FBF1

Summary

FBF1 (Fas binding factor 1, HGNC:24674) is a protein-coding gene on chromosome 17q25.1, encoding Fas-binding factor 1 (Q8TES7). Keratin-binding protein required for epithelial cell polarization.

Involved in apical junction assembly and establishment of epithelial cell polarity. Acts upstream of or within cilium assembly. Located in apical junction complex and cytoskeleton. Part of ciliary transition fiber.

Source: NCBI Gene 85302 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital analbuminemia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 24
• Clinical variants (ClinVar): 294 total — 19 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001319193

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24674
Approved symbol	FBF1
Name	Fas binding factor 1
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00103, FBF-1, KIAA1863, ALB
Ensembl gene	ENSG00000188878
Ensembl biotype	protein_coding
OMIM	616807
Entrez	85302

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000319129, ENST00000585990, ENST00000586112, ENST00000586631, ENST00000586717, ENST00000586838, ENST00000588283, ENST00000588478, ENST00000590264, ENST00000593076, ENST00000636174, ENST00000886197, ENST00000886198, ENST00000886199, ENST00000941377, ENST00000941378, ENST00000941379, ENST00000941380

RefSeq mRNA: 1 — MANE Select: NM_001319193 NM_001319193

CCDS: CCDS45779

Canonical transcript exons

ENST00000636174 — 30 exons

Exon	Start	End
ENSE00002741028	75935632	75935673
ENSE00002928792	75909574	75910806
ENSE00003570939	75938147	75938232
ENSE00003688482	75923186	75923641
ENSE00003791733	75926758	75926877
ENSE00003791881	75920274	75920429
ENSE00003792029	75917732	75917850
ENSE00003792502	75921244	75921302
ENSE00003792554	75937566	75937593
ENSE00003792670	75931229	75931289
ENSE00003793083	75929997	75930047
ENSE00003793430	75914122	75914298
ENSE00003794203	75927455	75927532
ENSE00003794212	75919668	75919874
ENSE00003794454	75926288	75926426
ENSE00003794592	75921472	75921560
ENSE00003795760	75926030	75926163
ENSE00003795822	75917931	75918070
ENSE00003796620	75940848	75941042
ENSE00003797564	75925347	75925446
ENSE00003798535	75928076	75928193
ENSE00003798578	75920007	75920107
ENSE00003798582	75913702	75913819
ENSE00003798692	75918162	75918269
ENSE00003798714	75932995	75933088
ENSE00003798939	75912192	75912307
ENSE00003798996	75913913	75914050
ENSE00003799745	75914747	75914932
ENSE00003799943	75921945	75922046
ENSE00003800133	75915017	75915139

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 93.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6850 / max 106.9071, expressed in 1655 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168143	6.3172	1644
168142	0.2923	135
168141	0.0756	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	93.50	gold quality
left testis	UBERON:0004533	93.20	gold quality
right lobe of thyroid gland	UBERON:0001119	92.04	gold quality
left lobe of thyroid gland	UBERON:0001120	90.88	gold quality
right uterine tube	UBERON:0001302	90.11	gold quality
thyroid gland	UBERON:0002046	89.76	gold quality
testis	UBERON:0000473	89.71	gold quality
adenohypophysis	UBERON:0002196	87.89	gold quality
pituitary gland	UBERON:0000007	86.23	gold quality
granulocyte	CL:0000094	86.08	gold quality
lower esophagus mucosa	UBERON:0035834	84.32	gold quality
skin of abdomen	UBERON:0001416	84.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.01	gold quality
sural nerve	UBERON:0015488	83.32	gold quality
right adrenal gland	UBERON:0001233	83.24	gold quality
right adrenal gland cortex	UBERON:0035827	83.02	gold quality
right frontal lobe	UBERON:0002810	82.87	gold quality
esophagus mucosa	UBERON:0002469	82.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.22	gold quality
putamen	UBERON:0001874	81.92	gold quality
caudate nucleus	UBERON:0001873	81.82	gold quality
nucleus accumbens	UBERON:0001882	81.58	gold quality
left adrenal gland cortex	UBERON:0035825	81.57	gold quality
skin of leg	UBERON:0001511	81.55	gold quality
left adrenal gland	UBERON:0001234	81.52	gold quality
spinal cord	UBERON:0002240	81.46	gold quality
anterior cingulate cortex	UBERON:0009835	81.40	gold quality
amygdala	UBERON:0001876	81.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.23	gold quality
left ovary	UBERON:0002119	80.92	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.94

