KBTBD6

Summary

KBTBD6 (kelch repeat and BTB domain containing 6, HGNC:25340) is a protein-coding gene on chromosome 13q14.11, encoding Kelch repeat and BTB domain-containing protein 6 (Q86V97). As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its ‘Lys-48’ ubiquitination and proteasomal degradation.

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process; protein K48-linked ubiquitination; and regulation of Rac protein signal transduction. Located in cytoplasm and nucleus. Part of Cul3-RING ubiquitin ligase complex.

Source: NCBI Gene 89890 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_152903

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25340
Approved symbol	KBTBD6
Name	kelch repeat and BTB domain containing 6
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp547E1912
Ensembl gene	ENSG00000165572
Ensembl biotype	protein_coding
OMIM	617738
Entrez	89890

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000379485

RefSeq mRNA: 1 — MANE Select: NM_152903 NM_152903

CCDS: CCDS9376

Canonical transcript exons

ENST00000379485 — 1 exons

Exon	Start	End
ENSE00001481262	41127569	41132802

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 93.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3655 / max 106.2453, expressed in 1609 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136955	7.3655	1609

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	93.40	gold quality
endothelial cell	CL:0000115	93.35	gold quality
lateral nuclear group of thalamus	UBERON:0002736	90.34	gold quality
substantia nigra pars compacta	UBERON:0001965	89.52	gold quality
ganglionic eminence	UBERON:0004023	88.22	gold quality
substantia nigra pars reticulata	UBERON:0001966	87.97	gold quality
superior vestibular nucleus	UBERON:0007227	86.62	gold quality
ventricular zone	UBERON:0003053	86.53	gold quality
entorhinal cortex	UBERON:0002728	86.41	gold quality
Brodmann (1909) area 46	UBERON:0006483	86.14	gold quality
oviduct epithelium	UBERON:0004804	85.68	gold quality
superior frontal gyrus	UBERON:0002661	85.44	gold quality
postcentral gyrus	UBERON:0002581	85.35	gold quality
pons	UBERON:0000988	84.73	gold quality
lateral globus pallidus	UBERON:0002476	84.73	gold quality
parietal lobe	UBERON:0001872	84.36	gold quality
cardiac muscle of right atrium	UBERON:0003379	84.06	silver quality
prefrontal cortex	UBERON:0000451	83.80	gold quality
hypothalamus	UBERON:0001898	83.66	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.64	gold quality
dorsal plus ventral thalamus	UBERON:0001897	83.47	gold quality
medulla oblongata	UBERON:0001896	83.01	gold quality
pigmented layer of retina	UBERON:0001782	82.92	gold quality
cerebral cortex	UBERON:0000956	82.45	gold quality
temporal lobe	UBERON:0001871	82.22	gold quality
Ammon’s horn	UBERON:0001954	82.21	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.08	gold quality
frontal cortex	UBERON:0001870	82.01	gold quality
ventral tegmental area	UBERON:0002691	81.97	gold quality
neocortex	UBERON:0001950	81.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

107 targeting KBTBD6, 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-126-5P	100.00	72.71	3180
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6835-3P	99.93	70.49	2904

Literature-anchored findings (GeneRIF, showing 1)

• KBTBD6 and KBTBD7 specifically bind to GABARAP proteins.KBTBD6 and KBTBD7 form a heterodimeric CRL3 complex. (PMID:25684205)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Kbtbd6	ENSMUSG00000075502

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch repeat and BTB domain-containing protein 6 — Q86V97 (reviewed: Q86V97)

All UniProt accessions (1): Q86V97

UniProt curated annotations — full annotation on UniProt →

Function. As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its ‘Lys-48’ ubiquitination and proteasomal degradation. By controlling this ubiquitination, regulates RAC1 signal transduction and downstream biological processes including the organization of the cytoskeleton, cell migration and cell proliferation. Ubiquitination of TIAM1 requires the membrane-associated protein GABARAP which may restrict locally the activity of the complex.

Subunit / interactions. Core component of a BCR3 (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, also named Cul3-RING ubiquitin ligase complex CUL3(KBTBD6/7), composed of CUL3, RBX1, KBTBD6 and KBTBD7. Interacts with GABARAP; the interaction is direct and is required for the ubiquitination of TIAM1. Interacts with GABARAPL1, GABARAPL2 and MAP1LC3B; the interaction is direct.

Subcellular location. Cytoplasm. Nucleus.

