MKLN1

Summary

MKLN1 (muskelin 1, HGNC:7109) is a protein-coding gene on chromosome 7q32.3, encoding Muskelin (Q9UL63). Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1.

Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).

Source: NCBI Gene 4289 — RefSeq curated summary.

At a glance

• GWAS associations: 80
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_013255

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7109
Approved symbol	MKLN1
Name	muskelin 1
Location	7q32.3
Locus type	gene with protein product
Status	Approved
Aliases	TWA2
Ensembl gene	ENSG00000128585
Ensembl biotype	protein_coding
OMIM	605623
Entrez	4289

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 3 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000352689, ENST00000416992, ENST00000421797, ENST00000429546, ENST00000446815, ENST00000458153, ENST00000468830, ENST00000494286, ENST00000494785, ENST00000496815, ENST00000497746, ENST00000498778, ENST00000861933, ENST00000861934, ENST00000861935, ENST00000932007, ENST00000941406, ENST00000941407

RefSeq mRNA: 3 — MANE Select: NM_013255 NM_001145354, NM_001321316, NM_013255

CCDS: CCDS34754

Canonical transcript exons

ENST00000352689 — 18 exons

Exon	Start	End
ENSE00001380696	131487607	131496632
ENSE00001811486	131327876	131327997
ENSE00003478551	131388884	131388972
ENSE00003478779	131429033	131429145
ENSE00003488522	131437785	131437997
ENSE00003496638	131414645	131414710
ENSE00003505184	131399241	131399433
ENSE00003551588	131397267	131397376
ENSE00003564776	131445774	131445903
ENSE00003567524	131464294	131464408
ENSE00003583657	131411306	131411383
ENSE00003589425	131443481	131443702
ENSE00003595421	131387120	131387262
ENSE00003628812	131466276	131466415
ENSE00003636622	131375424	131375493
ENSE00003639260	131478623	131478677
ENSE00003648768	131463217	131463364
ENSE00003680164	131470842	131470944

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 96.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.1394 / max 651.2898, expressed in 1823 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81202	60.6057	1823
81201	3.4665	1526
81200	1.5127	630
81192	1.3738	688
81193	0.9379	445
81191	0.8141	455
81207	0.3658	148
81198	0.0629	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.10	gold quality
adrenal tissue	UBERON:0018303	94.46	gold quality
jejunal mucosa	UBERON:0000399	93.65	gold quality
buccal mucosa cell	CL:0002336	93.18	gold quality
nipple	UBERON:0002030	93.09	gold quality
lower lobe of lung	UBERON:0008949	92.96	gold quality
colonic epithelium	UBERON:0000397	92.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.18	gold quality
corpus callosum	UBERON:0002336	91.67	gold quality
secondary oocyte	CL:0000655	91.60	gold quality
tendon	UBERON:0000043	91.06	gold quality
cauda epididymis	UBERON:0004360	90.90	gold quality
caput epididymis	UBERON:0004358	90.52	gold quality
superficial temporal artery	UBERON:0001614	90.30	gold quality
seminal vesicle	UBERON:0000998	90.16	gold quality
urethra	UBERON:0000057	90.04	gold quality
skin of hip	UBERON:0001554	90.01	gold quality
lower esophagus mucosa	UBERON:0035834	90.00	gold quality
upper leg skin	UBERON:0004262	89.96	gold quality
jejunum	UBERON:0002115	89.90	gold quality
dorsal root ganglion	UBERON:0000044	89.84	gold quality
medial globus pallidus	UBERON:0002477	89.84	gold quality
globus pallidus	UBERON:0001875	89.64	gold quality
tonsil	UBERON:0002372	89.60	gold quality
blood	UBERON:0000178	89.40	gold quality
gastrocnemius	UBERON:0001388	89.22	gold quality
oocyte	CL:0000023	89.10	gold quality
trigeminal ganglion	UBERON:0001675	88.91	gold quality
tibial nerve	UBERON:0001323	88.72	gold quality
inferior vagus X ganglion	UBERON:0005363	88.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	10.83
E-ANND-3	yes	8.55

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

340 targeting MKLN1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-1277-5P	100.00	73.95	5056
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-4476	100.00	68.18	2030
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684

Literature-anchored findings (GeneRIF, showing 7)

• RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells (PMID:17467196)
• These novel findings identify a role for muskelin-RanBP9 complex in pathways that integrate cell morphology regulation and nucleocytoplasmic communication. (PMID:18710924)
• A meta-analysis genome wide association study suggest MKLN1 is associated with early-onset bipolar disorder. (PMID:27769005)
• GID E3 ligase supramolecular chelate assembly configures multipronged ubiquitin targeting of an oligomeric metabolic enzyme. (PMID:33905682)
• CircMKLN1 Suppresses the Progression of Human Retinoblastoma by Modulation of miR-425-5p/PDCD4 Axis. (PMID:33988065)
• The circRNA MKLN1 regulates autophagy in the development of diabetic retinopathy. (PMID:37549719)
• Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models. (PMID:38460002)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mkln1	ENSDARG00000025576
mus_musculus	Mkln1	ENSMUSG00000025609
rattus_norvegicus	Mkln1	ENSRNOG00000054514
drosophila_melanogaster	muskelin	FBGN0033757

Protein

Protein identifiers

Muskelin — Q9UL63 (reviewed: Q9UL63)

All UniProt accessions (6): Q9UL63, C9J7E8, C9JVL5, C9JWX9, C9JXB0, F8WEY7

UniProt curated annotations — full annotation on UniProt →

Function. Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation. Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1.

Subunit / interactions. Homodimer; may form higher oligomers. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Interacts with RANBP9. Part of a complex consisting of RANBP9, MKLN1 and GID8. Interacts with GABRA1. Interacts with the C-terminal tail of PTGER3.

Subcellular location. Cytoplasm. Cytosol. Nucleus. Nucleoplasm. Cell projection. Ruffle. Cell cortex. Synapse. Postsynapse.

Domain organisation. The LisH mediates head to tail dimerization.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UL63-1	1	yes
Q9UL63-2	2

RefSeq proteins (3): NP_001138826, NP_001308245, NP_037387* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006594	LisH	Conserved_site
IPR006595	CTLH_C	Domain
IPR006652	Kelch_1	Repeat
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR010565	Muskelin_N	Domain
IPR011043	Gal_Oxase/kelch_b-propeller	Homologous_superfamily
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR052456	CTLH_complex_component	Family
IPR056737	Beta-prop_ATRN-MKLN-like	Domain

Pfam: PF01344, PF06588, PF24981

UniProt features (20 total): sequence conflict 7, repeat 6, domain 2, initiator methionine 1, chain 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8TTQ	ELECTRON MICROSCOPY	3.27

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UL63-F1	89.75	0.73

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

4 pathways

ID	Pathway
R-HSA-9861718	Regulation of pyruvate metabolism
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-70268	Pyruvate metabolism

MSigDB gene sets: 247 (showing top): WENDT_COHESIN_TARGETS_UP, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, RACCACAR_AML_Q6, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_RUFFLE, RODRIGUES_NTN1_TARGETS_DN, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_RECEPTOR_INTERNALIZATION, WANG_LMO4_TARGETS_DN, AML_Q6, GOBP_REGULATION_OF_RECEPTOR_MEDIATED_ENDOCYTOSIS, chr7q32, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN

GO Biological Process (7): regulation of receptor internalization (GO:0002090), cell-matrix adhesion (GO:0007160), signal transduction (GO:0007165), regulation of cell shape (GO:0008360), actin cytoskeleton organization (GO:0030036), neurotransmitter receptor transport postsynaptic membrane to endosome (GO:0098968), vesicle-mediated transport in synapse (GO:0099003)

GO Molecular Function (3): identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (13): ubiquitin ligase complex (GO:0000151), ruffle (GO:0001726), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cell cortex (GO:0005938), postsynaptic endosome membrane (GO:0098895), GABA-ergic synapse (GO:0098982), postsynaptic specialization membrane of symmetric synapse (GO:0099164), nucleus (GO:0005634), cell projection (GO:0042995), synapse (GO:0045202), postsynapse (GO:0098794)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Pyruvate metabolism	1
Metabolism	1
Aerobic respiration and respiratory electron transport	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
synapse	3
vesicle-mediated transport	2
cytoplasm	2
receptor internalization	1
regulation of receptor-mediated endocytosis	1
cell-substrate adhesion	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of cell morphogenesis	1
regulation of biological quality	1
cytoskeleton organization	1
actin filament-based process	1
receptor localization to synapse	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
binding	1
intracellular protein-containing complex	1
transferase complex	1
cell leading edge	1
plasma membrane bounded cell projection	1
nuclear lumen	1
intracellular anatomical structure	1
cell periphery	1
endosome membrane	1
postsynaptic endosome	1
postsynaptic membrane	1
postsynaptic specialization of symmetric synapse	1
postsynaptic specialization membrane	1
intracellular membrane-bounded organelle	1
cell junction	1

