BTBD9

Summary

BTBD9 (BTB domain containing 9, HGNC:21228) is a protein-coding gene on chromosome 6p21.2, encoding BTB/POZ domain-containing protein 9 (Q96Q07).

This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described.

Source: NCBI Gene 114781 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_001099272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21228
Approved symbol	BTBD9
Name	BTB domain containing 9
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1880, dJ322I12.1
Ensembl gene	ENSG00000183826
Ensembl biotype	protein_coding
OMIM	611237
Entrez	114781

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000314100, ENST00000328403, ENST00000419706, ENST00000481247, ENST00000497373, ENST00000498633, ENST00000649492, ENST00000886894

RefSeq mRNA: 4 — MANE Select: NM_001099272 NM_001099272, NM_001172418, NM_052893, NM_152733

CCDS: CCDS43458, CCDS47418, CCDS54998

Canonical transcript exons

ENST00000481247 — 11 exons

Exon	Start	End
ENSE00001581047	38592576	38592840
ENSE00001589656	38580218	38580437
ENSE00001809624	38639800	38639929
ENSE00001919681	38577600	38577719
ENSE00001953241	38597910	38598121
ENSE00001956531	38168451	38175182
ENSE00003465941	38593964	38594327
ENSE00003480400	38288272	38288461
ENSE00003516455	38256409	38256516
ENSE00003562894	38344984	38345093
ENSE00003633058	38192519	38192597

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 87.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.8064 / max 169.2450, expressed in 1655 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73460	5.0362	1570
73458	1.6176	401
73459	0.7287	308
73456	0.2932	140
73457	0.1307	49

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	87.71	silver quality
mucosa of paranasal sinus	UBERON:0005030	85.06	silver quality
bone marrow cell	CL:0002092	84.77	gold quality
sural nerve	UBERON:0015488	84.16	gold quality
tibialis anterior	UBERON:0001385	83.67	silver quality
calcaneal tendon	UBERON:0003701	83.50	gold quality
middle temporal gyrus	UBERON:0002771	83.42	gold quality
adrenal tissue	UBERON:0018303	83.24	gold quality
lower lobe of lung	UBERON:0008949	83.09	silver quality
prefrontal cortex	UBERON:0000451	82.86	gold quality
epithelium of nasopharynx	UBERON:0001951	82.34	silver quality
nasopharynx	UBERON:0001728	82.32	silver quality
anterior cingulate cortex	UBERON:0009835	82.11	gold quality
nucleus accumbens	UBERON:0001882	82.09	gold quality
frontal cortex	UBERON:0001870	82.06	gold quality
right frontal lobe	UBERON:0002810	82.04	gold quality
neocortex	UBERON:0001950	81.90	gold quality
islet of Langerhans	UBERON:0000006	81.78	gold quality
Brodmann (1909) area 23	UBERON:0013554	81.63	gold quality
corpus callosum	UBERON:0002336	81.62	gold quality
nasal cavity epithelium	UBERON:0005384	81.60	gold quality
ileal mucosa	UBERON:0000331	81.57	gold quality
entorhinal cortex	UBERON:0002728	81.38	gold quality
superior frontal gyrus	UBERON:0002661	81.37	gold quality
cerebral cortex	UBERON:0000956	80.95	gold quality
ganglionic eminence	UBERON:0004023	80.95	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.93	gold quality
cortical plate	UBERON:0005343	80.84	gold quality
temporal lobe	UBERON:0001871	80.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

251 targeting BTBD9, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669

Literature-anchored findings (GeneRIF, showing 16)

• We have discovered a variant associated with susceptibility to periodic limb movements in sleep. (PMID:17634447)
• BTBD9, was recently linked to restless legs syndrome, periodic limb movements and iron status in humans (PMID:18363860)
• Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations. (PMID:19279021)
• BTBD9 that predispose to restless legs syndrome and periodic limb movements during sleep are also associated with Tourette syndrome (PMID:19822783)
• This is the first demonstration of a genetic influence on RLS in ESRD patients with BTBD9 being significantly associated. (PMID:21572129)
• Variants in MEIS1, BTBD9, and MAP2K5/SKOR1 confer a significant risk of restless legs syndrome in a United States population. (PMID:21925394)
• A frequent polymorphism in BTBD9 was significantly associated with serum ferritin and low iron stores in blood donors. (PMID:22486183)
• There was a statistically significant association between the variant rs9296249 of the BTBD9 gene and the TS phenotype (PMID:22914617)
• The BTBD9 gene is associated with symptoms of antipsychotic-induced restless legs syndrome in schizophrenia. (PMID:23361623)
• The results of this study BTBD9 suggest that the examined BTBD9 variants are not associated with GTS risk, but may be associated with comorbidity and tic severity in the Polish population. (PMID:24993631)
• Periodic leg movements during sleep are associated with polymorphisms in BTBD9, TOX3/BC034767, MEIS1, MAP2K5/SKOR1, and PTPRD (PMID:25142570)
• The GLO1 variations were not the source of association of the BTBD9 locus with restless legs syndrome. (PMID:26298793)
• Our findings confirm an association between the BTBD9, MEIS1, and MAP2K5/SKOR1 SNPs and periodic limb movements of sleep in an elderly cohort. (PMID:26498236)
• results confirmed the association of BTBD9 and MAP2K5/SKOR1 with primary Restless Legs Syndrome in Chinese population (PMID:28329290)
• The CRL3(BTBD9) E3 ubiquitin ligase complex targets TNFAIP1 for degradation to suppress cancer cell migration. (PMID:32327643)
• Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors. (PMID:33367529)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	btbd9	ENSDARG00000068983
mus_musculus	Btbd9	ENSMUSG00000062202
rattus_norvegicus	Btbd9	ENSRNOG00000000540
drosophila_melanogaster	BTBD9	FBGN0030228
drosophila_melanogaster	CG17068	FBGN0031098
drosophila_melanogaster	lute	FBGN0262871
caenorhabditis_elegans		WBGENE00015463

Paralogs (11): BTBD1 (ENSG00000064726), ABTB1 (ENSG00000114626), SPOP (ENSG00000121067), KBTBD4 (ENSG00000123444), BTBD3 (ENSG00000132640), BTBD2 (ENSG00000133243), SPOPL (ENSG00000144228), ABTB3 (ENSG00000151136), ABTB2 (ENSG00000166016), KLHL11 (ENSG00000178502), BTBD6 (ENSG00000184887)

Protein

Protein identifiers

BTB/POZ domain-containing protein 9 — Q96Q07 (reviewed: Q96Q07)

All UniProt accessions (4): C9J8E4, C9JVC1, Q96Q07, H7C5Z6

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Detected in the brain (at protein level). Moderately expressed in all specific brain regions examined. Expressed in the dopaminergic neurons of the substantia nigra and A11 neurons. Highly expressed in kidney and moderately expressed in all other adult and fetal tissues.

Disease relevance. Restless legs syndrome 6 (RLS6) [MIM:611185] A neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation. The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary, highly stereotypical, regularly occurring limb movements that occur during sleep. Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96Q07-1	1	yes
Q96Q07-2	2
Q96Q07-3	3

RefSeq proteins (4): NP_001092742, NP_001165889, NP_443125, NP_689946 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR000421	FA58C	Domain
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR034091	BTBD9_BACK-like_dom	Domain
IPR052407	BTB_POZ_domain_cont_9	Family

Pfam: PF00651, PF00754, PF07707

UniProt features (10 total): splice variant 3, domain 2, compositionally biased region 2, chain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96Q07-F1	88.71	0.82

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 125 (showing top): GOBP_CIRCADIAN_RHYTHM, GOBP_MEMORY, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_COGNITION, GOBP_SENSORY_PERCEPTION_OF_TEMPERATURE_STIMULUS, GOBP_BEHAVIOR, GOBP_ADULT_BEHAVIOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, GOBP_SYNAPTIC_VESICLE_RECYCLING, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_LONG_TERM_MEMORY, GOBP_INDOLE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_SYNAPTIC_SIGNALING

GO Biological Process (9): long-term memory (GO:0007616), adult locomotory behavior (GO:0008344), serotonin metabolic process (GO:0042428), circadian sleep/wake cycle, non-REM sleep (GO:0042748), circadian behavior (GO:0048512), modulation of chemical synaptic transmission (GO:0050804), sensory perception of temperature stimulus (GO:0050951), multicellular organismal-level iron ion homeostasis (GO:0060586), regulation of synaptic vesicle endocytosis (GO:1900242)

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

GO Cellular Component (2): cytoplasm (GO:0005737), glutamatergic synapse (GO:0098978)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
memory	1
locomotory behavior	1
adult behavior	1
phenol-containing compound metabolic process	1
indole-containing compound metabolic process	1
circadian sleep/wake cycle process	1
circadian sleep/wake cycle, sleep	1
rhythmic behavior	1
circadian rhythm	1
chemical synaptic transmission	1
regulation of trans-synaptic signaling	1
sensory perception	1
monoatomic cation homeostasis	1
inorganic ion homeostasis	1
multicellular organismal-level chemical homeostasis	1
regulation of endocytosis	1
synaptic vesicle endocytosis	1
regulation of synaptic vesicle recycling	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
synapse	1

Protein interactions and networks

STRING

1564 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTBD9	MAP2K5	Q13163	784
BTBD9	MEIS1	O00470	760
BTBD9	PTPRD	P23468	727
BTBD9	TOX3	O15405	710
BTBD9	GLO1	P78375	562
BTBD9	TADA3	O75528	524
BTBD9	TRIM39	Q9HCM9	512
BTBD9	ZNF12	P17014	512
BTBD9	IMMP2L	Q96T52	459
BTBD9	SALL1	Q9NSC2	455
BTBD9	ZBTB45	Q96K62	451
BTBD9	DNAH8	Q96JB1	431
BTBD9	ZNF366	Q8N895	426
BTBD9	GBX2	P52951	424
BTBD9	ZNF292	O60281	419

IntAct

78 interactions, top by confidence:

A	B	Type	Score
LSM3	LSM1	psi-mi:“MI:0914”(association)	0.950
EXOSC1	EXOSC10	psi-mi:“MI:0914”(association)	0.810
SEPTIN3	SEPTIN6	psi-mi:“MI:0914”(association)	0.800
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
CBR3	CBR1	psi-mi:“MI:0914”(association)	0.710
HSPB2	BAG3	psi-mi:“MI:0914”(association)	0.670
GLMN	FKBP5	psi-mi:“MI:0914”(association)	0.640
GLMN	CUL2	psi-mi:“MI:0914”(association)	0.640
PDIA6	TXNRD1	psi-mi:“MI:0914”(association)	0.560
SMAD2	SMAD9	psi-mi:“MI:0914”(association)	0.550
COPS5	KLHL18	psi-mi:“MI:0914”(association)	0.530
CUL3	RHOBTB1	psi-mi:“MI:0914”(association)	0.530
KIAA1143	AQR	psi-mi:“MI:0914”(association)	0.530
USP25	UBB	psi-mi:“MI:0914”(association)	0.530
GLMN	CUL1	psi-mi:“MI:0914”(association)	0.530
CUL3	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
FAM9B	GEMIN2	psi-mi:“MI:0914”(association)	0.530
FOS	BTBD9	psi-mi:“MI:0915”(physical association)	0.500
BTBD9	SHPK	psi-mi:“MI:0915”(physical association)	0.400
CTNNA1	BTBD9	psi-mi:“MI:0915”(physical association)	0.400
DCLK3	BTBD9	psi-mi:“MI:0915”(physical association)	0.370
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
NEDD8	DDX3X	psi-mi:“MI:0914”(association)	0.350
COPS6	DDX3X	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350

BioGRID (80): BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS), BTBD9 (Affinity Capture-MS)

ESM2 similar proteins: A1L0Y2, A2ALK8, A2ARP1, A2Z8S0, A4IFG2, A8XT88, B1AVZ0, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, M9MRI4, O35242, O76050, P0C644, P26045, Q18223, Q29B63, Q29RQ5, Q3MHZ2, Q3UJK4, Q571F5, Q5M870, Q5NCX5, Q5PQR3, Q5R881, Q6PFW1, Q6PJ21, Q75G68, Q8BVR6, Q8C726, Q8CJC5, Q8R516, Q91YL3, Q91ZY8

Diamond homologs: A4IFG2, A9JRD8, B1WBS3, B2RXF5, D3YUB6, D4A0X3, O88939, O93567, O95365, P0DMR5, P97302, P97303, Q08BL9, Q0P4X6, Q24174, Q2LE78, Q2M2N2, Q52KB5, Q56A24, Q5PQR3, Q5TZE1, Q5XKL5, Q6GR09, Q6IQ16, Q6NYM1, Q6TFL4, Q717B2, Q717B4, Q7T330, Q811H0, Q8BRG6, Q8C726, Q8CFE5, Q8CII0, Q8K2J9, Q8NAP8, Q8NCP5, Q8R0A2, Q96Q07, Q9BYV9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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
DNA Damage Recognition in GG-NER	6	24.1×	7e-05
Formation of TC-NER Pre-Incision Complex	5	14.9×	3e-03
Neddylation	10	6.7×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein neddylation	5	38.2×	6e-05
proteasome-mediated ubiquitin-dependent protein catabolic process	13	7.4×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

5193 predictions. Top by Δscore:

Variant	Effect	Δscore
6:38174981:T:TA	donor_gain	1.0000
6:38256404:CTT:C	donor_loss	1.0000
6:38256405:TTAC:T	donor_loss	1.0000
6:38256406:TA:T	donor_loss	1.0000
6:38256407:A:AC	donor_gain	1.0000
6:38256407:A:C	donor_loss	1.0000
6:38256407:ACTTG:A	donor_gain	1.0000
6:38256408:C:CG	donor_gain	1.0000
6:38256408:CT:C	donor_gain	1.0000
6:38256408:CTT:C	donor_gain	1.0000
6:38256408:CTTG:C	donor_gain	1.0000
6:38256408:CTTGC:C	donor_gain	1.0000
6:38256411:G:A	donor_gain	1.0000
6:38256512:GTAAC:G	acceptor_gain	1.0000
6:38256513:TAAC:T	acceptor_gain	1.0000
6:38256514:AAC:A	acceptor_gain	1.0000
6:38256514:AACC:A	acceptor_loss	1.0000
6:38256515:AC:A	acceptor_gain	1.0000
6:38256516:CC:C	acceptor_gain	1.0000
6:38256517:C:CC	acceptor_gain	1.0000
6:38256517:C:G	acceptor_loss	1.0000
6:38256518:T:G	acceptor_loss	1.0000
6:38288266:TCTTA:T	donor_loss	1.0000
6:38288267:CTTAC:C	donor_loss	1.0000
6:38288268:TTACC:T	donor_loss	1.0000
6:38288269:TACC:T	donor_loss	1.0000
6:38288270:A:C	donor_loss	1.0000
6:38288271:C:A	donor_loss	1.0000
6:38288325:T:TA	donor_gain	1.0000
6:38288457:GGGAA:G	acceptor_gain	1.0000

AlphaMissense

4033 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:38175169:A:T	V552D	1.000
6:38175171:A:C	C551W	1.000
6:38175174:G:C	H550Q	1.000
6:38175174:G:T	H550Q	1.000
6:38175175:T:C	H550R	1.000
6:38175176:G:C	H550D	1.000
6:38175176:G:T	H550N	1.000
6:38175177:G:C	F549L	1.000
6:38175177:G:T	F549L	1.000
6:38175178:A:G	F549S	1.000
6:38175179:A:G	F549L	1.000
6:38192522:A:C	N546K	1.000
6:38192522:A:T	N546K	1.000
6:38192531:G:C	N543K	1.000
6:38192531:G:T	N543K	1.000
6:38192533:T:C	N543D	1.000
6:38192541:C:A	G540V	1.000
6:38192541:C:T	G540E	1.000
6:38192542:C:A	G540W	1.000
6:38192542:C:G	G540R	1.000
6:38192542:C:T	G540R	1.000
6:38192550:C:G	R537P	1.000
6:38192593:A:G	W523R	1.000
6:38192593:A:T	W523R	1.000
6:38256444:C:A	W509C	1.000
6:38256444:C:G	W509C	1.000
6:38256446:A:G	W509R	1.000
6:38256446:A:T	W509R	1.000
6:38256479:A:C	Y498D	1.000
6:38256485:A:C	Y496D	1.000

dbSNP variants (sampled 300 via entrez): RS1000004077 (6:38460246 T>G), RS1000013513 (6:38639877 G>A,T), RS1000014230 (6:38545481 T>A,C), RS1000014724 (6:38503720 C>T), RS1000017315 (6:38553249 T>A), RS1000021527 (6:38510209 C>T), RS1000022452 (6:38424808 C>T), RS1000032166 (6:38238071 G>A), RS1000045079 (6:38204045 A>C), RS1000048941 (6:38208102 G>A), RS1000050509 (6:38466869 T>C), RS1000058468 (6:38509924 C>T), RS1000060079 (6:38576200 C>T), RS1000068249 (6:38523516 G>A), RS1000071767 (6:38344717 T>C)

Disease associations

OMIM: gene MIM:611237 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000056_2	Restless legs syndrome	4.000000e-18
GCST000058_1	Restless legs syndrome	1.000000e-17
GCST001159_2	Restless legs syndrome	8.000000e-22
GCST003025_14	Attention function in attention deficit hyperactive disorder	4.000000e-06
GCST003264_113	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003264_909	Post bronchodilator FEV1/FVC ratio	1.000000e-06
GCST003265_304	Post bronchodilator FEV1/FVC ratio in COPD	4.000000e-07
GCST003265_307	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-07
GCST003265_308	Post bronchodilator FEV1/FVC ratio in COPD	2.000000e-07
GCST005042_9	Restless legs syndrome	4.000000e-202
GCST005150_23	Colorectal cancer	9.000000e-08
GCST006088_3	Familial squamous cell lung carcinoma	1.000000e-06
GCST007576_114	Chronotype	3.000000e-08
GCST011494_29	Daytime nap	5.000000e-11
GCST011995_21	Restless legs syndrome	2.000000e-103
GCST012037_2	Sleep start time	2.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007636	attention function measurement
EFO:0004713	FEV/FVC ratio
EFO:0006953	family history of lung cancer
EFO:0008328	chronotype measurement
EFO:0007828	daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	4
Aflatoxin B1	increases methylation, affects methylation, decreases expression	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Arsenic	decreases expression, increases abundance, affects methylation, affects cotreatment	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methyleugenol	decreases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression, affects cotreatment	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Lead	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methotrexate	decreases expression	1
Urethane	increases expression	1
Valproic Acid	decreases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1C4	Ubigene SH-SY5Y BTBD9 KO	Cancer cell line	Female
CVCL_E1SE	HAP1 BTBD9 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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