Domain organisation. The ATG8 interaction motif (AIM) mediates interaction with proteins of the ATG8 family including GABARAP. The BTB domain is required for interaction with CUL3. The Kelch repeats mediate interaction with TIAM1, a CUL3(KBTBD6/7) E3 ubiquitin ligase substrate.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_690867* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR006652	Kelch_1	Repeat
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR017096	BTB-kelch_protein	Family
IPR046790	KBTB_W-LIR	Conserved_site
IPR047931	KBTBD6_7_BACK	Domain
IPR047933	KBTBD6_7_BTB_POZ	Domain

Pfam: PF00651, PF01344, PF07707, PF20165

UniProt features (16 total): repeat 6, mutagenesis site 3, region of interest 2, chain 1, domain 1, short sequence motif 1, compositionally biased region 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4XC2	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86V97-F1	81.62	0.56

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (3):

Position	Phenotype
99	loss of interaction with cul3. loss of function in tiam1 ubiquitination and degradation.
668–671	decreased interaction with gabarap and gabarapl2. loss of function in tiam1 ubiquitination and degradation. no effect on
668	decreased interaction with gabarap and gabarapl2. loss of function in tiam1 ubiquitination and degradation. no effect on

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 116 (showing top): E2F_Q4, E2F4DP1_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, E2F1DP1_01, E2F1DP2_01, GOBP_REGULATION_OF_RAC_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GARY_CD5_TARGETS_DN, TURASHVILI_BREAST_DUCTAL_CARCINOMA_VS_DUCTAL_NORMAL_DN, FUJII_YBX1_TARGETS_DN

GO Biological Process (6): response to unfolded protein (GO:0006986), negative regulation of signal transduction (GO:0009968), regulation of Rac protein signal transduction (GO:0035020), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), protein ubiquitination (GO:0016567)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), Cul3-RING ubiquitin ligase complex (GO:0031463)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
response to topologically incorrect protein	1
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
Rac protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein polyubiquitination	1
protein modification by small protein conjugation	1
enzyme-substrate adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

736 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KBTBD6	CUL3	Q13618	759
KBTBD6	GABARAP	O95166	617
KBTBD6	F5GZY7	F5GZY7	576
KBTBD6	TIAM1	Q13009	437
KBTBD6	A0A3B3IRQ3	A0A3B3IRQ3	420
KBTBD6	CALY	Q9NYX4	392
KBTBD6	SAMD5	Q5TGI4	375
KBTBD6	POTEC	B2RU33	362
KBTBD6	SLC35G6	P0C7Q6	354
KBTBD6	UBOX5	O94941	350
KBTBD6	KRTAP4-8	Q9BYQ9	349
KBTBD6	CD300C	Q08708	348
KBTBD6	PROSER1	Q86XN7	348
KBTBD6	ZNF709	Q8N972	348
KBTBD6	LYSMD1	Q96S90	336

IntAct

178 interactions, top by confidence:

A	B	Type	Score
KBTBD7	CUL3	psi-mi:“MI:0914”(association)	0.920
INO80E	YY1	psi-mi:“MI:0914”(association)	0.900
LLGL2	PRKCI	psi-mi:“MI:0914”(association)	0.890
KBTBD6	KBTBD7	psi-mi:“MI:0915”(physical association)	0.880
KBTBD7	KBTBD6	psi-mi:“MI:0915”(physical association)	0.880
KBTBD6	CUL3	psi-mi:“MI:0914”(association)	0.860
CUL3	KBTBD6	psi-mi:“MI:0915”(physical association)	0.860
SURF2	RPL5	psi-mi:“MI:0914”(association)	0.800
OSBPL9	VAPB	psi-mi:“MI:0914”(association)	0.790
KBTBD6	GABARAP	psi-mi:“MI:0407”(direct interaction)	0.760
KBTBD6	GABARAPL1	psi-mi:“MI:0407”(direct interaction)	0.760
GABARAPL1	KBTBD6	psi-mi:“MI:0915”(physical association)	0.760
KBTBD6	GABARAP	psi-mi:“MI:0915”(physical association)	0.760
KBTBD6	GABARAP	psi-mi:“MI:0914”(association)	0.760
KBTBD6	GABARAPL1	psi-mi:“MI:0403”(colocalization)	0.760
KBTBD6	MAP1LC3B	psi-mi:“MI:0407”(direct interaction)	0.750
KBTBD6	MAP1LC3B	psi-mi:“MI:0915”(physical association)	0.750
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730
KBTBD6	GABARAPL2	psi-mi:“MI:0407”(direct interaction)	0.720

BioGRID (149): KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD6 (Affinity Capture-MS), KBTBD7 (Affinity Capture-Western), CUL3 (Affinity Capture-Western)

ESM2 similar proteins: A0A1B8YAB1, B1H285, B3DIV9, E9QIN8, E9QJ30, F1QEG2, O88879, Q08CL3, Q08CY1, Q0D2A9, Q13939, Q28068, Q3UQV5, Q3ZCT8, Q503R4, Q5F3N5, Q5R4S6, Q5R663, Q5RG82, Q5XHZ6, Q5XI58, Q5ZI33, Q69ZK5, Q6DFF7, Q6DFU2, Q6Q7X9, Q6V595, Q7ZVQ8, Q86V97, Q8BHI4, Q8BUL5, Q8BWA5, Q8CA72, Q8CDE2, Q8CE33, Q8IXQ5, Q8NAB2, Q8NFY9, Q8R179, Q8WVZ9

