KLHL8

Summary

KLHL8 (kelch like family member 8, HGNC:18644) is a protein-coding gene on chromosome 4q22.1, encoding Kelch-like protein 8 (Q9P2G9). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in nucleoplasm. Part of Cul3-RING ubiquitin ligase complex.

Source: NCBI Gene 57563 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_020803

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18644
Approved symbol	KLHL8
Name	kelch like family member 8
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1378
Ensembl gene	ENSG00000145332
Ensembl biotype	protein_coding
OMIM	611967
Entrez	57563

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000273963, ENST00000425278, ENST00000498875, ENST00000504029, ENST00000505388, ENST00000506274, ENST00000506985, ENST00000512111, ENST00000868325, ENST00000868326, ENST00000868327, ENST00000868328, ENST00000868329, ENST00000868330, ENST00000868331, ENST00000868332, ENST00000961529, ENST00000961530, ENST00000961531, ENST00000961532, ENST00000961533, ENST00000961534

RefSeq mRNA: 4 — MANE Select: NM_020803 NM_001292003, NM_001292006, NM_001292007, NM_020803

CCDS: CCDS3617, CCDS75163, CCDS77937

Canonical transcript exons

ENST00000273963 — 10 exons

Exon	Start	End
ENSE00000970002	87183203	87183389
ENSE00001006044	87160103	87163642
ENSE00001196665	87185251	87185799
ENSE00001353768	87220418	87220618
ENSE00003513517	87170447	87170615
ENSE00003521075	87163878	87164079
ENSE00003599459	87195324	87195690
ENSE00003647167	87170079	87170238
ENSE00003663431	87178477	87178620
ENSE00003665739	87176757	87176868

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3693 / max 108.5483, expressed in 1689 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53002	5.9105	1635
53003	1.3852	738
53006	0.0547	16
53005	0.0114	5
53004	0.0076	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.70	gold quality
kidney epithelium	UBERON:0004819	97.91	gold quality
secondary oocyte	CL:0000655	95.50	gold quality
cauda epididymis	UBERON:0004360	95.18	gold quality
deltoid	UBERON:0001476	94.35	gold quality
caput epididymis	UBERON:0004358	93.40	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.05	gold quality
tibialis anterior	UBERON:0001385	92.94	gold quality
biceps brachii	UBERON:0001507	92.31	gold quality
trabecular bone tissue	UBERON:0002483	92.08	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.93	gold quality
cortical plate	UBERON:0005343	91.44	gold quality
ileal mucosa	UBERON:0000331	91.41	gold quality
vastus lateralis	UBERON:0001379	91.01	gold quality
quadriceps femoris	UBERON:0001377	90.99	gold quality
skeletal muscle tissue	UBERON:0001134	90.93	gold quality
bronchial epithelial cell	CL:0002328	90.30	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.11	gold quality
epithelial cell of pancreas	CL:0000083	90.10	gold quality
bronchus	UBERON:0002185	89.93	gold quality
visceral pleura	UBERON:0002401	89.90	gold quality
muscle tissue	UBERON:0002385	89.54	gold quality
jejunal mucosa	UBERON:0000399	89.51	gold quality
lower lobe of lung	UBERON:0008949	89.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.12	gold quality
palpebral conjunctiva	UBERON:0001812	89.06	gold quality
colonic mucosa	UBERON:0000317	88.74	gold quality
jejunum	UBERON:0002115	88.71	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.67	gold quality
left ventricle myocardium	UBERON:0006566	88.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.19
E-HCAD-38	no	256.92

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

148 targeting KLHL8, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-335-3P	99.93	73.36	4958

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	klhl8	ENSDARG00000101270
mus_musculus	Klhl8	ENSMUSG00000029312
rattus_norvegicus	Klhl8	ENSRNOG00000002214
caenorhabditis_elegans		WBGENE00020952

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), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), 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-like protein 8 — Q9P2G9 (reviewed: Q9P2G9)

All UniProt accessions (3): D6RGH5, Q9P2G9, Q68DU9

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.

