BBX

Summary

BBX (BBX high mobility group box domain containing, HGNC:14422) is a protein-coding gene on chromosome 3q13.12, encoding HMG box transcription factor BBX (Q8WY36). Transcription factor that is necessary for cell cycle progression from G1 to S phase.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within bone development. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 56987 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 149 total — 1 pathogenic
• MANE Select transcript: NM_001142568

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14422
Approved symbol	BBX
Name	BBX high mobility group box domain containing
Location	3q13.12
Locus type	gene with protein product
Status	Approved
Aliases	MDS001, HSPC339, HBP2
Ensembl gene	ENSG00000114439
Ensembl biotype	protein_coding
OMIM	621127
Entrez	56987

Gene structure

Transcript identifiers

Ensembl transcripts: 42 — 37 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000325805, ENST00000402163, ENST00000402543, ENST00000406780, ENST00000413213, ENST00000415149, ENST00000416476, ENST00000425868, ENST00000427402, ENST00000429270, ENST00000431630, ENST00000443253, ENST00000449213, ENST00000449271, ENST00000449335, ENST00000454540, ENST00000456419, ENST00000456817, ENST00000457496, ENST00000458347, ENST00000458458, ENST00000472032, ENST00000473542, ENST00000474137, ENST00000485939, ENST00000497629, ENST00000896798, ENST00000896799, ENST00000896800, ENST00000896801, ENST00000896802, ENST00000896803, ENST00000896804, ENST00000896805, ENST00000896806, ENST00000930766, ENST00000971821, ENST00000971822, ENST00000971823, ENST00000971824, ENST00000971825, ENST00000971826

RefSeq mRNA: 3 — MANE Select: NM_001142568 NM_001142568, NM_001276286, NM_020235

CCDS: CCDS2950, CCDS46881, CCDS63712

Canonical transcript exons

ENST00000325805 — 18 exons

Exon	Start	End
ENSE00001229038	107526327	107526398
ENSE00001229138	107645836	107645909
ENSE00001828598	107522962	107523107
ENSE00001918357	107805370	107811339
ENSE00002250380	107728765	107728960
ENSE00002257611	107732956	107733023
ENSE00002398989	107716607	107716849
ENSE00002697952	107710452	107710622
ENSE00002707948	107772628	107773636
ENSE00003464561	107747965	107748039
ENSE00003479990	107744630	107744710
ENSE00003499737	107774719	107774857
ENSE00003536804	107798523	107798720
ENSE00003542238	107789787	107789876
ENSE00003552674	107791240	107791299
ENSE00003618538	107801095	107801281
ENSE00003646424	107755598	107755678
ENSE00003651493	107778371	107778519

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0322 / max 447.7498, expressed in 1794 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37784	22.8214	1784
37786	1.5732	844
37787	1.1209	655
37789	0.9354	538
37790	0.6955	389
37785	0.3706	184
37788	0.2075	85
37792	0.1046	38
37791	0.1005	32
37795	0.0803	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.55	gold quality
cauda epididymis	UBERON:0004360	99.30	gold quality
caput epididymis	UBERON:0004358	99.20	gold quality
corpus callosum	UBERON:0002336	97.61	gold quality
mammary duct	UBERON:0001765	97.36	gold quality
adrenal tissue	UBERON:0018303	97.27	gold quality
inferior vagus X ganglion	UBERON:0005363	97.26	gold quality
seminal vesicle	UBERON:0000998	97.20	gold quality
calcaneal tendon	UBERON:0003701	97.13	gold quality
saphenous vein	UBERON:0007318	96.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.94	gold quality
cranial nerve II	UBERON:0000941	96.80	gold quality
trigeminal ganglion	UBERON:0001675	96.52	gold quality
superior vestibular nucleus	UBERON:0007227	96.40	gold quality
lower lobe of lung	UBERON:0008949	96.23	gold quality
superior surface of tongue	UBERON:0007371	96.19	gold quality
medial globus pallidus	UBERON:0002477	96.09	gold quality
sperm	CL:0000019	96.03	gold quality
globus pallidus	UBERON:0001875	95.95	gold quality
epithelium of mammary gland	UBERON:0003244	95.95	gold quality
superficial temporal artery	UBERON:0001614	95.90	gold quality
subthalamic nucleus	UBERON:0001906	95.87	gold quality
ventral tegmental area	UBERON:0002691	95.65	gold quality
medulla oblongata	UBERON:0001896	95.57	gold quality
buccal mucosa cell	CL:0002336	95.31	gold quality
nipple	UBERON:0002030	95.26	gold quality
urethra	UBERON:0000057	95.23	gold quality
renal medulla	UBERON:0000362	95.23	gold quality
male germ cell	CL:0000015	95.14	gold quality
pericardium	UBERON:0002407	94.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6075	no	398.18
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
BBX
KDM5D

