CEP295

Summary

CEP295 (centrosomal protein 295, HGNC:29366) is a protein-coding gene on chromosome 11q21, encoding Centrosomal protein of 295 kDa (Q9C0D2). Centriole-enriched microtubule-binding protein involved in centriole biogenesis.

Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytoplasm and microtubule cytoskeleton.

Source: NCBI Gene 85459 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 468 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 58
• MANE Select transcript: NM_033395

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29366
Approved symbol	CEP295
Name	centrosomal protein 295
Location	11q21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166004
Ensembl biotype	protein_coding
OMIM	617728
Entrez	85459

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000325212, ENST00000529185, ENST00000530425, ENST00000531404, ENST00000531622, ENST00000531700, ENST00000531877

RefSeq mRNA: 1 — MANE Select: NM_033395 NM_033395

CCDS: CCDS44708

Canonical transcript exons

ENST00000325212 — 30 exons

Exon	Start	End
ENSE00001098890	93706745	93706897
ENSE00001098892	93702776	93702919
ENSE00001196153	93721954	93722050
ENSE00001196157	93721312	93721412
ENSE00001598689	93729614	93729781
ENSE00001601754	93728681	93728821
ENSE00001604237	93726976	93727637
ENSE00001607382	93723041	93723289
ENSE00001647333	93724254	93724375
ENSE00001770749	93729870	93729969
ENSE00001795869	93729434	93729530
ENSE00001803608	93730049	93730148
ENSE00002164396	93661682	93661774
ENSE00003460300	93679412	93679552
ENSE00003470758	93683559	93683742
ENSE00003485084	93702460	93702637
ENSE00003579692	93669677	93669770
ENSE00003594720	93696320	93696417
ENSE00003600740	93725651	93725831
ENSE00003622643	93666682	93666815
ENSE00003633523	93667607	93667807
ENSE00003635094	93695497	93695634
ENSE00003637206	93696682	93700186
ENSE00003637230	93675571	93675666
ENSE00003646600	93691683	93691775
ENSE00003647665	93687644	93687865
ENSE00003649006	93683964	93684128
ENSE00003653409	93691927	93692030
ENSE00003661589	93668808	93668932
ENSE00003742008	93730231	93730358

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 95.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.7781 / max 559.7910, expressed in 1762 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116234	17.7781	1762

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.98	gold quality
secondary oocyte	CL:0000655	95.07	gold quality
sperm	CL:0000019	91.96	gold quality
tendon of biceps brachii	UBERON:0008188	88.76	gold quality
ventricular zone	UBERON:0003053	88.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.93	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.65	gold quality
tendon	UBERON:0000043	86.13	gold quality
calcaneal tendon	UBERON:0003701	85.72	gold quality
ganglionic eminence	UBERON:0004023	85.55	gold quality
Brodmann (1909) area 23	UBERON:0013554	84.46	gold quality
cerebellar hemisphere	UBERON:0002245	84.24	gold quality
cerebellar cortex	UBERON:0002129	84.15	gold quality
thymus	UBERON:0002370	83.87	gold quality
cerebellum	UBERON:0002037	83.80	gold quality
epithelial cell of pancreas	CL:0000083	83.79	silver quality
adrenal tissue	UBERON:0018303	83.57	gold quality
buccal mucosa cell	CL:0002336	83.50	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.39	gold quality
endothelial cell	CL:0000115	83.37	gold quality
primary visual cortex	UBERON:0002436	82.91	gold quality
pylorus	UBERON:0001166	82.87	gold quality
corpus callosum	UBERON:0002336	82.23	gold quality
seminal vesicle	UBERON:0000998	81.84	gold quality
occipital lobe	UBERON:0002021	81.73	gold quality
bone marrow	UBERON:0002371	81.63	gold quality
cerebellar vermis	UBERON:0004720	81.63	gold quality
oviduct epithelium	UBERON:0004804	81.61	gold quality
cortical plate	UBERON:0005343	81.39	gold quality
mucosa of stomach	UBERON:0001199	81.20	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.19
E-MTAB-7303	no	116.66

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

• data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1. (PMID:20844083)
• A newborn centriole-enriched protein, KIAA1731/CEP295, specifically mediates centriole-to-centrosome conversion but dispensable for cartwheel removal. (PMID:25131205)
• our results indicate that CEP295 directly interacts with microtubules, and that excess CEP295 could induce the assembly of overly long centrioles. Furthermore, exogenous expression of the N-terminal domain of CEP295 exerts a dominant-negative effect on centriole elongation. Collectively, these findings suggest that CEP295 is essential for building the distal half centrioles and for post-translational modification of centr (PMID:27185865)
• Study shows that the interaction between Cep295 and Cep192 seems to be crucial for the integrity of centriole structure and also for daughter-to-mother centriole conversion. (PMID:27562453)
• Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women. (PMID:34418690)
• Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. (PMID:38154379)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	alms1	ENSDARG00000074779
mus_musculus	Cep295	ENSMUSG00000046111
rattus_norvegicus	Cep295	ENSRNOG00000010999