Subunit / interactions. Component of the BCR(KLHL8) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL8 and RBX1. Interacts with RAPSN.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P2G9-1	1	yes
Q9P2G9-2	2

RefSeq proteins (4): NP_001278932, NP_001278935, NP_001278936, NP_065854* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR006652	Kelch_1	Repeat
IPR011043	Gal_Oxase/kelch_b-propeller	Homologous_superfamily
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR017096	BTB-kelch_protein	Family

Pfam: PF00651, PF01344, PF07707, PF24681

UniProt features (17 total): repeat 6, compositionally biased region 3, domain 2, initiator methionine 1, chain 1, region of interest 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2G9-F1	90.73	0.84

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 (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 92 (showing top): HORIUCHI_WTAP_TARGETS_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, chr4q22, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, LEE_RECENT_THYMIC_EMIGRANT, SANSOM_APC_TARGETS, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_CUL3_RING_UBIQUITIN_LIGASE_COMPLEX, GEORGES_TARGETS_OF_MIR192_AND_MIR215

GO Biological Process (3): ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

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

GO Cellular Component (3): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Cul3-RING ubiquitin ligase complex (GO:0031463)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
protein modification by small protein conjugation	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
enzyme-substrate adaptor activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

630 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLHL8	FHAD1	B1AJZ9	668
KLHL8	CUL3	Q13618	616
KLHL8	ATP11A	P98196	510
KLHL8	PI15	O43692	506
KLHL8	NUP54	Q7Z3B4	505
KLHL8	UBB	P02248	496
KLHL8	SDAD1	Q9NVU7	485
KLHL8	BNIPL	Q7Z465	480
KLHL8	PSORS1C1	Q9UIG5	472
KLHL8	GLRA1	P23415	452
KLHL8	GPR160	Q9UJ42	450
KLHL8	TRAM1L1	Q8N609	446
KLHL8	KCNIP4	Q6PIL6	437
KLHL8	PRKCH	P24723	431
KLHL8	UGDH	O60701	420

IntAct

113 interactions, top by confidence:

A	B	Type	Score
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
PDLIM7	BAG3	psi-mi:“MI:0914”(association)	0.800
KLHL8	CUL3	psi-mi:“MI:0915”(physical association)	0.770
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
DCX	ZBTB5	psi-mi:“MI:0914”(association)	0.670
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
PDCL3	PEX7	psi-mi:“MI:0914”(association)	0.640
CUL3	ENC1	psi-mi:“MI:0914”(association)	0.640
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
CCT5	TXNDC9	psi-mi:“MI:0914”(association)	0.640
SNRNP70	GEMIN2	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
SERPINF1	HSPA5	psi-mi:“MI:0914”(association)	0.620
CUL3	RHOBTB1	psi-mi:“MI:0914”(association)	0.530
COPS5	KLHL18	psi-mi:“MI:0914”(association)	0.530
UBA5	GAPDHS	psi-mi:“MI:0914”(association)	0.530
RACGAP1	CHEK1	psi-mi:“MI:0914”(association)	0.530
CUL3	ZSWIM8	psi-mi:“MI:0914”(association)	0.530

BioGRID (122): KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), CUL3 (Affinity Capture-Western), RAPSN (Affinity Capture-Western), RAPSN (Biochemical Activity), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS), KLHL8 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430

Diamond homologs: A2AUC9, B0WWP2, B1WBS3, B2RXF5, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, D3Z8N4, E0CZ16, E7F6F9, E9Q4F2, E9QIN8, E9QJ30, F1LZ52, F1LZF0, F1MBP6, F1QEG2, O60662, O94889, O95198, P59280, Q01295, Q08DK3, Q13105, Q16RL8, Q1LYM6, Q24206, Q2M0J9, Q2TBA0, Q54D84, Q5EB39, Q5R7B8

