CEP95

Summary

CEP95 (centrosomal protein 95, HGNC:25141) is a protein-coding gene on chromosome 17q23.3, encoding Centrosomal protein of 95 kDa (Q96GE4).

Located in centrosome and spindle pole.

Source: NCBI Gene 90799 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 152 total
• MANE Select transcript: NM_138363

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25141
Approved symbol	CEP95
Name	centrosomal protein 95
Location	17q23.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp667E1824
Ensembl gene	ENSG00000258890
Ensembl biotype	protein_coding
Entrez	90799

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 8 protein_coding, 8 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000553956, ENST00000556440, ENST00000577476, ENST00000577960, ENST00000579117, ENST00000579478, ENST00000579637, ENST00000579860, ENST00000580188, ENST00000580285, ENST00000581056, ENST00000581885, ENST00000581980, ENST00000582698, ENST00000582724, ENST00000583457, ENST00000583676, ENST00000584857, ENST00000874175, ENST00000959869

RefSeq mRNA: 2 — MANE Select: NM_138363 NM_001316990, NM_138363

CCDS: CCDS45763

Canonical transcript exons

ENST00000556440 — 20 exons

Exon	Start	End
ENSE00002698784	64506977	64507116
ENSE00003474539	64514248	64514358
ENSE00003483355	64527111	64527264
ENSE00003483443	64531890	64532022
ENSE00003484263	64522702	64522895
ENSE00003488345	64529288	64529427
ENSE00003493462	64525770	64525882
ENSE00003521483	64516723	64516828
ENSE00003541858	64521402	64521527
ENSE00003566803	64532839	64533008
ENSE00003580763	64510173	64510280
ENSE00003602072	64536602	64536748
ENSE00003608719	64534585	64534737
ENSE00003620019	64537041	64537112
ENSE00003624628	64519321	64519436
ENSE00003629526	64530926	64531018
ENSE00003677308	64533117	64533191
ENSE00003682686	64526071	64526200
ENSE00003729483	64508592	64508720
ENSE00003850509	64537603	64537946

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 98.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.3874 / max 217.0966, expressed in 1810 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162258	13.6416	1769
162256	7.8669	1640
162262	1.2108	559
162259	1.1517	688
162260	0.7761	475
162255	0.3957	196
162257	0.3448	166

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.46	gold quality
left ovary	UBERON:0002119	98.04	gold quality
right ovary	UBERON:0002118	97.77	gold quality
calcaneal tendon	UBERON:0003701	97.72	gold quality
left lobe of thyroid gland	UBERON:0001120	97.50	gold quality
right lobe of thyroid gland	UBERON:0001119	97.44	gold quality
cerebellar hemisphere	UBERON:0002245	97.41	gold quality
cerebellar cortex	UBERON:0002129	97.18	gold quality
endocervix	UBERON:0000458	97.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.15	gold quality
mucosa of stomach	UBERON:0001199	97.09	gold quality
thyroid gland	UBERON:0002046	97.09	gold quality
tibial nerve	UBERON:0001323	97.08	gold quality
skin of abdomen	UBERON:0001416	97.04	gold quality
body of uterus	UBERON:0009853	96.91	gold quality
skin of leg	UBERON:0001511	96.89	gold quality
left testis	UBERON:0004533	96.65	gold quality
right testis	UBERON:0004534	96.60	gold quality
ectocervix	UBERON:0012249	96.60	gold quality
left uterine tube	UBERON:0001303	96.43	gold quality
body of pancreas	UBERON:0001150	96.34	gold quality
ganglionic eminence	UBERON:0004023	96.34	gold quality
adenohypophysis	UBERON:0002196	96.33	gold quality
metanephros cortex	UBERON:0010533	96.33	gold quality
ovary	UBERON:0000992	96.10	gold quality
cerebellum	UBERON:0002037	95.96	gold quality
lower esophagus mucosa	UBERON:0035834	95.95	gold quality
right lung	UBERON:0002167	95.94	gold quality
ventricular zone	UBERON:0003053	95.94	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting CEP95, 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-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-892B	98.00	67.11	821
HSA-MIR-151A-3P	95.52	65.29	516

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cep95	ENSMUSG00000018372
rattus_norvegicus	Cep95	ENSRNOG00000014354

Protein

Protein identifiers

Centrosomal protein of 95 kDa — Q96GE4 (reviewed: Q96GE4)

Alternative names: Coiled-coil domain-containing protein 45

All UniProt accessions (9): B7ZAE2, H0YJW6, J3KRC3, J3KRW3, J3KS50, J3KST6, J3QLG4, K7ENV0, Q96GE4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Spindle pole.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96GE4-1	1	yes
Q96GE4-2	2