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• Keratins and the keratin-binding protein Albatross are important for epithelial cell polarization. (PMID:18838552)
• These results suggest that rs1135889 in FBF1 is not associated with leukoaraiosis (LA) risk in the Chinese population. However, the association of rs1135889 (FBF1) with LA before Bonferroni correction and Sidak correction is worth highlighting. (PMID:27583843)
• Albatross is a novel protein that spatiotemporally integrates different aspects of centrosome function, namely ciliogenesis, centriole duplication, and centrosome separation. (PMID:30318703)
• FBF1 deficiency promotes beiging and healthy expansion of white adipose tissue. (PMID:34348145)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fbf1	ENSMUSG00000020776
rattus_norvegicus	Fbf1	ENSRNOG00000008577

Protein

Protein identifiers

Fas-binding factor 1 — Q8TES7 (reviewed: Q8TES7)

Alternative names: Protein albatross

All UniProt accessions (6): A0A0R4J2E4, Q8TES7, K7EL64, K7EPQ1, K7ESG2, U3KPW3

UniProt curated annotations — full annotation on UniProt →

Function. Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis.

Subunit / interactions. May interact with FAS cytoplasmic domain. Interacts with PARD3. Interacts with TRAPPC14.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Spindle pole. Cell junction.

Tissue specificity. Present in various epithelial cells (at protein level).

Isoforms (6)

UniProt ID	Names	Canonical?
Q8TES7-1	1	yes
Q8TES7-2	2
Q8TES7-3	3
Q8TES7-4	4
Q8TES7-5	5
Q8TES7-6	6

RefSeq proteins (1): NP_001306122* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033561	FBF1	Family
IPR049390	FBF1_C	Domain

Pfam: PF21007

UniProt features (33 total): compositionally biased region 11, splice variant 9, sequence variant 4, region of interest 3, coiled-coil region 2, chain 1, modified residue 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TES7-F1	64.11	0.33

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 (2): 142, 960

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620912	Anchoring of the basal body to the plasma membrane

MSigDB gene sets: 345 (showing top): MODULE_93, MODULE_52, GOBP_MEMBRANE_DEPOLARIZATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, PID_HNF3B_PATHWAY, GOBP_ESTABLISHMENT_OF_EPITHELIAL_CELL_POLARITY, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_METABOLISM_OF_PORPHYRINS, GOBP_APICAL_JUNCTION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, HUMMERICH_BENIGN_SKIN_TUMOR_DN, HUMMERICH_MALIGNANT_SKIN_TUMOR_DN, HNF1_Q6

GO Biological Process (4): apical junction assembly (GO:0043297), cilium assembly (GO:0060271), establishment of epithelial cell polarity (GO:0090162), cell projection organization (GO:0030030)

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

GO Cellular Component (13): spindle pole (GO:0000922), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), cilium (GO:0005929), ciliary transition zone (GO:0035869), ciliary basal body (GO:0036064), anchoring junction (GO:0070161), ciliary transition fiber (GO:0097539), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), apical junction complex (GO:0043296), keratin filament (GO:0045095)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
microtubule organizing center	3
cilium	3
intracellular membraneless organelle	2
cell-cell junction assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
establishment of cell polarity	1
cellular component organization	1
binding	1
spindle	1
centriole	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cell junction	1
intracellular protein-containing complex	1
intracellular anatomical structure	1
cell-cell junction	1
intermediate filament	1

Protein interactions and networks

STRING

1206 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBF1	SCLT1	Q96NL6	974
FBF1	CEP83	Q9Y592	949
FBF1	CEP89	Q96ST8	943
FBF1	CEP164	Q9UPV0	895
FBF1	IFT54	Q8TDR0	877
FBF1	TTBK2	Q6IQ55	738
FBF1	IFT20	Q8IY31	716
FBF1	IFT88	Q13099	714
FBF1	C2CD3	Q4AC94	670
FBF1	ANKRD26	Q9UPS8	649
FBF1	CCP110	O43303	634
FBF1	CEP128	Q6ZU80	630
FBF1	MRPL38	Q96DV4	619
FBF1	CEP120	Q8N960	605
FBF1	CEP170	Q5SW79	605