Protein interactions and networks

STRING

1472 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MKLN1	RANBP9	Q96S59	993
MKLN1	GID8	Q9NWU2	984
MKLN1	RMND5A	Q9H871	945
MKLN1	RANBP10	Q6VN20	843
MKLN1	WDR26	Q9H7D7	840
MKLN1	GID4	Q8IVV7	790
MKLN1	OFD1	O75665	775
MKLN1	NOLC1	Q14978	766
MKLN1	TCOF1	Q13428	760
MKLN1	MPHOSPH8	Q99549	758
MKLN1	MAEA	Q7L5Y9	756
MKLN1	ARMC8	Q8IUR7	726
MKLN1	YPEL5	P62699	719
MKLN1	TBL1X	O60907	711
MKLN1	RMND5B	Q96G75	665

IntAct

193 interactions, top by confidence:

A	B	Type	Score
ARMC8	HTRA2	psi-mi:“MI:0914”(association)	0.750
ZMYND19	TNFAIP1	psi-mi:“MI:0914”(association)	0.670
CCDC120	AIP	psi-mi:“MI:0914”(association)	0.640
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
RANBP10	MAEA	psi-mi:“MI:0914”(association)	0.640
RANBP9	YPEL5	psi-mi:“MI:0914”(association)	0.640
NDUFS6	NDUFS8	psi-mi:“MI:0914”(association)	0.640
PRG2	YPEL5	psi-mi:“MI:0914”(association)	0.640
EIF3F	EIF3CL	psi-mi:“MI:0914”(association)	0.640
PNN	CASC3	psi-mi:“MI:0914”(association)	0.640
GID8	HTRA2	psi-mi:“MI:0914”(association)	0.610
HPF1	MKLN1	psi-mi:“MI:0915”(physical association)	0.590
CYREN	MKLN1	psi-mi:“MI:0915”(physical association)	0.560
ZBTB2	MKLN1	psi-mi:“MI:0915”(physical association)	0.560
MKLN1	MKLN1	psi-mi:“MI:0915”(physical association)	0.560
INSL6	POTEF	psi-mi:“MI:0914”(association)	0.530
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530
GPS2	DCTN6	psi-mi:“MI:0914”(association)	0.530
PIGT	ZNF609	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
HLA-DPB1	IDE	psi-mi:“MI:0914”(association)	0.530
JPH4	ZSWIM8	psi-mi:“MI:0914”(association)	0.530

BioGRID (190): MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), MKLN1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, D3Z7P3, E9PV86, G3MWR8, O54865, O60907, O89050, O94925, P13264, P16068, P20595, P58058, Q02153, Q08211, Q12800, Q13042, Q14722, Q28141, Q28D01, Q3MHJ2, Q3ULA2, Q4R8H1, Q4ZHR9, Q5R874, Q5RB35, Q5SP67, Q5SRY7, Q5ZHN3, Q6DN14, Q7RTP6, Q7T2U9, Q7Z6J6, Q8BTG7, Q8C6G8, Q8CJ19, Q8K4Q0, Q8N122, Q8N2K0, Q8R349

Diamond homologs: O13730, O89050, Q5RB35, Q99PV3, Q9UL63

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 192 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
Regulation of pyruvate metabolism	8	32.6×	3e-08
Post-translational protein phosphorylation	9	6.4×	3e-03
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	9	5.6×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3139 predictions. Top by Δscore:

Variant	Effect	Δscore
7:131327993:CCCGA:C	donor_gain	1.0000
7:131327994:CCGA:C	donor_gain	1.0000
7:131327995:CGA:C	donor_gain	1.0000
7:131327995:CGAGT:C	donor_loss	1.0000
7:131327996:GA:G	donor_gain	1.0000
7:131327996:GAG:G	donor_gain	1.0000
7:131327996:GAGTA:G	donor_loss	1.0000
7:131327997:AG:A	donor_loss	1.0000
7:131327998:G:GG	donor_gain	1.0000
7:131338979:GAATA:G	donor_gain	1.0000
7:131338984:G:GG	donor_gain	1.0000
7:131375417:A:AG	acceptor_gain	1.0000
7:131375419:TCCA:T	acceptor_loss	1.0000
7:131375420:CCA:C	acceptor_loss	1.0000
7:131375422:A:AG	acceptor_gain	1.0000
7:131375422:A:T	acceptor_loss	1.0000
7:131375422:AG:A	acceptor_gain	1.0000
7:131375423:G:GA	acceptor_loss	1.0000
7:131375423:G:GG	acceptor_gain	1.0000
7:131375423:GG:G	acceptor_gain	1.0000
7:131375494:G:GA	donor_loss	1.0000
7:131375494:G:GG	donor_gain	1.0000
7:131387118:A:AG	acceptor_gain	1.0000
7:131387118:A:AT	acceptor_loss	1.0000
7:131387119:G:GC	acceptor_gain	1.0000
7:131387119:GT:G	acceptor_gain	1.0000
7:131387119:GTA:G	acceptor_gain	1.0000
7:131387119:GTAC:G	acceptor_gain	1.0000
7:131387119:GTACT:G	acceptor_gain	1.0000
7:131387121:ACTT:A	acceptor_gain	1.0000