RefSeq proteins (2): NP_001303919, NP_612372* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026619	CEP95	Family
IPR044039	DUF5745	Domain

Pfam: PF19016

UniProt features (17 total): compositionally biased region 5, region of interest 3, modified residue 3, sequence variant 2, coiled-coil region 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GE4-F1	66.70	0.31

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 (3): 449, 451, 453

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER, EFC_Q6, PAX2_01, CATRRAGC_UNKNOWN, GOCC_CENTROSOME, TATA_C, NRF2_01, WHN_B, EGR1_01, GGCNNMSMYNTTG_UNKNOWN, YYCATTCAWW_UNKNOWN, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, HOXA4_Q2, GOCC_SPINDLE

GO Biological Process (0):

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

GO Cellular Component (5): spindle pole (GO:0000922), centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	1
spindle	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

716 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP95	SPICE1	Q8N0Z3	521
CEP95	PRR23C	Q6ZRP0	479
CEP95	RSPRY1	Q96DX4	386
CEP95	GLYR1	Q49A26	377
CEP95	ANAPC7	Q9UJX3	369
CEP95	FAM149B1	Q96BN6	356
CEP95	TVP23C	Q96ET8	354
CEP95	MROH6	A6NGR9	349
CEP95	A0A0A6YYB9	A0A0A6YYB9	349
CEP95	ACBD3	Q9H3P7	336
CEP95	LRRC27	Q9C0I9	328
CEP95	CYB561	P49447	323
CEP95	KLHL28	Q9NXS3	321
CEP95	UEVLD	Q8IX04	321
CEP95	ZMAT5	Q9UDW3	315

IntAct

101 interactions, top by confidence:

A	B	Type	Score
LSM3	LSM1	psi-mi:“MI:0914”(association)	0.950
CEP95	FAM9B	psi-mi:“MI:0915”(physical association)	0.670
FAM9B	CEP95	psi-mi:“MI:0915”(physical association)	0.670
CEP95	MTUS2	psi-mi:“MI:0915”(physical association)	0.670
MTUS2	CEP95	psi-mi:“MI:0915”(physical association)	0.670
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
CEP95	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
CBY2	CEP95	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	CEP95	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	CEP95	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	CEP95	psi-mi:“MI:0915”(physical association)	0.560
MCC	CEP95	psi-mi:“MI:0915”(physical association)	0.560
HOOK2	CEP95	psi-mi:“MI:0915”(physical association)	0.560
CEP95	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
CCDC125	CEP95	psi-mi:“MI:0915”(physical association)	0.560
	CEP95	psi-mi:“MI:0915”(physical association)	0.560
KRT27	CEP95	psi-mi:“MI:0915”(physical association)	0.560
CEP95	CARD10	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	CEP95	psi-mi:“MI:0915”(physical association)	0.560
CEP95	PICK1	psi-mi:“MI:0915”(physical association)	0.560
CEP95	HMG20A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (71): CEP95 (Two-hybrid), FAM9B (Two-hybrid), SPERT (Two-hybrid), CEP95 (Affinity Capture-RNA), CEP95 (Affinity Capture-RNA), CEP95 (Affinity Capture-MS), CEP95 (Affinity Capture-MS), CEP95 (Biochemical Activity), CEP95 (Affinity Capture-MS), CEP95 (Proximity Label-MS), CEP95 (Proximity Label-MS), CEP95 (Proximity Label-MS), CEP95 (Proximity Label-MS), CEP95 (Proximity Label-MS), CEP95 (Proximity Label-MS)

ESM2 similar proteins: A0A1W2P884, A2RUB6, A7E3D8, A8MT70, B0CM36, B2RYR0, F1PZQ5, O95447, Q0IIM1, Q0P5X1, Q2KHM9, Q2T9X8, Q4KLH6, Q4R3Q7, Q4R6Q9, Q5NVK0, Q5R7F8, Q5RBD6, Q5RBY6, Q5RC32, Q5RD75, Q5SZL2, Q5TB80, Q5TID7, Q5VX52, Q5XI03, Q6A000, Q6NS45, Q6NZK5, Q6ZPR1, Q6ZQ06, Q7Z4H7, Q80VP2, Q80XJ2, Q80ZU5, Q86T90, Q86YF9, Q8BMD2, Q8IYW5, Q8N0Z3

Diamond homologs: Q5XI03, Q8BVV7, Q96GE4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 63 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
Activation of BAD and translocation to mitochondria	6	130.5×	2e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	115.2×	3e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	115.2×	3e-10
Activation of BH3-only proteins	7	99.3×	7e-11
Intrinsic Pathway for Apoptosis	7	58.6×	7e-10
RHO GTPases activate PKNs	6	54.4×	3e-08
Apoptosis	7	33.6×	3e-08
Translocation of SLC2A4 (GLUT4) to the plasma membrane	7	30.9×	5e-08

