CEP162

gene
On this page

Also known as QN1

Summary

CEP162 (centrosomal protein 162, HGNC:21107) is a protein-coding gene on chromosome 6q14.2-q14.3, encoding Centrosomal protein of 162 kDa (Q5TB80). Required to promote assembly of the transition zone in primary cilia.

Involved in cilium assembly. Located in several cellular components, including Golgi apparatus; microtubule cytoskeleton; and nucleoplasm.

Source: NCBI Gene 22832 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 247 total — 1 pathogenic
  • MANE Select transcript: NM_014895

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21107
Approved symbolCEP162
Namecentrosomal protein 162
Location6q14.2-q14.3
Locus typegene with protein product
StatusApproved
AliasesQN1
Ensembl geneENSG00000135315
Ensembl biotypeprotein_coding
OMIM610201
Entrez22832

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000257766, ENST00000403245, ENST00000435955, ENST00000461137, ENST00000487999, ENST00000497936, ENST00000617909, ENST00000962927

RefSeq mRNA: 2 — MANE Select: NM_014895 NM_001286206, NM_014895

CCDS: CCDS34494, CCDS69149

Canonical transcript exons

ENST00000403245 — 27 exons

ExonStartEnd
ENSE000007981038417521484175347
ENSE000034615748421528284215465
ENSE000034623158416932884169433
ENSE000034769178420078984200905
ENSE000034776208422633784226452
ENSE000034808338420173784201767
ENSE000035007348421295784213024
ENSE000035011378419488484195075
ENSE000035083348417404884174188
ENSE000035266338418518784185448
ENSE000035368198417160684171718
ENSE000035540538414956284149703
ENSE000035554928417472784174954
ENSE000035598708414668784146785
ENSE000035744848415254584153179
ENSE000035761228419360984193690
ENSE000035806388422105784221171
ENSE000036059858415529884155510
ENSE000036216808420398184204096
ENSE000036241858412637884126512
ENSE000036274778418633284186623
ENSE000036314448421577684215922
ENSE000036535908416314484163270
ENSE000036774958416174684161909
ENSE000036823048416081284160916
ENSE000038500608412425084125276
ENSE000038502828422758084227643

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 91.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.8455 / max 223.8749, expressed in 1272 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
745803.84551272

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370191.37gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047390.21gold quality
spermCL:000001990.08gold quality
left testisUBERON:000453387.68gold quality
male germ cellCL:000001587.42gold quality
right testisUBERON:000453487.41gold quality
tendonUBERON:000004387.32gold quality
testisUBERON:000047386.51gold quality
right uterine tubeUBERON:000130285.07gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.33gold quality
buccal mucosa cellCL:000233683.93gold quality
ventricular zoneUBERON:000305382.20gold quality
bronchial epithelial cellCL:000232881.42gold quality
tendon of biceps brachiiUBERON:000818881.24gold quality
ganglionic eminenceUBERON:000402380.66gold quality
monocyteCL:000057679.62gold quality
cortical plateUBERON:000534379.44gold quality
mononuclear cellCL:000084279.34gold quality
leukocyteCL:000073879.18gold quality
tibial nerveUBERON:000132379.10gold quality
sural nerveUBERON:001548878.67gold quality
muscle layer of sigmoid colonUBERON:003580578.66gold quality
body of uterusUBERON:000985378.63gold quality
left coronary arteryUBERON:000162678.42gold quality
thyroid glandUBERON:000204678.40gold quality
right lobe of thyroid glandUBERON:000111978.36gold quality
left lobe of thyroid glandUBERON:000112078.27gold quality
descending thoracic aortaUBERON:000234578.15gold quality
metanephros cortexUBERON:001053378.14gold quality
right coronary arteryUBERON:000162578.11gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

57 targeting CEP162, 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-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-3163100.0077.238605
HSA-MIR-453499.9966.581907
HSA-MIR-186-5P99.9970.833707
HSA-MIR-4650-5P99.9864.69999
HSA-MIR-548AN99.9770.912817
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-808299.9567.271170
HSA-MIR-335-3P99.9373.364958
HSA-MIR-627-3P99.9071.423316
HSA-MIR-95-5P99.8972.173973
HSA-MIR-430799.8270.453374
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-44899.7972.372103
HSA-MIR-129999.7771.242389
HSA-MIR-56799.6368.571219
HSA-MIR-1260A99.6166.671098
HSA-MIR-1260B99.6166.671098
HSA-MIR-426199.5970.303415
HSA-MIR-891B99.5969.811083
HSA-MIR-1252-3P99.5567.712862
HSA-MIR-203A-3P99.4970.562806
HSA-MIR-7849-3P99.4768.171224
HSA-MIR-147B-5P99.4570.622432
HSA-MIR-56999.4266.321009
HSA-MIR-4666A-5P99.4169.721887
HSA-MIR-580-5P99.2870.941776
HSA-MIR-442699.1766.741949
HSA-MIR-138-2-3P98.9168.331643