AlphaMissense

4934 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:131327969:A:C	S24R	1.000
7:131327971:C:A	S24R	1.000
7:131327971:C:G	S24R	1.000
7:131327987:T:G	Y30D	1.000
7:131327994:C:A	P32H	1.000
7:131375458:T:C	S45P	1.000
7:131375461:A:G	R46G	1.000
7:131375462:G:C	R46T	1.000
7:131375462:G:T	R46I	1.000
7:131375463:A:C	R46S	1.000
7:131375463:A:T	R46S	1.000
7:131375464:T:A	W47R	1.000
7:131375464:T:C	W47R	1.000
7:131375465:G:C	W47S	1.000
7:131375466:G:C	W47C	1.000
7:131375466:G:T	W47C	1.000
7:131387130:T:C	L60P	1.000
7:131387147:G:C	A66P	1.000
7:131387154:T:A	V68D	1.000
7:131387163:T:A	I71N	1.000
7:131387168:T:C	F73L	1.000
7:131387169:T:C	F73S	1.000
7:131387170:T:A	F73L	1.000
7:131387170:T:G	F73L	1.000
7:131387171:G:A	G74R	1.000
7:131387171:G:C	G74R	1.000
7:131387172:G:A	G74E	1.000
7:131387172:G:T	G74V	1.000
7:131387174:A:C	K75Q	1.000
7:131387174:A:G	K75E	1.000

dbSNP variants (sampled 300 via entrez): RS1000000274 (7:131183080 C>T), RS1000003618 (7:131311574 T>A,G), RS1000004105 (7:131221693 G>T), RS1000005063 (7:131423875 G>C,T), RS1000032439 (7:131273522 G>A), RS1000034967 (7:131311873 T>C,G), RS1000044218 (7:131354345 G>A), RS1000063444 (7:131469111 C>G,T), RS1000067669 (7:131168868 T>A), RS1000075030 (7:131111643 A>C), RS1000076557 (7:131328678 G>A), RS1000079555 (7:131133791 T>C,G), RS1000097684 (7:131192061 T>C), RS1000111840 (7:131431183 C>A,G), RS1000115588 (7:131478853 T>A)

Disease associations

OMIM: gene MIM:605623 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

80 associations (top):

Study	Trait	p-value
GCST002088_1	Asthma (childhood onset)	4.000000e-06
GCST002553_9	Pancreatic cancer	3.000000e-12
GCST002602_3	Vitamin D levels	5.000000e-06
GCST003182_2	Staphylococcus aureus nasal carriage (persistent)	2.000000e-06
GCST003742_1	Bipolar disorder (early onset)	6.000000e-07
GCST003818_23	Resting heart rate	1.000000e-16
GCST004143_2	Hypertension	4.000000e-06
GCST004279_15	Systolic blood pressure	2.000000e-12
GCST004747_1	Lung cancer in never smokers	8.000000e-08
GCST005958_14	Waist-to-hip ratio adjusted for BMI (age >50)	1.000000e-07
GCST005962_34	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-07
GCST006661_78	Male-pattern baldness	2.000000e-09
GCST006979_215	Heel bone mineral density	5.000000e-10
GCST007045_30	PR interval	3.000000e-15
GCST007748_1	Hyperglycemia in higher physical activity	4.000000e-08
GCST008103_182	Bipolar disorder	9.000000e-06
GCST009391_604	Metabolite levels	6.000000e-06
GCST010002_264	Refractive error	1.000000e-11
GCST010170_3	Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect)	8.000000e-07
GCST010304_64	Cutaneous malignant melanoma	9.000000e-09
GCST010321_120	PR interval	4.000000e-31
GCST010796_2026	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-10
GCST010796_2027	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_2028	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-11
GCST010796_2029	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_2030	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-10
GCST010796_2031	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_2032	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_2033	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_2034	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0007757	persistent Staphylococcus aureus carrier status
EFO:0006335	systolic blood pressure
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009270	heel bone mineral density
EFO:0004462	PR interval
EFO:0010505	isocitrate measurement
EFO:0005939	parental genotype effect measurement
EFO:0004327	electrocardiography
EFO:0004251	myeloproliferative disorder

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	5
methylmercuric chloride	affects cotreatment, decreases expression	3
trichostatin A	decreases expression, affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, increases expression	3
Aflatoxin B1	decreases methylation, increases expression, increases methylation	3
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Vehicle Emissions	affects expression, increases reaction, increases abundance, increases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
Particulate Matter	affects expression, increases reaction, increases abundance, increases expression	2
dicrotophos	decreases expression	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	affects methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine	affects expression, increases reaction	1

Clinical trials (associated diseases)

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