Upstream regulators (CollecTRI, top): BBX, KDM5D

miRNA regulators (miRDB)

344 targeting BBX, 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-7110-3P	100.00	73.18	2486
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
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-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	bbx	ENSDARG00000012699
mus_musculus	Bbx	ENSMUSG00000022641
rattus_norvegicus	Bbx	ENSRNOG00000001971
drosophila_melanogaster	bbx	FBGN0024251

Paralogs (1): CIC (ENSG00000079432)

Protein

Protein identifiers

HMG box transcription factor BBX — Q8WY36 (reviewed: Q8WY36)

Alternative names: Bobby sox homolog, HMG box-containing protein 2

All UniProt accessions (18): C9IYG9, C9IYS9, C9J067, C9J0J4, C9J8D0, C9JA69, C9JC04, C9JD74, C9JE62, C9JIZ2, C9JNU3, C9JSH4, C9JYU6, C9JZA0, C9K0D1, Q8WY36, H7C1Q0, H7C1U1

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that is necessary for cell cycle progression from G1 to S phase.

Subcellular location. Nucleus.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WY36-1	1	yes
Q8WY36-2	2, BBXa
Q8WY36-3	3

RefSeq proteins (3): NP_001136040, NP_001263215, NP_064620 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR019102	TF_HMG_box_BBX_DUF2028	Domain
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR049523	BBX_HMG-box	Domain
IPR052412	CC-Dev_Transcription_Reg	Family

Pfam: PF00505, PF09667

UniProt features (40 total): compositionally biased region 14, region of interest 10, modified residue 6, cross-link 3, splice variant 3, chain 1, DNA-binding region 1, coiled-coil region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WY36-F1	50.79	0.08

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 (9): 243, 478, 485, 704, 822, 844, 385, 573, 696

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 315 (showing top): RRAGTTGT_UNKNOWN, WWTAAGGC_UNKNOWN, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, FISCHER_G1_S_CELL_CYCLE, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, AACWWCAANK_UNKNOWN, PATIL_LIVER_CANCER, GOBP_BONE_DEVELOPMENT, WANG_LMO4_TARGETS_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, IRF_Q6, AFP1_Q6, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), bone development (GO:0060348)

GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
skeletal system development	1
animal organ development	1
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1013 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BBX	BBOX1	O75936	895
BBX	TMLHE	Q9NVH6	651
BBX	A0A087WZY1	A0A087WZY1	623
BBX	PRH1	P02810	620
BBX	CLOCK	O15516	588
BBX	FOXK1	P85037	497
BBX	SIN3A	Q96ST3	479
BBX	C16orf87	Q6PH81	475
BBX	ZNF286A	Q9HBT8	473
BBX	SIN3B	O75182	472
BBX	CCDC54	Q8NEL0	471
BBX	FOXK2	Q01167	439
BBX	ZNF512B	Q96KM6	437
BBX	HDAC1	Q13547	434
BBX	ZGPAT	Q8N5A5	429

IntAct

93 interactions, top by confidence:

A	B	Type	Score
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
SCGN	SNAP23	psi-mi:“MI:0914”(association)	0.550
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
RSBN1	SETD1A	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
SIN3B	TNRC18	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
NIFK	RSL1D1	psi-mi:“MI:0914”(association)	0.530
ZSCAN31	DHX57	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
GREM2	ZZEF1	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
HSP90AB1	BBX	psi-mi:“MI:0915”(physical association)	0.400
FOXJ2	TCERG1	psi-mi:“MI:0914”(association)	0.350
PB2	HAX1	psi-mi:“MI:0914”(association)	0.350
PB1	IPO5	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	IPO5	psi-mi:“MI:0914”(association)	0.350
ORF36	PTCD1	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350