IntAct

26 interactions, top by confidence:

A	B	Type	Score
HIF1AN	GMDS	psi-mi:“MI:0914”(association)	0.640
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
FBF1	TUBGCP4	psi-mi:“MI:0915”(physical association)	0.490
MAP3K5	FBF1	psi-mi:“MI:0915”(physical association)	0.400
	FBF1	psi-mi:“MI:0915”(physical association)	0.400
FBF1	ACCS	psi-mi:“MI:0915”(physical association)	0.370
FBF1	CINP	psi-mi:“MI:0915”(physical association)	0.370
FBF1	FBXL12	psi-mi:“MI:0915”(physical association)	0.370
FBF1	TSC1	psi-mi:“MI:0915”(physical association)	0.370
	FBF1	psi-mi:“MI:0915”(physical association)	0.370
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CEP128	CCDC66	psi-mi:“MI:2364”(proximity)	0.270
FBF1	CCDC85C	psi-mi:“MI:2364”(proximity)	0.270
FBF1	OFD1	psi-mi:“MI:2364”(proximity)	0.270
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
ANKRD28	TBKBP1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (181): FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid), FBF1 (Two-hybrid)

ESM2 similar proteins: A2A870, A2AUM9, B9EKI3, D3YV10, E1U8D0, E7F5E1, O54931, O75420, P39880, P53564, P55937, P60853, Q08378, Q0KK56, Q15025, Q2TAC2, Q32PN7, Q499E4, Q4KLH6, Q5T1M5, Q5U2Y9, Q5XIA0, Q5ZIB2, Q5ZLT3, Q62036, Q6AW69, Q6IPM2, Q6P2H3, Q6P9Q6, Q6PCQ0, Q6PHN1, Q6ZQ06, Q7T019, Q80ST9, Q86VQ0, Q86YF9, Q8BMD2, Q8BMK0, Q8CB62, Q8CFC9

Diamond homologs: A2A870, Q5ZIB2, Q8TES7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 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
Neddylation	7	16.6×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein ubiquitination	6	8.6×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	1
Uncertain significance	114
Likely benign	30
Benign	16

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
156314	NM_000477.7(ALB):c.166C>T (p.Gln56Ter)	Pathogenic
156319	NM_000477.7(ALB):c.228_229del (p.Val78fs)	Pathogenic
156320	NM_000477.7(ALB):c.412C>T (p.Arg138Ter)	Pathogenic
156323	NM_000477.7(ALB):c.714G>A (p.Trp238Ter)	Pathogenic
18186	NM_000477.5(ALB):c.71G>C (p.Arg24Pro)	Pathogenic
18187	NM_000477.7(ALB):c.74A>T (p.Asp25Val)	Pathogenic
18203	NM_000477.7(ALB):c.1693A>G (p.Lys565Glu)	Pathogenic
18207	NM_000477.7(ALB):c.1780G>A (p.Glu594Lys)	Pathogenic
18210	NM_000477.7(ALB):c.714-2A>G	Pathogenic
18224	NM_000477.7(ALB):c.872dup (p.Asn291fs)	Pathogenic
18238	NM_000477.7(ALB):c.725G>C (p.Arg242Pro)	Pathogenic
18239	NM_000477.7(ALB):c.269T>C (p.Leu90Pro)	Pathogenic
18240	NM_000477.7(ALB):c.79+1G>A	Pathogenic
2788444	NM_000477.7(ALB):c.1378A>T (p.Lys460Ter)	Pathogenic
4682120	NM_000477.7(ALB):c.724C>A (p.Arg242Ser)	Pathogenic
4696783	NM_000477.7(ALB):c.1020C>A (p.Cys340Ter)	Pathogenic
4720501	NM_000477.7(ALB):c.70C>T (p.Arg24Ter)	Pathogenic
4755693	NM_000477.7(ALB):c.1225C>T (p.Gln409Ter)	Pathogenic
636260	NM_000477.7(ALB):c.1098dup (p.Val367fs)	Pathogenic
2442164	NM_000477.7(ALB):c.656_659del (p.Lys219fs)	Likely pathogenic

