CEP15

Summary

CEP15 (centrosomal protein 15, HGNC:25024) is a protein-coding gene on chromosome 3p14.2, encoding Centrosomal protein 15 (Q9HBI5). May play a role in ciliary assembly.

Predicted to be located in cilium.

Source: NCBI Gene 57415 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_001291941

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25024
Approved symbol	CEP15
Name	centrosomal protein 15
Location	3p14.2
Locus type	gene with protein product
Status	Approved
Aliases	HT021
Ensembl gene	ENSG00000114405
Ensembl biotype	protein_coding
Entrez	57415

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000232519, ENST00000462069, ENST00000465142, ENST00000486169, ENST00000491323, ENST00000494481, ENST00000542214, ENST00000960035

RefSeq mRNA: 4 — MANE Select: NM_001291941 NM_001291941, NM_001291942, NM_001291943, NM_020685

CCDS: CCDS2896

Canonical transcript exons

ENST00000462069 — 6 exons

Exon	Start	End
ENSE00000773526	62331325	62331399
ENSE00001362263	62319721	62319832
ENSE00001865441	62319022	62319055
ENSE00001881480	62333255	62336213
ENSE00003487810	62321930	62322053
ENSE00003567974	62320460	62320524

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 97.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6319 / max 158.0113, expressed in 1506 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37110	12.3081	1493
37111	0.8407	345
37112	0.4830	218

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	97.98	gold quality
cortical plate	UBERON:0005343	97.98	gold quality
endothelial cell	CL:0000115	97.87	gold quality
ganglionic eminence	UBERON:0004023	97.50	gold quality
middle temporal gyrus	UBERON:0002771	97.00	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.58	gold quality
orbitofrontal cortex	UBERON:0004167	95.97	gold quality
superior vestibular nucleus	UBERON:0007227	95.95	gold quality
substantia nigra pars compacta	UBERON:0001965	95.78	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.46	gold quality
amygdala	UBERON:0001876	95.42	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.36	gold quality
prefrontal cortex	UBERON:0000451	95.35	gold quality
anterior cingulate cortex	UBERON:0009835	95.32	gold quality
cingulate cortex	UBERON:0003027	95.29	gold quality
dorsal root ganglion	UBERON:0000044	95.22	gold quality
temporal lobe	UBERON:0001871	95.16	gold quality
islet of Langerhans	UBERON:0000006	95.12	gold quality
neocortex	UBERON:0001950	95.04	gold quality
frontal cortex	UBERON:0001870	95.03	gold quality
parietal lobe	UBERON:0001872	95.02	gold quality
postcentral gyrus	UBERON:0002581	94.96	gold quality
cerebral cortex	UBERON:0000956	94.89	gold quality
substantia nigra pars reticulata	UBERON:0001966	94.89	gold quality
superior frontal gyrus	UBERON:0002661	94.87	gold quality
entorhinal cortex	UBERON:0002728	94.80	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.53	gold quality
right frontal lobe	UBERON:0002810	94.52	gold quality
sperm	CL:0000019	94.46	gold quality
nucleus accumbens	UBERON:0001882	94.35	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	12.42
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

112 targeting CEP15, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-1468-3P	99.96	72.74	3797
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-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	CEP15	ENSDARG00000086324
mus_musculus	Cep15	ENSMUSG00000033111
rattus_norvegicus	Cep15	ENSRNOG00000039871

Protein

Protein identifiers

Centrosomal protein 15 — Q9HBI5 (reviewed: Q9HBI5)

Alternative names: Centrosomal protein 15 kDa

All UniProt accessions (2): Q9HBI5, C9JY17

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in ciliary assembly.

Subcellular location. Cell projection. Cilium.

RefSeq proteins (4): NP_001278870, NP_001278871, NP_001278872, NP_065736 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028006	CEP15-like	Family

Pfam: PF15134

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HBI5-F1	86.33	0.63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 135 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, WEI_MYCN_TARGETS_WITH_E_BOX, MODULE_205, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GRAHAM_CML_QUIESCENT_VS_NORMAL_DIVIDING_DN, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, HP1SITEFACTOR_Q6, OCT1_06, LIAO_METASTASIS, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, CREB_Q2_01

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cellular anatomical structure	1

Protein interactions and networks

STRING

450 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP15	J3KS56	J3KS56	589
CEP15	CEP89	Q96ST8	577
CEP15	CCDC77	Q9BR77	559
CEP15	CCDC150	Q8NCX0	559
CEP15	RIBC2	Q9H4K1	528
CEP15	C9orf40	Q8IXQ3	506
CEP15	OTULINL	Q9NUU6	460
CEP15	ZNF367	Q7RTV3	455
CEP15	SATL1	Q86VE3	449
CEP15	DONSON	Q9NYP3	447
CEP15	GOLGA8H	P0CJ92	447
CEP15	TTC1	Q99614	433
CEP15	MGME1	Q9BQP7	425
CEP15	MRPL50	Q8N5N7	402
CEP15	OR13A1	Q8NGR1	393