Literature-anchored findings (GeneRIF, showing 4)

  • QN1/KIAA1009 is a new microtubule-associated ATPase involved in cell division (PMID:16302001)
  • CEP162 is an axoneme-recognition protein pre-tethered at centriole distal ends before ciliogenesis to promote and restrict transition zone formation specifically at the cilia base. (PMID:23644468)
  • CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. (PMID:36862503)
  • The association of five polymorphisms with diabetic retinopathy in a Chinese population. (PMID:37066695)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocep162ENSDARG00000087369
mus_musculusCep162ENSMUSG00000056919
rattus_norvegicusCep162ENSRNOG00000010608

Protein

Protein identifiers

Centrosomal protein of 162 kDaQ5TB80 (reviewed: Q5TB80)

Alternative names: Protein QN1 homolog

All UniProt accessions (2): F6V2J0, Q5TB80

UniProt curated annotations — full annotation on UniProt →

Function. Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules.

Subunit / interactions. Interacts with CEP290. Interacts with CPNE4. Interacts with alpha-tubulin.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Spindle. Nucleus.

Miscellaneous. Promotes ectopic assembly of transition zone components at cilia tips when targeted outside distal ends of centrioles, generating extra-long cilia with strikingly swollen tips.

Similarity. Belongs to the CEP162 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q5TB80-11yes
Q5TB80-22

RefSeq proteins (2): NP_001273135, NP_055710* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR038774CEP162-likeFamily

UniProt features (20 total): modified residue 4, sequence variant 4, coiled-coil region 4, region of interest 3, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5TB80-F163.930.21

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): 157, 160, 474, 475

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-5620912Anchoring of the basal body to the plasma membrane
R-HSA-1852241Organelle biogenesis and maintenance
R-HSA-5617833Cilium Assembly

MSigDB gene sets: 140 (showing top): MORF_MSH3, MODULE_255, MORF_BRCA1, MODULE_317, MORF_ESR1, MORF_RAD51L3, GOCC_MICROTUBULE_ORGANIZING_CENTER, BROWNE_HCMV_INFECTION_48HR_DN, MORF_CTSB, GOBP_CILIUM_ORGANIZATION, MORF_IL4, GOCC_CENTROSOME, MORF_PRKCA, GOBP_ORGANELLE_ASSEMBLY, MORF_THPO

GO Biological Process (2): cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (16): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), spindle (GO:0005819), cytosol (GO:0005829), axonemal microtubule (GO:0005879), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm head-tail coupling apparatus (GO:0120212), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Assembly of the 9+0 primary cilium1
Organelle biogenesis and maintenance1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure7
microtubule organizing center3
intracellular membraneless organelle3
cytoplasm2
intracellular membrane-bounded organelle2
microtubule cytoskeleton2
sperm flagellum2
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
binding1
nuclear lumen1
endomembrane system1
centriole1
cytoplasmic microtubule1
axoneme1
centrosome1
cilium1
intracellular anatomical structure1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

1018 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CEP162TUBG1P23258762
CEP162CEP290O15078743
CEP162TCTN1Q2MV58590
CEP162CEP120Q8N960574
CEP162KIAA0753Q2KHM9557
CEP162CEP164Q9UPV0550
CEP162YEATS4O95619543
CEP162CEP295Q9C0D2528
CEP162CCP110O43303528
CEP162IQCB1Q15051523
CEP162POC1BQ8TC44519
CEP162TMEM67Q5HYA8514
CEP162CEP19Q96LK0508
CEP162CEP89Q96ST8500
CEP162SAXO1Q8IYX7494

IntAct

81 interactions, top by confidence:

ABTypeScore
MED4MED19psi-mi:“MI:2364”(proximity)0.900
CEP290CCP110psi-mi:“MI:2364”(proximity)0.890
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
CEP162CEP290psi-mi:“MI:0915”(physical association)0.600
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
CEP162CEP135psi-mi:“MI:0915”(physical association)0.540
CEP120CEP162psi-mi:“MI:0915”(physical association)0.540
CEP104CCDC66psi-mi:“MI:2364”(proximity)0.540
CAPN6UBA6psi-mi:“MI:0914”(association)0.530
PCM1CEP162psi-mi:“MI:0914”(association)0.420
CEP162OFD1psi-mi:“MI:0914”(association)0.420
CEP128PCM1psi-mi:“MI:0914”(association)0.420
CEP162CCP110psi-mi:“MI:2364”(proximity)0.420
CEP162CCDC47psi-mi:“MI:0915”(physical association)0.400
ATXN1CEP162psi-mi:“MI:0915”(physical association)0.400
CEP162KCTD8psi-mi:“MI:0915”(physical association)0.400
CEP162KDM1Apsi-mi:“MI:0915”(physical association)0.370
PRMT8CEP162psi-mi:“MI:0915”(physical association)0.370
PRMT1CEP162psi-mi:“MI:0915”(physical association)0.370
ANLNPLEKHG3psi-mi:“MI:0914”(association)0.350
MYO18APLEKHG3psi-mi:“MI:0914”(association)0.350
MYO1CPLEKHG3psi-mi:“MI:0914”(association)0.350
FLNAPLEKHG3psi-mi:“MI:0914”(association)0.350
Myh10LMO7psi-mi:“MI:0914”(association)0.350
Actbpsi-mi:“MI:0914”(association)0.350
Lima1PLEKHG3psi-mi:“MI:0914”(association)0.350
Tmod3PLEKHG3psi-mi:“MI:0914”(association)0.350
Tpm1PLEKHG3psi-mi:“MI:0914”(association)0.350

BioGRID (240): CEP162 (Proximity Label-MS), CEP162 (Affinity Capture-Western), CEP120 (Affinity Capture-Western), CEP170 (Affinity Capture-Western), CEP97 (Affinity Capture-Western), KIAA0753 (Affinity Capture-Western), OFD1 (Affinity Capture-Western), PCM1 (Affinity Capture-Western), SPICE1 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), CEP162 (Affinity Capture-MS), CEP131 (Affinity Capture-MS), CCDC138 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GUX5, A0A1L8GXY6, A0A1W2P884, A2AIW0, A2AM05, A2CE83, A6H5Y1, E7F5E1, F7DP49, H2MTR9, O08970, O60296, P27628, P28290, P57077, Q08AD1, Q0VF96, Q28GJ0, Q2KJD6, Q2MJV9, Q3KQW7, Q3V036, Q4KLH6, Q4KM62, Q4R815, Q5R9L2, Q5SZL2, Q5TB80, Q5U2Y9, Q5U4W1, Q66H35, Q6AW69, Q6IRN6, Q6PD31, Q6ZQ06, Q70YC5, Q7ZX27, Q80ST9, Q86VQ0, Q8C115

Diamond homologs: E7F5E1, Q4KLH6, Q5TB80, Q6ZQ06, Q91365

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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
Activation of BAD and translocation to mitochondria582.8×8e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex573.0×1e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways573.0×1e-07
Activation of BH3-only proteins554.0×5e-07
RHO GTPases activate PKNs748.3×5e-09
Intrinsic Pathway for Apoptosis531.8×7e-06
Loss of Nlp from mitotic centrosomes931.0×2e-09
Loss of proteins required for interphase microtubule organization from the centrosome931.0×2e-09

GO biological processes:

GO termPartnersFoldFDR
intracellular protein localization710.5×3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance202
Likely benign15
Benign1

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1340905GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1Pathogenic

SpliceAI

4163 predictions. Top by Δscore:

VariantEffectΔscore
6:84125273:TTAT:Tacceptor_gain1.0000
6:84125275:ATCT:Aacceptor_loss1.0000
6:84125276:TC:Tacceptor_loss1.0000
6:84125277:C:CAacceptor_loss1.0000
6:84125277:C:CCacceptor_gain1.0000
6:84126371:A:ACdonor_gain1.0000
6:84126372:C:CCdonor_gain1.0000
6:84126372:CTTTA:Cdonor_gain1.0000
6:84126373:TTTA:Tdonor_loss1.0000
6:84126375:TACCT:Tdonor_loss1.0000
6:84126508:GTAAT:Gacceptor_gain1.0000
6:84126509:TAAT:Tacceptor_gain1.0000
6:84126510:AAT:Aacceptor_gain1.0000
6:84126510:AATCT:Aacceptor_loss1.0000
6:84126511:AT:Aacceptor_gain1.0000
6:84126511:ATCTA:Aacceptor_loss1.0000
6:84126512:TCTAA:Tacceptor_loss1.0000
6:84126513:C:CAacceptor_loss1.0000
6:84126513:C:CCacceptor_gain1.0000
6:84126514:T:Cacceptor_loss1.0000
6:84126519:T:Cacceptor_gain1.0000
6:84126519:T:TCacceptor_gain1.0000
6:84126523:C:CTacceptor_gain1.0000
6:84126524:A:Cacceptor_gain1.0000
6:84149557:TCTAC:Tdonor_loss1.0000
6:84149558:CTAC:Cdonor_loss1.0000
6:84149559:TACC:Tdonor_loss1.0000
6:84149560:A:Cdonor_loss1.0000
6:84149561:C:CAdonor_loss1.0000
6:84149561:CCT:Cdonor_gain1.0000

AlphaMissense

9407 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:84125164:A:GL1373P0.997
6:84126482:C:GA1301P0.996
6:84160816:C:GR926P0.996
6:84160822:A:GL924P0.996
6:84125134:A:GL1383P0.995
6:84125143:A:GL1380P0.995
6:84125175:G:CF1369L0.995
6:84125175:G:TF1369L0.995
6:84125177:A:GF1369L0.995
6:84155377:A:GL972P0.995
6:84174064:A:GL717P0.995
6:84125219:A:GW1355R0.994
6:84125219:A:TW1355R0.994
6:84126502:A:GL1294P0.994
6:84155365:A:GL976P0.994
6:84125173:C:GR1370P0.993
6:84155332:A:GL987P0.993
6:84161849:A:GL858P0.993
6:84126385:A:GL1333P0.992
6:84146697:A:GL1287P0.992
6:84155444:C:GA950P0.992
6:84171684:A:GL734P0.992
6:84174067:A:GL716P0.992
6:84174076:T:GQ713P0.992
6:84126396:T:AR1329S0.991
6:84126396:T:GR1329S0.991
6:84146709:C:GR1283P0.991
6:84155329:C:GR988P0.991
6:84155468:A:GS942P0.991
6:84174737:A:GL672P0.991

dbSNP variants (sampled 300 via entrez): RS1000001373 (6:84145626 C>T), RS1000035564 (6:84147333 G>A,C,T), RS1000049974 (6:84223864 C>A), RS1000083753 (6:84140560 C>A,T), RS1000136765 (6:84195464 T>C), RS1000158644 (6:84176949 T>A), RS1000200567 (6:84134070 C>A), RS1000202527 (6:84193957 C>A,T), RS1000203314 (6:84165469 AC>A), RS1000228453 (6:84158741 TA>T), RS1000241811 (6:84146931 T>C,G), RS1000285861 (6:84172221 A>C), RS1000307032 (6:84206311 T>G), RS1000311500 (6:84225664 T>G), RS1000331194 (6:84140207 G>A)

Disease associations

OMIM: gene MIM:610201 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

StudyTraitp-value
GCST002684_1Diabetic retinopathy in type 2 diabetes1.000000e-06
GCST003996_36Monobrow2.000000e-19
GCST009391_112Metabolite levels4.000000e-08
GCST009391_125Metabolite levels2.000000e-07
GCST009391_1841Metabolite levels3.000000e-07
GCST009391_1854Metabolite levels3.000000e-06
GCST009391_62Metabolite levels5.000000e-06

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0007906synophrys measurement
EFO:0010354diacylglycerol 36:1 measurement
EFO:0010355diacylglycerol 36:2 measurement
EFO:0010413triacylglycerol 52:1 measurement
EFO:0010410triacylglycerol 50:3 measurement
EFO:0010352diacylglycerol 34:1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases methylation, increases expression2
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
bisphenol Aincreases methylation1
sodium arseniteaffects methylation1
butyraldehydedecreases expression1
ferrous chloridedecreases expression1
coumarinincreases phosphorylation1
perfluorooctane sulfonic aciddecreases expression1
abrinedecreases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibdecreases expression1
Vorinostatincreases expression1
Acetaminophenincreases expression1
Atrazinedecreases expression1
Cisplatindecreases expression1
Gallic Aciddecreases expression1
Plant Extractsaffects cotreatment, increases expression1
Progesteroneincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Cyclosporinedecreases expression1
Aflatoxin M1decreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): diabetic retinopathy