SpliceAI

1932 predictions. Top by Δscore:

Variant	Effect	Δscore
4:73404403:GCAC:G	donor_gain	1.0000
4:73404407:G:GG	donor_gain	1.0000
4:73405109:T:TA	acceptor_gain	1.0000
4:73405111:CCCA:C	acceptor_loss	1.0000
4:73405114:A:AG	acceptor_gain	1.0000
4:73405115:G:GC	acceptor_gain	1.0000
4:73405115:GACAA:G	acceptor_gain	1.0000
4:73405169:GCCTT:G	donor_gain	1.0000
4:73405170:CCTT:C	donor_gain	1.0000
4:73405171:CTT:C	donor_gain	1.0000
4:73405174:G:GG	donor_gain	1.0000
4:73405179:T:G	donor_gain	1.0000
4:73406616:T:G	acceptor_gain	1.0000
4:73406621:T:A	acceptor_gain	1.0000
4:73406624:TTCA:T	acceptor_loss	1.0000
4:73406625:TCAG:T	acceptor_loss	1.0000
4:73406627:A:AG	acceptor_gain	1.0000
4:73406627:AG:A	acceptor_gain	1.0000
4:73406627:AGGGT:A	acceptor_gain	1.0000
4:73406628:G:A	acceptor_gain	1.0000
4:73406628:G:GA	acceptor_gain	1.0000
4:73406628:G:T	acceptor_loss	1.0000
4:73406628:GGGT:G	acceptor_gain	1.0000
4:73406628:GGGTG:G	acceptor_gain	1.0000
4:73406757:CACTT:C	donor_gain	1.0000
4:73406758:ACTT:A	donor_gain	1.0000
4:73406759:CTT:C	donor_gain	1.0000
4:73406760:TT:T	donor_gain	1.0000
4:73406760:TTG:T	donor_loss	1.0000
4:73406762:G:A	donor_loss	1.0000

AlphaMissense

7423 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:75910795:G:C	F1110L	0.983
17:75910795:G:T	F1110L	0.983
17:75910797:A:G	F1110L	0.983
17:75915022:C:G	A861P	0.978
17:75914005:C:G	A998P	0.974
17:75910774:G:C	F1117L	0.972
17:75910774:G:T	F1117L	0.972
17:75910776:A:G	F1117L	0.972
17:75914292:C:G	A926P	0.972
17:75923533:C:A	W345C	0.970
17:75923533:C:G	W345C	0.970
17:75923535:A:G	W345R	0.970
17:75923535:A:T	W345R	0.970
17:75918206:C:A	K720N	0.966
17:75918206:C:G	K720N	0.966
17:75918190:C:G	A726P	0.965
17:75914017:C:G	A994P	0.964
17:75915135:C:G	R823P	0.963
17:75918065:A:G	L737P	0.963
17:75910784:T:A	E1114V	0.962
17:75915121:C:G	A828P	0.958
17:75914913:T:G	Q869P	0.957
17:75917760:A:G	L812P	0.956
17:75918162:C:G	R735P	0.956
17:75918219:A:G	L716P	0.955
17:75910772:A:G	L1118P	0.954
17:75910793:A:G	L1111S	0.954
17:75920097:A:G	L600P	0.953
17:75914201:A:G	L956P	0.952
17:75910783:T:A	E1114D	0.951

dbSNP variants (sampled 300 via entrez): RS1000009813 (17:75941171 T>C,G), RS1000061592 (17:75932103 A>T), RS1000159244 (17:75936237 C>T), RS1000209239 (17:75913407 G>A,T), RS1000223305 (17:75937854 C>T), RS1000624397 (17:75941731 C>T), RS1000678859 (17:75937702 G>A,T), RS1000764642 (17:75929498 A>C,G), RS1000862588 (17:75917616 T>C,G), RS1000966078 (17:75936777 C>G,T), RS1000982501 (17:75918118 C>T), RS1001101744 (17:75920313 C>T), RS1001105128 (17:75940515 CAA>C), RS1001133604 (17:75921708 C>T), RS1001253932 (17:75931645 G>A,C,T)

Disease associations

OMIM: gene MIM:616807 | disease phenotypes: MIM:615999, MIM:264470

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital analbuminemia	Definitive	Autosomal recessive
hyperthyroxinemia, familial dysalbuminemic	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hyperthyroxinemia, familial dysalbuminemic	Moderate	AD
congenital analbuminemia	Definitive	AR

Mondo (5): hyperthyroxinemia, familial dysalbuminemic (MONDO:0014448), Ehlers-Danlos syndrome, arthrochalasia type (MONDO:0007525), peroxisomal acyl-CoA oxidase deficiency (MONDO:0009919), hyperthyroidism (MONDO:0004425), congenital analbuminemia (MONDO:0014449)

Orphanet (6): Congenital analbuminemia (Orphanet:86816), Arthrochalasia Ehlers-Danlos syndrome (Orphanet:1899), OBSOLETE: Ehlers-Danlos syndrome type 7A (Orphanet:99875), OBSOLETE: Ehlers-Danlos syndrome type 7B (Orphanet:99876), Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971), NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia (Orphanet:276271)

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST001392_17	Lipid metabolism phenotypes	5.000000e-18
GCST001942_8	Prostate cancer	5.000000e-13
GCST003013_1	White matter hyperintensity burden	5.000000e-19
GCST003013_15	White matter hyperintensity burden	3.000000e-19
GCST005196_227	Coronary artery disease	1.000000e-07
GCST005444_7	Esterified cholesterol levels	6.000000e-09
GCST005445_7	Free cholesterol levels	2.000000e-08
GCST005447_38	Total cholesterol levels in LDL	3.000000e-13
GCST005447_40	Total cholesterol levels in LDL	5.000000e-12
GCST005448_10	Serum total cholesterol levels	1.000000e-16
GCST005448_12	Serum total cholesterol levels	9.000000e-16
GCST005481_6	Large LDL particle concentration	6.000000e-09
GCST005483_7	Total cholesterol levels in large LDL	1.000000e-08
GCST005484_5	Cholesterol ester levels in large LDL	1.000000e-08
GCST005485_12	Free cholesterol levels in large LDL	2.000000e-08
GCST005486_7	Medium LDL particle concentration	7.000000e-10
GCST005488_7	Total cholesterol levels in medium LDL	3.000000e-09
GCST005489_8	Cholesterol ester levels in medium LDL	2.000000e-09
GCST005490_10	Small LDL particle concentration	6.000000e-21
GCST005490_8	Small LDL particle concentration	7.000000e-22
GCST005491_20	Total cholesterol levels in small LDL	1.000000e-10
GCST012442_5	Age-related hearing impairment	6.000000e-27
GCST012580_3	White matter hyperintensities	2.000000e-10
GCST012580_9	White matter hyperintensities	8.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004529	lipid measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0008589	esterified cholesterol measurement
EFO:0008591	free cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D006980	Hyperthyroidism	C19.874.397
D050010	Hyperthyroxinemia, Familial Dysalbuminemic	C16.320.427; C19.874.410.249
C562625	Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant (supp.)
C536662	Peroxisomal ACYL-COA oxidase deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
arsenite	decreases reaction, affects binding	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Gold Compounds	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00946296	PHASE4	COMPLETED	Impact of SSKI Pre-Treatment on Blood Loss in Thyroidectomy for Graves Disease
NCT03379181	PHASE4	COMPLETED	Thermogenesis in Hyperthyroidism and Effect of Anti-Adrenergic Therapy
NCT03393728	PHASE4	COMPLETED	Heart Rate Variability and Hyperthyroidism: Evaluation of the Short-term Effects of Propanolol
NCT05512715	PHASE4	COMPLETED	LIthium as Bridging thErapy Prior to Radioactiveiodine in hyperThYroidism
NCT03303053	PHASE3	UNKNOWN	Efficacy and Safety of Cholestyramine and Prednisolone as Adjunctive Therapy in Treatment of Overt Hyperthyroidism
NCT04856488	PHASE3	RECRUITING	Preoperative Lugol’s Solution in Graves’ Disease and Toxic Nodular Goiter
NCT05118542	PHASE3	COMPLETED	Effect of Hyperthyroidism and Its Treatment in Graves’ Disease to Early Marker of Atherosclerosis
NCT02203682	PHASE2	UNKNOWN	Doxycycline Treatment in Mild Thyroid-Associated Ophthalmopathy
NCT07369063	PHASE2	RECRUITING	Impact of Vitamin D Therapy on Thyroid Function and Antibody Levels in Pediatric Graves’ Disease
NCT04346901	PHASE1	COMPLETED	Comparative Study of mMASI Before and After Hyperthyroid Therapy in Hyperthyroid Subjects With Melasma
NCT01668186	Not specified	RECRUITING	Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
NCT01727973	PHASE1/PHASE2	COMPLETED	Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves’ Orbitopathy
NCT00001159	Not specified	RECRUITING	Natural History of Thyroid Function Disorders
NCT00151723	Not specified	UNKNOWN	Does Radioiodine Treatment Prevent Atrial Fibrillation and Bone Loss in Endogenous Subclinical Hyperthyroidism?
NCT00437931	Not specified	COMPLETED	Color Flow Doppler Ultrasound in Subclinical Thyroid Dysfunction
NCT00471458	Not specified	COMPLETED	Follow-up Study of the RAI-Treated Hyperthyroid Patients
NCT00525122	Not specified	UNKNOWN	Treatment of M.Graves With Radioactive Iodine: Follow-up Study
NCT00796913	Not specified	COMPLETED	Remission Induction and Sustenance in Graves’ Disease 2
NCT00822289	Not specified	UNKNOWN	The Effect of Radioactive Iodine Administration for Thyroid Diseases on H.Pylori Eradication
NCT01095341	Not specified	COMPLETED	Postoperative Hyperthyroidism
NCT01105923	Not specified	UNKNOWN	Study of an Intervention to Improve Problem List Accuracy and Use
NCT01145040	Not specified	UNKNOWN	NOMOTHETICOS: Nonlinear Modelling of Thyroid Hormones’ Effect on Thyrotropin Incretion in Confirmed Open-loop Situation
NCT01306916	Not specified	COMPLETED	Coexisting Thyroid Disease and Hyperparathyroidism
NCT01376648	Not specified	UNKNOWN	Thyroid Hormones Effect on Brown Adipose Tissue
NCT01945229	Not specified	TERMINATED	Thumb-ECG Ambulant Screening for Atrial Fibrillation in Patients Treated for Hyperthyroidism (TAMBOURINE)
NCT02005250	Not specified	COMPLETED	Bone Structure and Strength Evaluated by Extreme-CT Scan Before and After Treatment of Hyper- and Hypothyroidism
NCT02107794	Not specified	COMPLETED	Shared Decision Making in Graves Disease - Graves Disease (GD) Choice
NCT02133040	Not specified	UNKNOWN	Effects of Hyperthyroidism on Amount and Activity of Brown Adipose Tissue
NCT02190214	Not specified	COMPLETED	Thyroid Disorders in Malaysia: A Nationwide Multicentre Study
NCT02375451	Not specified	COMPLETED	Effect of Childhood Radioiodine Therapy on Salivary Function
NCT02499471	Not specified	COMPLETED	Brown Adipose Tissue Activity and Thyroid Hormone
NCT02514187	Not specified	COMPLETED	A Blinded Study Evaluating the Accuracy and Safety of Cyclotron-produced 99mTc in Adult Patients
NCT02710799	Not specified	COMPLETED	Evaluation of the Effects of Teleconsultations on a Endocrinology Referral List
NCT02772705	Not specified	UNKNOWN	Comparison of SUV Using SPECT/CT Between Grave’s Disease Patients and Normal Humans
NCT02812888	Not specified	UNKNOWN	Serum Betatrophin Levels and Its Influencing Factors in Patients With Hyperthyroidism
NCT03064542	Not specified	COMPLETED	The Role of Thyroid Status in Regulating Brown Adipose Tissue Activity, White Adipose Tissue Partitioning and Resting Energy Expenditure
NCT03434067	Not specified	UNKNOWN	The Application of Rapid PTH Test Paper in Operation of Hyperparathyroidism
NCT03444246	Not specified	UNKNOWN	A Trial for the Evaluation of the Treatment and Outcome of Hyperthyroidism With Iodized Salt and Non Iodized Salt
NCT03612908	Not specified	COMPLETED	TSHβX1 and D2 THR92ALA in Pregnancy
NCT03823859	Not specified	COMPLETED	Metabolomics of Thyroid Hormones