
CEP20OFD1O75665745
CEP20KIAA0753Q2KHM9737
CEP20BMERB1Q96MC5716
CEP20PIBF1Q8WXW3665
CEP20MPV17LQ2QL34660
CEP20CCDC61Q9Y6R9626
CEP20H3BMD7H3BMD7624
CEP20NDE1Q9NXR1587
CEP20CEP19Q96LK0577
CEP20NOMO3P69849573
CEP20CEP350Q5VT06553
CEP20ABCC6P78420540
CEP20CCDC138Q96M89523
CEP20TBC1D31Q96DN5488

IntAct

62 interactions, top by confidence:

ABTypeScore
CEP290CCP110psi-mi:“MI:2364”(proximity)0.890
CSNK1EPER1psi-mi:“MI:0914”(association)0.840
DYNLL1BLTP3Bpsi-mi:“MI:0914”(association)0.730
CEP20OFD1psi-mi:“MI:0914”(association)0.710
DYNLL2BLTP3Bpsi-mi:“MI:0914”(association)0.640
CEP20CEP20psi-mi:“MI:0915”(physical association)0.590
CCDC116CEP20psi-mi:“MI:0915”(physical association)0.560
LIN7BCASKpsi-mi:“MI:0914”(association)0.530
MRPS14PSME3psi-mi:“MI:0914”(association)0.530
NDEL1OFD1psi-mi:“MI:0914”(association)0.530
CEP20PCM1psi-mi:“MI:0403”(colocalization)0.520
PCM1CEP20psi-mi:“MI:0403”(colocalization)0.520
KIAA0753OFD1psi-mi:“MI:2364”(proximity)0.480
CEP20S100A1psi-mi:“MI:0915”(physical association)0.400
CEP20S100A2psi-mi:“MI:0915”(physical association)0.400
CEP20S100A3psi-mi:“MI:0915”(physical association)0.400
CEP20S100A4psi-mi:“MI:0915”(physical association)0.400
CEP20S100A5psi-mi:“MI:0915”(physical association)0.400
CEP20S100A6psi-mi:“MI:0915”(physical association)0.400
CEP20S100A7psi-mi:“MI:0915”(physical association)0.400
CEP20S100A7Apsi-mi:“MI:0915”(physical association)0.400
CEP20S100Bpsi-mi:“MI:0915”(physical association)0.400
CEP20S100Gpsi-mi:“MI:0915”(physical association)0.400
CEP20S100Ppsi-mi:“MI:0915”(physical association)0.400
Cep135psi-mi:“MI:0914”(association)0.350
Ppp2r1aCCHCR1psi-mi:“MI:0914”(association)0.350
Nedd1psi-mi:“MI:0914”(association)0.350
Cep152SH3PXD2Bpsi-mi:“MI:0914”(association)0.350

BioGRID (54): FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS)

ESM2 similar proteins: A0JMA8, A1A5P5, A2RVA7, B0S6J3, D2KC46, D3ZY60, E7F187, F1MS15, O43295, O60308, O94868, Q05B30, Q08CX1, Q08DB0, Q0IH24, Q10113, Q15057, Q17AF4, Q2KI89, Q39238, Q3B7T8, Q3USJ8, Q4R7I0, Q567U6, Q58DA1, Q5BJT7, Q5FVC7, Q5R629, Q5TZ80, Q5U245, Q5W7F2, Q5ZJ27, Q5ZK62, Q6IVG4, Q6NRB0, Q6ZQK5, Q7Z3E5, Q8BHR2, Q8BIL5, Q8RW96

Diamond homologs: O95684, P0CAX8, Q2YDD1, Q4R7V3, Q4V7C1, Q5ZJ24, Q66JX5, Q96NB1, Q9CZS3, Q9FQ24, Q9FQ25, Q4V7R8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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:

PathwayPartnersFoldFDR
Loss of Nlp from mitotic centrosomes949.2×6e-12
Loss of proteins required for interphase microtubule organization from the centrosome949.2×6e-12
AURKA Activation by TPX2947.3×7e-12
Recruitment of mitotic centrosome proteins and complexes942.2×2e-11
Regulation of PLK1 Activity at G2/M Transition939.4×2e-11
Anchoring of the basal body to the plasma membrane1039.0×6e-12
Recruitment of NuMA to mitotic centrosomes936.2×5e-11
Cilium Assembly518.8×1e-04

GO biological processes:

GO termPartnersFoldFDR
cilium assembly711.7×3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

46 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic5
Likely pathogenic3
Uncertain significance29
Likely benign2
Benign2

Top pathogenic / likely-pathogenic (8)

Variant IDHGVSClassification
3777760Single allelePathogenic
4820133NC_000016.9:g.15459752_16367752delPathogenic
625573GRCh37/hg19 16p13.11(chr16:15493046-16053729)Pathogenic
625598GRCh37/hg19 16p13.11(chr16:15168667-16291983)Pathogenic
980082GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1Pathogenic
1711420GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3Likely pathogenic
3235935GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)Likely pathogenic
503581GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4Likely pathogenic

SpliceAI

1159 predictions. Top by Δscore:

