CEP128

Summary

CEP128 (centrosomal protein 128, HGNC:20359) is a protein-coding gene on chromosome 14q31.1, encoding Centrosomal protein 128 (Q6ZU80). Is involved in the negative regulation of ciliogenesis and plays a role in spermatogenesis.

Involved in protein localization. Located in Golgi apparatus; microtubule cytoskeleton; and nuclear membrane. Part of centriolar subdistal appendage.

Source: NCBI Gene 145508 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 229 total — 3 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_152446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20359
Approved symbol	CEP128
Name	centrosomal protein 128
Location	14q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000100629
Ensembl biotype	protein_coding
OMIM	620667
Entrez	145508

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 17 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000216517, ENST00000281129, ENST00000553717, ENST00000554298, ENST00000554368, ENST00000554502, ENST00000554728, ENST00000554827, ENST00000555265, ENST00000555529, ENST00000556042, ENST00000556061, ENST00000556800, ENST00000556981, ENST00000557377, ENST00000557411, ENST00000907054, ENST00000933391, ENST00000933392, ENST00000933393, ENST00000933394, ENST00000933395, ENST00000947694

RefSeq mRNA: 1 — MANE Select: NM_152446 NM_152446

CCDS: CCDS32130

Canonical transcript exons

ENST00000555265 — 25 exons

Exon	Start	End
ENSE00000659433	80530809	80530886
ENSE00001135697	80559279	80559302
ENSE00001432887	80939385	80939540
ENSE00001653087	80862757	80862873
ENSE00001660148	80761437	80761613
ENSE00001670529	80838204	80838278
ENSE00001671034	80905955	80906081
ENSE00001692687	80756892	80756951
ENSE00001694262	80743075	80743267
ENSE00001704494	80792760	80793110
ENSE00001707239	80777882	80778046
ENSE00001713256	80840682	80840768
ENSE00001715118	80831143	80831294
ENSE00001724444	80899938	80900029
ENSE00001725949	80895718	80895790
ENSE00001754412	80580374	80580423
ENSE00001793773	80784895	80785545
ENSE00001797543	80904813	80904931
ENSE00001799717	80836205	80836337
ENSE00002507782	80941581	80941738
ENSE00002510495	80496479	80497582
ENSE00003470686	80526869	80526982
ENSE00003504666	80914322	80914408
ENSE00003508511	80916401	80916562
ENSE00003688644	80504912	80505020

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 91.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7894 / max 150.3499, expressed in 1399 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144285	4.1353	1245
144284	1.1813	592
144286	0.8821	513
144287	0.2677	58
144283	0.1347	38
144288	0.1115	41
144289	0.0406	16
144290	0.0361	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	91.34	gold quality
thymus	UBERON:0002370	90.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.24	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.15	gold quality
sural nerve	UBERON:0015488	84.94	gold quality
ventricular zone	UBERON:0003053	83.85	gold quality
calcaneal tendon	UBERON:0003701	83.60	gold quality
left lobe of thyroid gland	UBERON:0001120	83.37	gold quality
right lobe of thyroid gland	UBERON:0001119	82.93	gold quality
thyroid gland	UBERON:0002046	82.37	gold quality
ganglionic eminence	UBERON:0004023	79.40	gold quality
colonic epithelium	UBERON:0000397	79.24	gold quality
buccal mucosa cell	CL:0002336	78.46	silver quality
endothelial cell	CL:0000115	78.25	gold quality
right uterine tube	UBERON:0001302	76.66	gold quality
bone marrow	UBERON:0002371	75.26	gold quality
tonsil	UBERON:0002372	75.08	gold quality
tendon	UBERON:0000043	74.56	gold quality
vermiform appendix	UBERON:0001154	73.49	gold quality
cortical plate	UBERON:0005343	73.42	gold quality
bronchial epithelial cell	CL:0002328	73.18	gold quality
stromal cell of endometrium	CL:0002255	72.68	gold quality
lymph node	UBERON:0000029	72.34	gold quality
bronchus	UBERON:0002185	71.71	gold quality
skin of abdomen	UBERON:0001416	71.69	gold quality
spleen	UBERON:0002106	70.86	gold quality
leukocyte	CL:0000738	70.65	gold quality
skin of leg	UBERON:0001511	70.60	gold quality
monocyte	CL:0000576	70.37	gold quality
smooth muscle tissue	UBERON:0001135	70.34	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting CEP128, 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-190A-3P	100.00	80.35	5520
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6516-3P	99.65	68.57	1238

Literature-anchored findings (GeneRIF, showing 5)