Diamond homologs: A0JMG1, A1YEX3, B0WWP2, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, B7U179, D3Z8N4, D4A2K4, E0CZ16, E7F6F9, F1LZF0, F1MBP6, O14682, O22286, O35709, O43791, O81432, O95198, P0DMR5, P0DMR6, P24278, P28575, P34568, P58544, P58545, Q08DK3, Q08DS0, Q0D2A9, Q0IHH9, Q0VCW1, Q16RL8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 168 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	15.4×	1e-03
Neddylation	11	4.7×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein neddylation	6	28.1×	3e-05
autophagosome maturation	6	14.0×	1e-03
mitophagy	6	12.7×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

131 predictions. Top by Δscore:

Variant	Effect	Δscore
13:41128459:T:TC	acceptor_gain	0.7600
13:41131594:CAGG:C	donor_gain	0.7300
13:41130660:C:CT	acceptor_gain	0.7100
13:41131154:T:TA	donor_gain	0.7100
13:41130541:T:TA	donor_gain	0.6900
13:41132611:C:G	acceptor_gain	0.6700
13:41127822:T:TG	acceptor_gain	0.6600
13:41130666:C:CT	acceptor_gain	0.6600
13:41131647:T:TA	donor_gain	0.6500
13:41131573:TGG:T	donor_gain	0.6100
13:41132407:C:CT	acceptor_gain	0.5900
13:41129178:A:AC	donor_gain	0.5700
13:41131647:TCTTC:T	donor_gain	0.5600
13:41128494:T:C	acceptor_gain	0.5300
13:41130667:A:T	acceptor_gain	0.5200
13:41130648:A:T	acceptor_gain	0.5100
13:41131166:A:C	donor_gain	0.5100
13:41132407:C:T	acceptor_gain	0.5100
13:41128494:T:TC	acceptor_gain	0.5000
13:41128461:A:C	acceptor_gain	0.4900
13:41130761:G:C	donor_gain	0.4800
13:41132612:C:CT	acceptor_gain	0.4800
13:41132613:G:T	acceptor_gain	0.4800
13:41128454:T:C	acceptor_gain	0.4700
13:41128469:A:T	acceptor_gain	0.4700
13:41132610:TCC:T	acceptor_gain	0.4700
13:41129249:CAG:C	acceptor_gain	0.4600
13:41130759:CAG:C	donor_gain	0.4600
13:41131493:A:T	donor_gain	0.4600
13:41132701:CCCT:C	donor_gain	0.4600

AlphaMissense

4434 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:41132213:A:G	F100S	0.997
13:41130729:A:G	W595R	0.996
13:41130729:A:T	W595R	0.996
13:41131002:A:G	W504R	0.996
13:41131002:A:T	W504R	0.996
13:41130882:A:G	W544R	0.995
13:41130882:A:T	W544R	0.995
13:41131122:A:G	W464R	0.995
13:41131122:A:T	W464R	0.995
13:41131776:A:G	W246R	0.995
13:41131776:A:T	W246R	0.995
13:41132243:G:T	A90D	0.995
13:41131000:C:A	W504C	0.994
13:41131000:C:G	W504C	0.994
13:41131200:A:C	Y438D	0.994
13:41131120:C:A	W464C	0.993
13:41131120:C:G	W464C	0.993
13:41132212:G:C	F100L	0.993
13:41132212:G:T	F100L	0.993
13:41132214:A:G	F100L	0.993
13:41132312:A:T	I67N	0.993
13:41130803:A:G	L570P	0.991
13:41131143:A:C	Y457D	0.991
13:41131269:A:G	W415R	0.991
13:41131269:A:T	W415R	0.991
13:41132213:A:C	F100C	0.991
13:41132244:C:G	A90P	0.991
13:41132225:A:G	F96S	0.990
13:41132235:A:G	C93R	0.990
13:41132255:C:G	R86P	0.990

dbSNP variants (sampled 300 via entrez): RS1000478238 (13:41132525 A>G), RS1001045150 (13:41129122 G>A), RS1001494249 (13:41129449 C>T), RS1001729070 (13:41132896 A>C,G), RS1002281097 (13:41133311 C>A), RS1002706701 (13:41127073 G>A), RS1002723415 (13:41134473 A>G), RS1002819062 (13:41134767 T>C), RS1003277068 (13:41134637 C>T), RS1005166040 (13:41132668 C>T), RS1005606116 (13:41127911 C>T), RS1005776946 (13:41128519 A>G), RS1006100443 (13:41127484 G>A), RS1006363019 (13:41134700 T>A,C), RS1006624455 (13:41129849 G>A,C)

Disease associations

OMIM: gene MIM:617738 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010241_205	Apolipoprotein A1 levels	1.000000e-09
GCST010242_327	HDL cholesterol levels	2.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Formaldehyde	decreases expression, increases expression	3
Valproic Acid	affects expression, decreases expression	3
Cadmium Chloride	increases expression, decreases expression, increases abundance	3
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
hydroquinone	decreases expression	1
vanadyl sulfate	decreases expression	1
pinosylvin	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Leflunomide	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases reaction, increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Zinc	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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