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
KLHL8	“down-regulates quantity by destabilization”	RAPSN	binding
KLHL8	“up-regulates activity”	“Cullin 3-RBX1-Skp1”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 128 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
Metabolism of non-coding RNA	5	40.7×	4e-06
RHOBTB1 GTPase cycle	6	36.6×	6e-07
Formation of tubulin folding intermediates by CCT/TriC	6	32.5×	1e-06
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	6	31.4×	1e-06
DNA Damage Recognition in GG-NER	8	29.3×	6e-08
Formation of TC-NER Pre-Incision Complex	10	27.1×	1e-09
Chaperonin-mediated protein folding	7	27.0×	4e-07
Association of TriC/CCT with target proteins during biosynthesis	7	26.3×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
regulation of protein neddylation	7	59.0×	3e-09
spliceosomal snRNP assembly	10	52.4×	1e-12
protein neddylation	8	50.6×	6e-10
positive regulation of telomere maintenance via telomerase	5	33.0×	3e-05
U2-type prespliceosome assembly	5	28.1×	6e-05
binding of sperm to zona pellucida	5	19.0×	4e-04
mRNA splicing, via spliceosome	10	8.2×	3e-05
protein folding	7	6.5×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2179 predictions. Top by Δscore:

Variant	Effect	Δscore
4:87163873:ATTAC:A	donor_loss	1.0000
4:87163874:TTA:T	donor_loss	1.0000
4:87163875:TACCT:T	donor_loss	1.0000
4:87163876:A:T	donor_loss	1.0000
4:87163877:C:G	donor_loss	1.0000
4:87164078:ACC:A	acceptor_loss	1.0000
4:87164079:CC:C	acceptor_loss	1.0000
4:87164080:CT:C	acceptor_loss	1.0000
4:87164081:T:A	acceptor_loss	1.0000
4:87170073:ACTC:A	donor_loss	1.0000
4:87170075:TCACC:T	donor_loss	1.0000
4:87170077:A:AT	donor_loss	1.0000
4:87170078:C:A	donor_loss	1.0000
4:87170078:CCAA:C	donor_gain	1.0000
4:87170234:TGGTT:T	acceptor_gain	1.0000
4:87170237:TT:T	acceptor_gain	1.0000
4:87170239:C:CC	acceptor_gain	1.0000
4:87170445:A:AC	donor_gain	1.0000
4:87170446:C:CC	donor_gain	1.0000
4:87170446:CT:C	donor_gain	1.0000
4:87170446:CTA:C	donor_gain	1.0000
4:87170446:CTACT:C	donor_gain	1.0000
4:87170611:CTCGC:C	acceptor_gain	1.0000
4:87170612:TCGC:T	acceptor_gain	1.0000
4:87170613:CGC:C	acceptor_gain	1.0000
4:87170613:CGCC:C	acceptor_gain	1.0000
4:87170614:GC:G	acceptor_gain	1.0000
4:87170615:CC:C	acceptor_gain	1.0000
4:87170615:CCT:C	acceptor_loss	1.0000
4:87170616:C:CC	acceptor_gain	1.0000

AlphaMissense

4105 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:87163609:T:A	R591S	1.000
4:87163609:T:G	R591S	1.000
4:87163639:C:A	W581C	1.000
4:87163639:C:G	W581C	1.000
4:87163641:A:G	W581R	1.000
4:87163641:A:T	W581R	1.000
4:87163935:C:A	G561V	1.000
4:87163935:C:T	G561D	1.000
4:87163938:C:T	G560D	1.000
4:87163941:A:T	V559D	1.000
4:87163985:T:A	R544S	1.000
4:87163985:T:G	R544S	1.000
4:87163986:C:G	R544T	1.000
4:87164015:C:A	W534C	1.000
4:87164015:C:G	W534C	1.000
4:87164017:A:G	W534R	1.000
4:87164017:A:T	W534R	1.000
4:87164072:A:C	F515L	1.000
4:87164072:A:T	F515L	1.000
4:87164074:A:G	F515L	1.000
4:87164079:C:T	G513D	1.000
4:87170125:T:A	R497S	1.000
4:87170125:T:G	R497S	1.000
4:87170126:C:G	R497T	1.000
4:87170155:C:A	W487C	1.000
4:87170155:C:G	W487C	1.000
4:87170157:A:G	W487R	1.000
4:87170157:A:T	W487R	1.000
4:87170216:C:A	G467V	1.000
4:87170216:C:T	G467D	1.000