VariantEffectΔscore
16:15873487:ATAC:Adonor_gain1.0000
16:15879802:A:ACdonor_gain1.0000
16:15879803:C:CCdonor_gain1.0000
16:15881503:A:ACdonor_gain1.0000
16:15881504:C:CCdonor_gain1.0000
16:15881506:T:TAdonor_gain1.0000
16:15881506:TC:Tdonor_gain1.0000
16:15881541:T:TAdonor_gain1.0000
16:15888556:ACCAG:Adonor_gain1.0000
16:15888557:CCAGC:Cdonor_gain1.0000
16:15879803:CA:Cdonor_gain0.9900
16:15881284:C:CTdonor_gain0.9900
16:15881285:T:TTdonor_gain0.9900
16:15881287:CTG:Cdonor_gain0.9900
16:15881288:TGT:Tdonor_gain0.9900
16:15881490:A:Cdonor_gain0.9900
16:15881504:CT:Cdonor_gain0.9900
16:15881505:TT:Tdonor_gain0.9900
16:15881542:C:Adonor_gain0.9900
16:15884001:CACTT:Cdonor_loss0.9900
16:15884002:ACTTA:Adonor_loss0.9900
16:15884003:CTTA:Cdonor_loss0.9900
16:15884004:TTAC:Tdonor_loss0.9900
16:15884005:TACC:Tdonor_loss0.9900
16:15884206:C:CCacceptor_gain0.9900
16:15888551:CACT:Cdonor_loss0.9900
16:15888552:ACTC:Adonor_loss0.9900
16:15888555:CACC:Cdonor_loss0.9900
16:15888556:A:ACdonor_gain0.9900
16:15888556:A:Cdonor_loss0.9900

AlphaMissense

1129 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:15884146:C:GA30P0.996
16:15884016:A:GL73P0.994
16:15884019:A:TV72D0.992
16:15884061:C:GR58P0.992
16:15884045:G:CF63L0.990
16:15884045:G:TF63L0.990
16:15884047:A:GF63L0.990
16:15884158:C:GA26P0.989
16:15884148:C:GR29P0.986
16:15884139:A:TV32D0.985
16:15888566:A:GL7S0.985
16:15884056:A:GY60H0.984
16:15884072:A:CN54K0.984
16:15884072:A:TN54K0.984
16:15879837:A:GL93P0.983
16:15884131:C:GA35P0.982
16:15884190:A:GL15S0.982
16:15884202:A:GL11S0.982
16:15884064:A:TI57N0.981
16:15884082:A:GL51P0.981
16:15884028:G:TT69K0.977
16:15884056:A:CY60D0.977
16:15884135:G:CF33L0.977
16:15884135:G:TF33L0.977
16:15884137:A:GF33L0.977
16:15879886:A:GS77P0.976
16:15884055:T:GY60S0.974
16:15884151:A:TI28N0.972
16:15884070:T:AE55V0.971
16:15884052:A:GL61S0.970

dbSNP variants (sampled 300 via entrez): RS1000100124 (16:15879574 A>T), RS1000156667 (16:15887005 C>T), RS1000275775 (16:15884765 A>T), RS1000282587 (16:15874165 C>G,T), RS1000341967 (16:15873411 G>A,C), RS1000461989 (16:15889677 G>A), RS1000565864 (16:15868339 G>A,C,T), RS1000576337 (16:15883148 G>A), RS1000693475 (16:15884966 A>C), RS1000705348 (16:15869920 C>T), RS1000759025 (16:15888177 C>G), RS1001076580 (16:15869727 A>T), RS1001172812 (16:15878790 C>T), RS1001317677 (16:15874653 C>T), RS1001407126 (16:15874270 A>G)

Disease associations

OMIM: gene MIM:617149 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): 16p13.11 microduplication syndrome (MONDO:0016837)

Orphanet (1): 16p13.11 microduplication syndrome (Orphanet:261243)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

StudyTraitp-value
GCST003051_1Multiple myeloma (survival)7.000000e-09
GCST003225_26Pelvic organ prolapse (moderate/severe)3.000000e-07
GCST90000015_13Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio)3.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0000638overall survival
EFO:0600011Parkinson’s disease symptom measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Aciddecreases expression, increases expression, affects expression3
dicrotophosdecreases expression1
arseniteaffects binding, increases reaction1
sulforaphaneincreases expression1
sodium arseniteincreases abundance, increases expression1
2-palmitoylglycerolincreases expression1
abrinedecreases expression1
bisphenol Saffects cotreatment, decreases methylation1
jinfukangdecreases expression1
Resveratrolaffects cotreatment, increases expression1
Zoledronic Acidincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Air Pollutantsdecreases expression, increases abundance1
Arsenicincreases abundance, increases expression1
Benzo(a)pyreneaffects methylation1
Coaldecreases expression, increases abundance1
Doxorubicindecreases expression1
Plant Extractsincreases expression, affects cotreatment1
Smokedecreases expression, increases abundance1
Tobacco Smoke Pollutionincreases expression1
Zincdecreases expression1
Cyclosporineincreases expression1
Cadmium Chlorideincreases expression1
Okadaic Aciddecreases expression1
Lactic Aciddecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.