BioGRID (144): BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Reconstituted Complex), BBX (Proximity Label-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS), BBX (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GR68, A2CG63, E9Q9M8, F7AQ22, G3V8T1, O75152, O75376, P49140, P51826, P97432, Q13625, Q14596, Q17R98, Q1LY51, Q3TYA6, Q4KKX4, Q4LE39, Q4R6F6, Q501R9, Q505G8, Q5F3Z9, Q5HYC2, Q5RC94, Q5XJV7, Q60974, Q68FE8, Q69Z61, Q6A098, Q6NXK2, Q6NZF1, Q6PJT7, Q6ZNC4, Q86YI8, Q8BFU3, Q8BJ05, Q8CCH7, Q8CG79, Q8CHY6, Q8K2W6, Q8ND24

Diamond homologs: A0A0G2JTZ2, A4IIJ8, A4QNG3, A5A763, B0ZTE2, B1H349, B3DLD3, B3DM43, B7ZR65, F1LYL9, F1M8W4, O18896, O42569, O55170, O60248, O60381, O94993, O95416, P35710, P35711, P35712, P35713, P40645, P40647, P40649, P43267, P43680, P48430, P48431, P48432, P48434, P48436, P54231, P56693, P57073, P57074, P61259, P61753, P61754, Q04886

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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
Peptide chain elongation	11	19.4×	9e-10
Viral mRNA Translation	11	19.4×	9e-10
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	11	19.2×	9e-10
Selenocysteine synthesis	11	18.4×	9e-10
Eukaryotic Translation Termination	11	18.4×	9e-10
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	11	18.0×	9e-10
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	11	18.0×	9e-10
Formation of a pool of free 40S subunits	11	17.1×	1e-09

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal large subunit biogenesis	8	32.5×	3e-08
cytoplasmic translation	11	18.7×	8e-09
ribosomal small subunit biogenesis	5	10.4×	1e-02
translation	11	10.4×	2e-06
nucleosome assembly	6	7.7×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	125
Likely benign	3
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	Pathogenic

SpliceAI

5734 predictions. Top by Δscore:

Variant	Effect	Δscore
3:107523652:G:GG	donor_gain	1.0000
3:107526397:GG:G	donor_gain	1.0000
3:107526398:GG:G	donor_gain	1.0000
3:107526398:GGT:G	donor_loss	1.0000
3:107526399:G:A	donor_loss	1.0000
3:107526400:T:A	donor_loss	1.0000
3:107526401:AA:A	donor_loss	1.0000
3:107552876:G:GT	donor_gain	1.0000
3:107645823:G:A	acceptor_gain	1.0000
3:107646008:G:GT	donor_gain	1.0000
3:107655128:A:T	donor_gain	1.0000
3:107710447:TACA:T	acceptor_loss	1.0000
3:107710450:A:AG	acceptor_gain	1.0000
3:107710450:A:AT	acceptor_loss	1.0000
3:107710451:G:GA	acceptor_gain	1.0000
3:107710451:GGT:G	acceptor_gain	1.0000
3:107710451:GGTCA:G	acceptor_gain	1.0000
3:107710618:ATAAG:A	donor_gain	1.0000
3:107710619:TAAG:T	donor_gain	1.0000
3:107710620:AAG:A	donor_gain	1.0000
3:107710621:AG:A	donor_gain	1.0000
3:107710621:AGGTA:A	donor_loss	1.0000
3:107710622:GG:G	donor_gain	1.0000
3:107710623:G:GG	donor_gain	1.0000
3:107710623:GTAA:G	donor_loss	1.0000
3:107728763:A:AG	acceptor_gain	1.0000
3:107728764:G:GA	acceptor_gain	1.0000
3:107728764:GT:G	acceptor_gain	1.0000
3:107728764:GTATA:G	acceptor_gain	1.0000
3:107728956:GGCTG:G	donor_gain	1.0000