Paralogs (3): ALMS1 (ENSG00000116127), C10orf90 (ENSG00000154493), CEP295NL (ENSG00000178404)

Protein

Protein identifiers

Centrosomal protein of 295 kDa — Q9C0D2 (reviewed: Q9C0D2)

All UniProt accessions (5): E9PJG3, E9PJY3, Q9C0D2, E9PM20, H0YDK0

UniProt curated annotations — full annotation on UniProt →

Function. Centriole-enriched microtubule-binding protein involved in centriole biogenesis. Essential for the generation of the distal portion of new-born centrioles in a CPAP- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure. Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles. Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement. Binds to and stabilizes centriolar microtubule. May be involved in ciliogenesis.

Subunit / interactions. Interacts (via ALMS motif) with microtubules; this interaction is direct.

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

Disease relevance. Seckel syndrome 11 (SCKL11) [MIM:620767] A form of Seckel syndrome, a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The N-terminal and the ALMS motif-containing C-terminal regions are essential for CEP295-mediated centriole elongation.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9C0D2-1	1	yes
Q9C0D2-2	2
Q9C0D2-3	3
Q9C0D2-4	4

RefSeq proteins (1): NP_203753* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029299	ALMS_motif	Domain

Pfam: PF15309

UniProt features (45 total): sequence variant 10, region of interest 7, sequence conflict 7, coiled-coil region 6, compositionally biased region 5, modified residue 5, splice variant 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9C0D2-F1	44.76	0.09

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 (5): 14, 654, 938, 1637, 2473

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 235 (showing top): GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CENTRIOLE_REPLICATION, GOBP_CENTRIOLE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PROTEIN_ACETYLATION, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_ACETYLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_ACETYLATION

GO Biological Process (7): centriole replication (GO:0007099), positive regulation of centrosome duplication (GO:0010825), cell projection organization (GO:0030030), regulation of centriole replication (GO:0046599), positive regulation of protein acetylation (GO:1901985), positive regulation of centriole elongation (GO:1903724), positive regulation of establishment of protein localization (GO:1904951)

GO Molecular Function (1): microtubule binding (GO:0008017)

GO Cellular Component (7): cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cytoskeleton (GO:0005856), mitotic spindle microtubule (GO:1990498), spindle (GO:0005819)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
centrosome duplication	2
regulation of centrosome duplication	2
cellular anatomical structure	2
microtubule organizing center	2
cell cycle process	1
centriole assembly	1
positive regulation of cell cycle process	1
cellular component organization	1
centriole replication	1
regulation of organelle assembly	1
protein acetylation	1
positive regulation of protein modification process	1
regulation of protein acetylation	1
positive regulation of centriole replication	1
centriole elongation	1
regulation of centriole elongation	1
establishment of protein localization	1
positive regulation of biological process	1
regulation of establishment of protein localization	1
tubulin binding	1
intracellular anatomical structure	1
centriole	1
cytoplasm	1
spindle microtubule	1
mitotic spindle	1
microtubule cytoskeleton	1

Protein interactions and networks

STRING

778 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP295	CEP135	Q66GS9	845
CEP295	SASS6	Q6UVJ0	791
CEP295	CEP152	O94986	780
CEP295	CEP192	Q8TEP8	756
CEP295	POC1B	Q8TC44	719
CEP295	PLK4	O00444	699
CEP295	CPAP	Q9HC77	680
CEP295	POC5	Q8NA72	653
CEP295	CCP110	O43303	648
CEP295	PPP1R35	Q8TAP8	646
CEP295	CEP120	Q8N960	645
CEP295	RTTN	Q86VV8	622
CEP295	PCNT	O95613	609
CEP295	CNTROB	Q8N137	587
CEP295	SPICE1	Q8N0Z3	579

IntAct

41 interactions, top by confidence:

A	B	Type	Score
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
MLF1	NDC80	psi-mi:“MI:0914”(association)	0.530
SPICE1	SERPINB2	psi-mi:“MI:0914”(association)	0.530
Cep135		psi-mi:“MI:0914”(association)	0.350
Dctn3		psi-mi:“MI:0914”(association)	0.350
Cep120	TBC1D31	psi-mi:“MI:0914”(association)	0.350
CEP43	CCHCR1	psi-mi:“MI:0914”(association)	0.350
KIF11	ILVBL	psi-mi:“MI:0914”(association)	0.350
Cep131	WBP2	psi-mi:“MI:0914”(association)	0.350
OFD1	CCDC14	psi-mi:“MI:0914”(association)	0.350
CEP135	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Cep43	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Ankrd26	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Prkar2a	TBC1D31	psi-mi:“MI:0914”(association)	0.350
Lrrcc1	CCDC14	psi-mi:“MI:0914”(association)	0.350
Cep72	TBC1D31	psi-mi:“MI:0914”(association)	0.350
SNCA	SRRM1	psi-mi:“MI:0914”(association)	0.350
CCDC14	TBC1D31	psi-mi:“MI:0914”(association)	0.350
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
PB2	PIK3R2	psi-mi:“MI:0914”(association)	0.350
PB2	IPO5	psi-mi:“MI:0914”(association)	0.350
KATNAL2	CDK1	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
HSPA4	HSPA8	psi-mi:“MI:0914”(association)	0.350
CDC16	IFT56	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CFAP184	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
GOLGA6L2	GOLGA6L6	psi-mi:“MI:0914”(association)	0.350

BioGRID (93): CEP295 (Proximity Label-MS), CEP295 (Proximity Label-MS), CEP295 (Proximity Label-MS), CEP295 (Proximity Label-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS), CEP295 (Affinity Capture-MS)

ESM2 similar proteins: A2ASS6, A8DYP0, E9QMW4, G4SLH0, J7M799, M9MRD1, O15061, O43491, O55103, O70318, O75952, O77788, P07197, P08553, P08855, P11799, P12839, P16053, P27321, P51125, P54938, P57786, P82179, P83741, Q06637, Q13061, Q23551, Q28820, Q4R3X7, Q63425, Q66H38, Q696W0, Q6TS35, Q70IV5, Q7Z589, Q7ZUV7, Q86TC9, Q8BMB0, Q8TC56, Q8WZ42

Diamond homologs: A4L9P8, Q8BQ48, Q9C0D2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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	7	38.3×	5e-08
Loss of proteins required for interphase microtubule organization from the centrosome	7	38.3×	5e-08
AURKA Activation by TPX2	7	36.8×	5e-08
Recruitment of mitotic centrosome proteins and complexes	7	32.8×	8e-08
Regulation of PLK1 Activity at G2/M Transition	7	30.6×	1e-07
Recruitment of NuMA to mitotic centrosomes	7	28.1×	2e-07
Anchoring of the basal body to the plasma membrane	7	27.3×	2e-07
M Phase	6	13.7×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	6	9.8×	4e-03
cell division	7	7.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	378
Likely benign	31
Benign	20

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
3062331	NM_033395.2(CEP295):c.1630C>T (p.Gln544Ter)	Pathogenic
3062332	NM_033395.2(CEP295):c.4558C>T (p.Arg1520Ter)	Pathogenic
3062333	NM_033395.2(CEP295):c.1685C>T (p.Pro562Leu)	Pathogenic
3062334	NM_033395.2(CEP295):c.163_164del (p.Arg55fs)	Pathogenic
4292262	NM_033395.2(CEP295):c.4629del (p.Glu1544fs)	Likely pathogenic

SpliceAI

4187 predictions. Top by Δscore:

Variant	Effect	Δscore
11:93666679:CA:C	acceptor_loss	1.0000
11:93666680:A:AG	acceptor_gain	1.0000
11:93666680:AGA:A	acceptor_loss	1.0000
11:93666681:G:GA	acceptor_gain	1.0000
11:93666681:GA:G	acceptor_gain	1.0000
11:93666681:GAA:G	acceptor_gain	1.0000
11:93666681:GAAC:G	acceptor_gain	1.0000
11:93666681:GAACT:G	acceptor_gain	1.0000
11:93666816:G:GC	donor_loss	1.0000
11:93666816:G:GG	donor_gain	1.0000
11:93667598:A:AG	acceptor_gain	1.0000
11:93667599:T:G	acceptor_gain	1.0000
11:93667604:TA:T	acceptor_loss	1.0000
11:93667605:A:AG	acceptor_gain	1.0000
11:93667606:G:GA	acceptor_gain	1.0000
11:93667606:GGTTC:G	acceptor_gain	1.0000
11:93667761:C:T	donor_gain	1.0000
11:93667803:AAAAT:A	donor_gain	1.0000
11:93667804:AAAT:A	donor_gain	1.0000
11:93667805:AAT:A	donor_gain	1.0000
11:93667806:AT:A	donor_gain	1.0000
11:93667806:ATG:A	donor_loss	1.0000
11:93667807:TG:T	donor_loss	1.0000
11:93667808:GTGA:G	donor_gain	1.0000
11:93667810:GA:G	donor_gain	1.0000
11:93667811:A:AG	donor_gain	1.0000
11:93667812:G:GG	donor_gain	1.0000
11:93669672:TTAA:T	acceptor_loss	1.0000
11:93669674:A:AG	acceptor_gain	1.0000
11:93669674:AAG:A	acceptor_gain	1.0000