IntAct

9 interactions, top by confidence:

A	B	Type	Score
CEP15	SERPINA12	psi-mi:“MI:0915”(physical association)	0.400
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CEP15	POTEF	psi-mi:“MI:0914”(association)	0.350
CEP89	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP15		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): C3orf14 (Proximity Label-MS), C3orf14 (Affinity Capture-RNA), SERPINA12 (Affinity Capture-MS), YES1 (Affinity Capture-MS), NCS1 (Affinity Capture-MS), SMPDL3B (Affinity Capture-MS), CEP89 (Affinity Capture-MS), POTEF (Affinity Capture-MS), DDX3Y (Affinity Capture-MS), C3orf14 (Proximity Label-MS)

ESM2 similar proteins: A3KQI3, A4GCK2, A4GZV0, A4WBQ9, A7MEF1, A7SGF0, B2VJD3, D4GGV4, D4HVG6, O17213, O32124, O84672, O85806, P13313, P24445, P37588, P69266, P69267, Q01048, Q08545, Q18446, Q39236, Q4R8E8, Q4S3C1, Q4V8P4, Q4V8S9, Q5RK03, Q67173, Q6FJ19, Q6XTK1, Q77ZK7, Q77ZL2, Q77ZL4, Q7TD12, Q7TPM5, Q80A33, Q89733, Q8BGD0, Q96E40, Q96FH0

Diamond homologs: Q29S20, Q8BGD0, Q9HBI5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

773 predictions. Top by Δscore:

Variant	Effect	Δscore
3:62320458:A:AG	acceptor_gain	1.0000
3:62320459:G:GG	acceptor_gain	1.0000
3:62320459:GCTTT:G	acceptor_gain	1.0000
3:62320520:GAAAT:G	donor_gain	1.0000
3:62320525:G:GG	donor_gain	1.0000
3:62321925:TCTA:T	acceptor_loss	1.0000
3:62321926:CTA:C	acceptor_loss	1.0000
3:62321927:TAGA:T	acceptor_gain	1.0000
3:62321928:A:AG	acceptor_gain	1.0000
3:62321929:G:GT	acceptor_gain	1.0000
3:62321929:GA:G	acceptor_gain	1.0000
3:62321929:GAGT:G	acceptor_gain	1.0000
3:62321929:GAGTA:G	acceptor_gain	1.0000
3:62322052:AGG:A	donor_loss	1.0000
3:62322054:G:GC	donor_loss	1.0000
3:62322054:G:GG	donor_gain	1.0000
3:62322055:T:G	donor_loss	1.0000
3:62331396:TGAGG:T	donor_loss	1.0000
3:62331399:GGTG:G	donor_loss	1.0000
3:62331400:G:A	donor_loss	1.0000
3:62333254:GACTC:G	acceptor_gain	1.0000
3:62319053:TCGGT:T	donor_loss	0.9900
3:62319057:T:A	donor_loss	0.9900
3:62319058:G:GG	donor_loss	0.9900
3:62320021:A:T	donor_gain	0.9900
3:62320453:A:AG	acceptor_gain	0.9900
3:62320454:T:G	acceptor_gain	0.9900
3:62320454:T:TA	acceptor_gain	0.9900
3:62320459:GCTT:G	acceptor_gain	0.9900
3:62320522:AATG:A	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000314619 (3:62332174 C>T), RS1000417449 (3:62331702 A>G), RS1000429488 (3:62325437 G>A,C,T), RS1000581506 (3:62330197 T>C,G), RS1000656427 (3:62330463 A>G), RS1000686329 (3:62317094 A>G), RS1000846387 (3:62319010 G>A,C,T), RS1000865674 (3:62325666 A>G), RS1001073481 (3:62325813 CAA>C), RS1001165031 (3:62323531 G>A,C), RS1001413484 (3:62330122 A>G), RS1001932940 (3:62323896 C>T), RS1001964044 (3:62324210 C>G), RS1002139714 (3:62317920 G>A), RS1002204283 (3:62318985 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

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.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression, affects expression	9
trichostatin A	affects cotreatment, increases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Estradiol	decreases expression, affects cotreatment	2
bisphenol A	decreases expression	1
hydroquinone	decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
gadodiamide	increases expression	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Coumestrol	increases expression	1
Ketoconazole	increases expression	1
Mitoxantrone	affects response to substance	1
Mustard Gas	decreases expression	1
Progesterone	decreases expression, affects cotreatment	1
Tobacco Smoke Pollution	decreases expression	1
Zinc	decreases expression	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	decreases expression	1
Zinc Sulfate	decreases expression	1

Clinical trials (associated diseases)

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