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	8	15.5×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	123
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3366 predictions. Top by Δscore:

Variant	Effect	Δscore
17:64507113:GCTG:G	donor_gain	1.0000
17:64507114:CTGG:C	donor_loss	1.0000
17:64507115:TGGT:T	donor_loss	1.0000
17:64507117:G:GG	donor_gain	1.0000
17:64507117:GTGA:G	donor_loss	1.0000
17:64510171:A:AG	acceptor_gain	1.0000
17:64510172:G:GA	acceptor_gain	1.0000
17:64514246:A:AG	acceptor_gain	1.0000
17:64514247:G:GG	acceptor_gain	1.0000
17:64514247:GGA:G	acceptor_gain	1.0000
17:64514247:GGAGA:G	acceptor_gain	1.0000
17:64514354:GAAAA:G	donor_gain	1.0000
17:64514355:AAAA:A	donor_gain	1.0000
17:64514356:AAA:A	donor_gain	1.0000
17:64514357:AA:A	donor_gain	1.0000
17:64514358:AG:A	donor_loss	1.0000
17:64514359:G:A	donor_loss	1.0000
17:64514359:G:GG	donor_gain	1.0000
17:64514360:TAA:T	donor_loss	1.0000
17:64514361:AA:A	donor_loss	1.0000
17:64516826:G:GT	donor_gain	1.0000
17:64516826:G:T	donor_gain	1.0000
17:64521471:A:G	donor_gain	1.0000
17:64521524:GACA:G	donor_gain	1.0000
17:64521528:G:GG	donor_gain	1.0000
17:64521532:GTT:G	donor_gain	1.0000
17:64522700:A:AG	acceptor_gain	1.0000
17:64522700:AGC:A	acceptor_gain	1.0000
17:64522701:G:GG	acceptor_gain	1.0000
17:64522701:GCG:G	acceptor_gain	1.0000

AlphaMissense

5415 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:64510239:T:C	L72P	0.997
17:64514290:T:C	L100P	0.997
17:64510223:G:C	A67P	0.995
17:64514293:T:C	L101P	0.995
17:64510254:T:C	L77S	0.994
17:64537041:T:C	F740L	0.994
17:64537042:T:C	F740S	0.994
17:64537043:T:A	F740L	0.994
17:64537043:T:G	F740L	0.994
17:64537661:T:C	L783P	0.994
17:64508607:C:A	A12D	0.993
17:64508616:T:C	L15P	0.993
17:64510262:A:C	S80R	0.993
17:64510264:C:A	S80R	0.993
17:64510264:C:G	S80R	0.993
17:64510266:T:C	L81S	0.993
17:64514299:T:A	I103K	0.993
17:64537059:G:C	A746P	0.993
17:64510235:T:C	S71P	0.992
17:64510239:T:A	L72Q	0.992
17:64510275:T:A	I84K	0.992
17:64537053:G:C	A744P	0.992
17:64514299:T:G	I103R	0.990
17:64536660:T:C	L710P	0.990
17:64537628:T:C	L772P	0.990
17:64508688:T:C	L39P	0.989
17:64536615:T:C	L695P	0.989
17:64536722:T:C	S731P	0.989
17:64510275:T:G	I84R	0.988
17:64536717:T:C	L729P	0.988

dbSNP variants (sampled 300 via entrez): RS1000112549 (17:64530438 T>A), RS1000114761 (17:64511644 G>A), RS1000267629 (17:64507534 C>T), RS1000479703 (17:64504972 C>T), RS1000495801 (17:64529232 C>T), RS1000677464 (17:64506917 C>A,G,T), RS1000748155 (17:64507756 A>C), RS1000867712 (17:64522549 C>G,T), RS1000918546 (17:64522928 A>C,G), RS1001252923 (17:64521365 T>C), RS1001365573 (17:64514879 T>C,G), RS1001770082 (17:64527561 T>A,C), RS1001881724 (17:64532505 T>A,C), RS1001935506 (17:64532712 G>A), RS1002118790 (17:64509927 A>G,T)

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

3 associations (top):

Study	Trait	p-value
GCST008309_3	Cardiac troponin-I levels	3.000000e-11
GCST90013466_22	Height	4.000000e-08
GCST90013468_19	Height	2.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010071	cardiac troponin I measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
geldanamycin	increases expression	1
methylmercuric chloride	increases expression	1
quercitrin	increases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Tunicamycin	increases expression	1
Zinc	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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