dbSNP variants (sampled 300 via entrez): RS1000006227 (4:87169310 T>A), RS10000324 (4:87236746 A>C,G,T), RS10000784 (4:87166331 A>G), RS1000080387 (4:87184698 T>A), RS1000101035 (4:87218305 T>G), RS1000135216 (4:87230882 T>C), RS1000147206 (4:87213257 C>G,T), RS1000156363 (4:87224020 C>T), RS1000159310 (4:87218139 G>C), RS1000171077 (4:87173464 T>A,C,G), RS10001721 (4:87225008 C>T), RS1000247368 (4:87166631 T>C), RS1000259767 (4:87187467 C>G), RS1000316241 (4:87218434 G>T), RS1000394392 (4:87205383 G>T)

Disease associations

OMIM: gene MIM:611967 | disease phenotypes: MIM:604772

GenCC curated gene-disease

Mondo (1): catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990)

Orphanet (1): Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286)

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000758_28	Triglycerides	9.000000e-12
GCST001958_16	Bulimia nervosa	4.000000e-06
GCST002216_31	Triglycerides	1.000000e-18
GCST002897_28	Triglycerides	2.000000e-10
GCST003476_4	Eyebrow thickness	2.000000e-06
GCST004232_28	HDL cholesterol levels	6.000000e-06
GCST004234_16	HDL cholesterol levels	5.000000e-08
GCST004237_34	Triglyceride levels	3.000000e-20
GCST004238_2	Triglyceride levels	2.000000e-08
GCST005790_92	Rosacea symptom severity	8.000000e-06
GCST005998_1	Alanine transaminase levels	1.000000e-16
GCST005999_9	Aspartate aminotransferase levels	1.000000e-16
GCST006003_10	Triglyceride levels	9.000000e-15
GCST006614_51	Total cholesterol levels	2.000000e-14
GCST011345_2	Triglyceride levels	4.000000e-14
GCST011351_5	Aspartate aminotransferase levels	4.000000e-15
GCST011352_23	Alanine aminotransferase levels	3.000000e-17
GCST90011898_126	Alanine aminotransferase levels	5.000000e-69
GCST90011899_168	Aspartate aminotransferase levels	2.000000e-57

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0009180	rosacea severity measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0004574	total cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression, decreases expression	2
pirinixic acid	affects binding, increases activity, increases expression	1
trichostatin A	increases expression	1
sodium arsenite	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	decreases expression	1
Arsenic	increases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Catechin	affects cotreatment, increases expression	1
Hydrogen Peroxide	increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06658899	PHASE2	RECRUITING	A Phase 2 Study of CRD-4730 in CPVT
NCT07263139	PHASE2	RECRUITING	Safety, Tolerability, and Exploratory Efficacy of AGP100 in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
NCT07148089	PHASE1	RECRUITING	A Study of SGT-501 Gene Therapy in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
NCT01117454	Not specified	COMPLETED	Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02927223	Not specified	COMPLETED	Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
NCT04124237	Not specified	COMPLETED	Long Term Monitoring for Risk of Sudden Death
NCT04189822	Not specified	ENROLLING_BY_INVITATION	Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank
NCT04650009	Not specified	COMPLETED	Physical Activity in Children With Inherited Cardiac Diseases
NCT04712136	Not specified	COMPLETED	Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations
NCT05521451	Not specified	RECRUITING	Clinical Cohort Study - TRUST
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06546137	Not specified	RECRUITING	National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil’s Unified Health System Through a Multicenter Registry