AlphaMissense

17145 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:93666796:G:C	R30P	0.996
11:93667611:G:C	R38P	0.992
11:93666802:T:C	L32P	0.990
11:93683715:T:C	F308L	0.990
11:93683717:T:A	F308L	0.990
11:93683717:T:G	F308L	0.990
11:93669691:G:C	R150P	0.988
11:93730140:T:C	F2587L	0.988
11:93730142:C:A	F2587L	0.988
11:93730142:C:G	F2587L	0.988
11:93666794:G:C	R29S	0.987
11:93666794:G:T	R29S	0.987
11:93666806:A:C	R33S	0.987
11:93666806:A:T	R33S	0.987
11:93666811:T:C	L35P	0.985
11:93667617:A:C	Q40P	0.984
11:93668859:G:C	A121P	0.983
11:93668880:G:C	A128P	0.982
11:93669699:G:C	A153P	0.982
11:93683584:T:C	L264P	0.982
11:93666805:G:C	R33T	0.981
11:93666747:A:C	S14R	0.980
11:93666749:T:A	S14R	0.980
11:93666749:T:G	S14R	0.980
11:93666808:T:C	L34S	0.975
11:93683716:T:C	F308S	0.975
11:93683709:T:C	F306L	0.974
11:93683711:T:A	F306L	0.974
11:93683711:T:G	F306L	0.974
11:93666793:G:C	R29T	0.973

dbSNP variants (sampled 300 via entrez): RS1000020156 (11:93675943 A>G,T), RS1000071930 (11:93719255 T>C), RS1000088376 (11:93725454 C>A), RS1000127707 (11:93700528 T>C), RS1000242835 (11:93700335 TAA>T), RS1000250716 (11:93718328 C>T), RS1000308937 (11:93669434 A>G), RS1000336557 (11:93719557 C>A,T), RS1000345613 (11:93679968 G>A), RS1000401967 (11:93687010 T>C), RS1000460405 (11:93680091 A>G), RS1000494091 (11:93682501 G>A), RS1000607237 (11:93660857 G>A), RS1000656954 (11:93666885 A>C,G), RS1000853248 (11:93692185 T>C)

Disease associations

OMIM: gene MIM:617728 | disease phenotypes: MIM:620767, MIM:249000

GenCC curated gene-disease

Mondo (2): Seckel syndrome 11 (MONDO:0958328), Meckel syndrome (MONDO:0018921)

Orphanet (1): Meckel syndrome (Orphanet:564)

HPO phenotypes

58 total (30 of 58 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000275	Narrow face
HP:0000278	Retrognathia
HP:0000319	Smooth philtrum
HP:0000340	Sloping forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000363	Abnormal earlobe morphology
HP:0000387	Absent earlobe
HP:0000411	Protruding ear
HP:0000426	Prominent nasal bridge
HP:0000444	Convex nasal ridge
HP:0000494	Downslanted palpebral fissures
HP:0000501	Glaucoma
HP:0000582	Upslanted palpebral fissure
HP:0000678	Dental crowding
HP:0000682	Abnormal dental enamel morphology
HP:0000687	Widely spaced teeth
HP:0000750	Delayed speech and language development
HP:0001159	Syndactyly
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001302	Pachygyria
HP:0001363	Craniosynostosis
HP:0001382	Joint hypermobility
HP:0001385	Hip dysplasia

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004063_122	Waist circumference adjusted for body mass index	1.000000e-19
GCST004063_18	Waist circumference adjusted for body mass index	1.000000e-08
GCST004250_37	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	4.000000e-06
GCST009856_43	Leukocyte telomere length	7.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0007965	response to combination chemotherapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
homosalate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
Irinotecan	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Polystyrenes	affects cotreatment, increases expression	1
Aflatoxin M1	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01401998	Not specified	RECRUITING	ARPKD Database Study