• CEP128 loss affects TGF-beta1-induced phosphorylation of multiple proteins that regulate cilium-associated vesicle trafficking. (PMID:29514088)
• This study highlight the crucial role of CEP128 in the pathogenesis of Grave’s disease. (PMID:30393005)
• Cep128 deletion decreased the stability of centriolar microtubules. Cep128 associates with Odf2. (PMID:30623524)
• Downregulation of Circ-CEP128 Enhances the Paclitaxel Sensitivity of Cervical Cancer Through Regulating miR-432-5p/MCL1. (PMID:35391656)
• Modulation Effects of the CEP128 Gene on Radiotherapy-Related Brain Injury: A Longitudinal Structural Study Using Multi-Parametric Brain MR Images. (PMID:37249021)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cep128	ENSMUSG00000061533
rattus_norvegicus	Cep128	ENSRNOG00000003908

Protein

Protein identifiers

Centrosomal protein 128 — Q6ZU80 (reviewed: Q6ZU80)

Alternative names: Centrosomal protein of 128 kDa

All UniProt accessions (9): Q6ZU80, G3V3F4, G3V3U2, G3V4J9, H0YIZ9, H0YJD7, H0YJE3, H0YJH2, Q86TS1

UniProt curated annotations — full annotation on UniProt →

Function. Is involved in the negative regulation of ciliogenesis and plays a role in spermatogenesis. Contributes to the regulation of the TGFB/BMP signaling pathway at the primary cilium, where it is required for ciliary localization of RAB11A, likely affecting the trafficking and regulation of TGFB/BMP pathway components. Required, together with ODF2, for the formation of the subdistal appendage of the centriole.

Subunit / interactions. Interacts with ODF2; the interaction is required for the formation of the subdistal appendage of the centriole.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body. Spindle pole.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6ZU80-2	2	yes
Q6ZU80-1	1
Q6ZU80-3	3

RefSeq proteins (1): NP_689659* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026652	CEP128	Family

UniProt features (26 total): region of interest 5, modified residue 5, compositionally biased region 4, splice variant 4, sequence variant 3, sequence conflict 2, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZU80-F1	74.92	0.26

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): 31, 249, 291, 331, 1061

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 147 (showing top): AAGCAAT_MIR137, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MOTILE_CILIUM_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOCC_SPINDLE, chr14q31

GO Biological Process (5): intracellular protein localization (GO:0008104), regulation of gene expression (GO:0010468), motile cilium assembly (GO:0044458), sperm flagellum assembly (GO:0120316), spermatogenesis (GO:0007283)

GO Molecular Function (0):

GO Cellular Component (10): spindle pole (GO:0000922), Golgi apparatus (GO:0005794), centrosome (GO:0005813), centriole (GO:0005814), nuclear membrane (GO:0031965), ciliary basal body (GO:0036064), centriolar subdistal appendage (GO:0120103), sperm head-tail coupling apparatus (GO:0120212), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule organizing center	3
developmental process involved in reproduction	2
intracellular membraneless organelle	2
cilium	2
macromolecule localization	1
gene expression	1
regulation of macromolecule biosynthetic process	1
cilium assembly	1
spermatid development	1
flagellated sperm motility	1
motile cilium assembly	1
male gamete generation	1
spindle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1
nucleus	1
nuclear envelope	1
organelle membrane	1
intracellular protein-containing complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

966 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP128	CEP170	Q5SW79	970
CEP128	CCDC120	Q96HB5	898
CEP128	CCDC68	Q9H2F9	873
CEP128	CNTRL	Q7Z7A1	842
CEP128	NIN	Q8N4C6	826
CEP128	CEP89	Q96ST8	745
CEP128	ODF1	Q14990	735
CEP128	ODF2	Q5BJF6	719
CEP128	CEP164	Q9UPV0	709
CEP128	SCLT1	Q96NL6	698
CEP128	CEP83	Q9Y592	652
CEP128	FBF1	Q8TES7	630
CEP128	STON2	Q8WXE9	597
CEP128	TUBE1	Q9UJT0	564
CEP128	CEP131	Q9UPN4	561

IntAct

29 interactions, top by confidence:

A	B	Type	Score
CEP128	PCM1	psi-mi:“MI:0914”(association)	0.420
CEP128	VIM	psi-mi:“MI:0915”(physical association)	0.400
OFD1	CCDC14	psi-mi:“MI:0914”(association)	0.350
HDAC1	ZBTB43	psi-mi:“MI:0914”(association)	0.350
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.350
CDK5RAP2	SPTBN2	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
POC5	PDHX	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SYT5	psi-mi:“MI:0914”(association)	0.350
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
S100A4	VWA8	psi-mi:“MI:0914”(association)	0.350
TSNAX	RGPD3	psi-mi:“MI:0914”(association)	0.350
INKA2	CDC42BPA	psi-mi:“MI:0914”(association)	0.350
	NFIB	psi-mi:“MI:0914”(association)	0.350
ODF2	DDX3X	psi-mi:“MI:2364”(proximity)	0.270
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	ANKRD28	psi-mi:“MI:2364”(proximity)	0.270
NIN	AP3D1	psi-mi:“MI:2364”(proximity)	0.270
ODF2	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP135	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CNTRL	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
NIN	ARPC3	psi-mi:“MI:2364”(proximity)	0.270
POC5	PSMD14	psi-mi:“MI:2364”(proximity)	0.270
CEP63	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
CEP128	yerA	psi-mi:“MI:0915”(physical association)	0.000
CEP128	recN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (333): CEP128 (Affinity Capture-RNA), CEP128 (Affinity Capture-MS), CEP128 (Affinity Capture-MS), CEP128 (Proximity Label-MS), CEP128 (Proximity Label-MS), CEP128 (Proximity Label-MS), CEP128 (Proximity Label-MS), CEP135 (Affinity Capture-Western), CEP162 (Affinity Capture-Western), KIAA0753 (Affinity Capture-Western), PCM1 (Affinity Capture-Western), SSX2IP (Affinity Capture-Western), ABLIM1 (Proximity Label-MS), ACTR2 (Proximity Label-MS), ADSL (Proximity Label-MS)

ESM2 similar proteins: A0A2R8QCI3, A0JMK8, A3KGV1, A7YH32, A9X1A5, B0KWC9, B6MFW3, B8JK76, G5E861, G9G127, O35550, O35551, P59242, P85120, Q15276, Q3V6T2, Q502I3, Q5BJF6, Q5RG45, Q5SNZ0, Q5TZ80, Q5ZJ27, Q5ZKK5, Q66GS9, Q66KE8, Q6AYX5, Q6DIX6, Q6NRB0, Q6P402, Q6P5D4, Q6PGZ0, Q6VGS5, Q6ZU80, Q7TMK6, Q80UF4, Q80YF0, Q80YT7, Q86SQ7, Q8BIL5, Q8CJ99

Diamond homologs: Q6ZU80, Q8BI22

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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	55.5×	2e-09
Loss of proteins required for interphase microtubule organization from the centrosome	7	55.5×	2e-09
AURKA Activation by TPX2	7	53.3×	2e-09
Recruitment of mitotic centrosome proteins and complexes	7	47.6×	3e-09
Regulation of PLK1 Activity at G2/M Transition	7	44.4×	4e-09
Recruitment of NuMA to mitotic centrosomes	7	40.8×	7e-09
Anchoring of the basal body to the plasma membrane	7	39.6×	7e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	169
Likely benign	29
Benign	5

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
2696574	NM_000369.5(TSHR):c.69del (p.Cys24fs)	Pathogenic
2770278	NM_000369.5(TSHR):c.22C>T (p.Gln8Ter)	Pathogenic
2901036	NM_000369.5(TSHR):c.87C>A (p.Cys29Ter)	Pathogenic
3063337	GRCh37/hg19 14q31.1-31.3(chr14:79782316-86358101)x3	Likely pathogenic
4055803	NM_000369.5(TSHR):c.3G>A (p.Met1Ile)	Likely pathogenic
4086209	NM_000369.5(TSHR):c.96del (p.Gln33fs)	Likely pathogenic

SpliceAI

6734 predictions. Top by Δscore:

Variant	Effect	Δscore
14:80504905:TAC:T	donor_loss	1.0000
14:80504906:ACT:A	donor_loss	1.0000
14:80504907:CTT:C	donor_loss	1.0000
14:80504908:T:TA	donor_loss	1.0000
14:80504909:T:TG	donor_loss	1.0000
14:80504910:A:AC	donor_gain	1.0000
14:80504910:ACAGT:A	donor_loss	1.0000
14:80504911:C:CA	donor_gain	1.0000
14:80504911:CA:C	donor_gain	1.0000
14:80504911:CAG:C	donor_gain	1.0000
14:80504911:CAGTT:C	donor_gain	1.0000
14:80505019:CC:C	acceptor_gain	1.0000
14:80505020:CC:C	acceptor_gain	1.0000
14:80505021:C:CC	acceptor_gain	1.0000
14:80526867:A:AC	donor_gain	1.0000
14:80526868:C:CC	donor_gain	1.0000
14:80526869:TTTGA:T	donor_gain	1.0000
14:80526870:TTGAA:T	donor_gain	1.0000
14:80526889:A:AC	donor_gain	1.0000
14:80526890:C:CC	donor_gain	1.0000
14:80530717:T:TA	donor_gain	1.0000
14:80530766:A:AC	donor_gain	1.0000
14:80530767:C:CC	donor_gain	1.0000
14:80530798:CT:C	donor_gain	1.0000
14:80530807:A:AC	donor_gain	1.0000
14:80530808:C:CC	donor_gain	1.0000
14:80530808:CT:C	donor_gain	1.0000
14:80530885:CT:C	acceptor_gain	1.0000
14:80530887:C:CC	acceptor_gain	1.0000
14:80568952:AACTG:A	donor_gain	1.0000