AlphaMissense

6247 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:107716689:G:C	R82T	1.000
3:107716690:A:C	R82S	1.000
3:107716690:A:T	R82S	1.000
3:107716691:C:T	P83S	1.000
3:107716692:C:A	P83Q	1.000
3:107716692:C:G	P83R	1.000
3:107716699:T:A	N85K	1.000
3:107716699:T:G	N85K	1.000
3:107716703:T:A	F87I	1.000
3:107716703:T:C	F87L	1.000
3:107716703:T:G	F87V	1.000
3:107716704:T:C	F87S	1.000
3:107716704:T:G	F87C	1.000
3:107716705:T:A	F87L	1.000
3:107716705:T:G	F87L	1.000
3:107716707:T:C	L88P	1.000
3:107716710:T:C	L89S	1.000
3:107716712:T:C	F90L	1.000
3:107716713:T:C	F90S	1.000
3:107716713:T:G	F90C	1.000
3:107716714:T:A	F90L	1.000
3:107716714:T:G	F90L	1.000
3:107716715:T:C	C91R	1.000
3:107716716:G:A	C91Y	1.000
3:107716716:G:T	C91F	1.000
3:107716717:C:G	C91W	1.000
3:107716718:A:G	K92E	1.000
3:107716719:A:T	K92I	1.000
3:107716720:A:C	K92N	1.000
3:107716720:A:T	K92N	1.000

dbSNP variants (sampled 300 via entrez): RS1000008827 (3:107758837 C>T), RS1000012693 (3:107751000 G>A), RS1000026185 (3:107758367 T>C), RS1000027067 (3:107779997 C>T), RS1000030038 (3:107811662 C>T), RS1000037798 (3:107733956 T>C,G), RS1000038213 (3:107522789 C>T), RS1000041126 (3:107565897 G>A), RS1000043660 (3:107619053 A>C,G), RS1000044403 (3:107664843 G>A,T), RS1000052545 (3:107574004 C>T), RS1000063456 (3:107619109 C>T), RS1000080259 (3:107529294 C>T), RS1000081648 (3:107593793 G>A), RS1000143626 (3:107589059 A>G)

Disease associations

OMIM: gene MIM:621127 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST000349_1	Smoking behavior	2.000000e-07
GCST004505_15	Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)	3.000000e-10
GCST004746_27	Small cell lung carcinoma	9.000000e-06
GCST005232_73	Neuroticism	2.000000e-08
GCST006661_164	Male-pattern baldness	5.000000e-11
GCST006940_95	Neurociticism	4.000000e-10
GCST006941_64	Irritable mood	4.000000e-08
GCST006944_35	Experiencing mood swings	5.000000e-09
GCST006950_56	Feeling worry	2.000000e-08
GCST008159_20	Waist-to-hip ratio adjusted for BMI	6.000000e-06
GCST008512_7	Multisite chronic pain	1.000000e-09
GCST008595_37	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	3.000000e-08
GCST008839_456	Height	2.000000e-09
GCST011680_1	Depression in multiple sclerosis	4.000000e-07
GCST012332_59	Multisite chronic pain	5.000000e-10
GCST90002393_243	Monocyte count	2.000000e-12
GCST90002395_378	Mean platelet volume	3.000000e-12
GCST90002398_128	Neutrophil count	3.000000e-15
GCST90002400_366	Plateletcrit	2.000000e-17
GCST90002402_316	Platelet count	2.000000e-19
GCST90002407_404	White blood cell count	4.000000e-18
GCST90020029_1345	Waist circumference adjusted for body mass index	4.000000e-08

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007660	neuroticism measurement
EFO:0009594	irritability measurement
EFO:0008475	mood instability measurement
EFO:0009589	worry measurement
EFO:0010100	multisite chronic pain
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0005091	monocyte count
EFO:0004833	neutrophil count
EFO:0007985	platelet crit
EFO:0004309	platelet count
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	5
Benzo(a)pyrene	affects methylation, decreases expression	4
trichostatin A	affects cotreatment, increases expression	3
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
geraniol	increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Zoledronic Acid	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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