AlphaMissense

7229 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:80743260:A:G	L874P	0.996
14:80743251:A:G	L877P	0.995
14:80743255:A:G	W876R	0.992
14:80743255:A:T	W876R	0.992
14:80743239:A:G	L881P	0.991
14:80785016:A:G	L697P	0.988
14:80785037:C:G	R690P	0.988
14:80792864:C:G	A486P	0.987
14:80761540:A:G	L817P	0.986
14:80756892:C:A	K871N	0.985
14:80756892:C:G	K871N	0.985
14:80785007:A:G	L700P	0.985
14:80784921:C:G	A729P	0.983
14:80784953:A:G	L718P	0.982
14:80756911:C:G	R865P	0.981
14:80761514:A:G	S826P	0.981
14:80862848:A:G	L224P	0.981
14:80914392:A:G	L55P	0.981
14:80756909:A:G	W866R	0.980
14:80756909:A:T	W866R	0.980
14:80761478:C:G	A838P	0.980
14:80785166:A:G	L647P	0.980
14:80862851:C:G	R223P	0.980
14:80761477:G:T	A838D	0.979
14:80743262:T:A	K873N	0.978
14:80743262:T:G	K873N	0.978
14:80756903:C:G	A868P	0.978
14:80784899:A:G	L736P	0.978
14:80761552:A:G	L813P	0.977
14:80792843:A:G	W493R	0.976

dbSNP variants (sampled 300 via entrez): RS1000004701 (14:80489294 C>A,T), RS1000008020 (14:80567964 C>T), RS1000019663 (14:80499357 G>A), RS1000024515 (14:80494258 T>C,G), RS1000035704 (14:80737172 G>A), RS1000036013 (14:80808811 T>C), RS1000037302 (14:80662538 A>G,T), RS1000041209 (14:80821139 C>G,T), RS1000043947 (14:80695980 C>G,T), RS1000044974 (14:80863742 G>C,T), RS1000045554 (14:80569094 T>C), RS1000048281 (14:80658491 A>G), RS1000052681 (14:80577069 T>A,C), RS1000055496 (14:80919213 A>T), RS1000057043 (14:80896396 A>G)

Disease associations

OMIM: gene MIM:620667 | disease phenotypes: MIM:275200, MIM:603373, MIM:609152, MIM:275000

GenCC curated gene-disease

Mondo (4): hypothyroidism due to TSH receptor mutations (MONDO:0010142), familial gestational hyperthyroidism (MONDO:0011309), familial hyperthyroidism due to mutations in TSH receptor (MONDO:0012203), Graves disease, susceptibility to, 1 (MONDO:0100489)

Orphanet (3): Familial hyperthyroidism due to mutations in TSH receptor (Orphanet:424), Hypothyroidism due to TSH receptor mutations (Orphanet:90673), Familial gestational hyperthyroidism (Orphanet:99819)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003124_8	Mild influenza (H1N1) infection	3.000000e-08
GCST003264_1043	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST007200_1	Radiation-induced brain injury in nasopharyngeal carcinoma	6.000000e-09
GCST007200_2	Radiation-induced brain injury in nasopharyngeal carcinoma	3.000000e-07
GCST010653_77	Thyroid stimulating hormone levels	9.000000e-17

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004713	FEV/FVC ratio
EFO:0009704	radiation-induced brain injury

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C566384	Hyperthyroidism, Familial Gestational (supp.)
C563786	Hyperthyroidism, Nonautoimmune (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, increases methylation	3
Benzo(a)pyrene	decreases expression	3
sodium arsenite	increases abundance, increases expression	2
Resveratrol	affects cotreatment, increases expression	2
Acetaminophen	increases expression	2
Valproic Acid	decreases expression, increases expression	2
Aflatoxin B1	increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases methylation	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
incobotulinumtoxinA	decreases expression	1
Dasatinib	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns