ANKS1A

Summary

ANKS1A (ankyrin repeat and sterile alpha motif domain containing 1A, HGNC:20961) is a protein-coding gene on chromosome 6p21.31, encoding Ankyrin repeat and SAM domain-containing protein 1A (Q92625). Regulator of different signaling pathways.

Predicted to enable ephrin receptor binding activity. Predicted to be involved in ephrin receptor signaling pathway; neuron remodeling; and substrate-dependent cell migration. Predicted to act upstream of or within negative regulation of ubiquitin-dependent protein catabolic process and regulation of ephrin receptor signaling pathway. Located in cytosol and nucleoplasm.

Source: NCBI Gene 23294 — RefSeq curated summary.

At a glance

• GWAS associations: 34
• Clinical variants (ClinVar): 204 total — 1 likely-pathogenic
• MANE Select transcript: NM_015245

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20961
Approved symbol	ANKS1A
Name	ankyrin repeat and sterile alpha motif domain containing 1A
Location	6p21.31
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0229
Ensembl gene	ENSG00000064999
Ensembl biotype	protein_coding
OMIM	608994
Entrez	23294

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 18 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000360359, ENST00000470698, ENST00000649117, ENST00000650178, ENST00000698906, ENST00000698907, ENST00000698908, ENST00000863285, ENST00000863286, ENST00000922342, ENST00000922343, ENST00000922344, ENST00000922345, ENST00000922346, ENST00000922347, ENST00000922348, ENST00000922349, ENST00000922350, ENST00000968231

RefSeq mRNA: 1 — MANE Select: NM_015245 NM_015245

CCDS: CCDS4798

Canonical transcript exons

ENST00000360359 — 24 exons

Exon	Start	End
ENSE00000849580	35082691	35082816
ENSE00001173903	35085766	35085936
ENSE00001173910	35084121	35084258
ENSE00001173919	35083417	35083503
ENSE00001173927	35083155	35083226
ENSE00001173943	35080994	35081158
ENSE00001372678	35086952	35087049
ENSE00001377921	35088606	35091406
ENSE00002287818	35017473	35018059
ENSE00002440921	34983324	34983425
ENSE00002463280	34981690	34981986
ENSE00002475037	34967239	34967319
ENSE00002481804	34994302	34994422
ENSE00002503877	34983113	34983214
ENSE00002504476	34970010	34970166
ENSE00002529791	34985082	34985278
ENSE00002530481	34982752	34982827
ENSE00002533567	34989224	34989316
ENSE00002535060	35054099	35054165
ENSE00003532816	35079516	35079668
ENSE00003535745	35060147	35060253
ENSE00003602916	35079821	35079928
ENSE00003648748	35078558	35078656
ENSE00003847126	34889255	34889599

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.7187 / max 148.7481, expressed in 1657 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67384	5.4012	1655
67392	0.1755	77
67393	0.1420	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	97.33	gold quality
trigeminal ganglion	UBERON:0001675	96.60	gold quality
dorsal root ganglion	UBERON:0000044	95.32	gold quality
seminal vesicle	UBERON:0000998	94.89	gold quality
endothelial cell	CL:0000115	94.72	silver quality
saphenous vein	UBERON:0007318	94.27	gold quality
paraflocculus	UBERON:0005351	94.15	gold quality
bronchial epithelial cell	CL:0002328	94.07	gold quality
amniotic fluid	UBERON:0000173	94.05	gold quality
mucosa of urinary bladder	UBERON:0001259	94.00	gold quality
visceral pleura	UBERON:0002401	93.95	gold quality
hair follicle	UBERON:0002073	93.73	silver quality
epithelium of bronchus	UBERON:0002031	93.69	gold quality
bronchus	UBERON:0002185	93.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.51	gold quality
cerebellar vermis	UBERON:0004720	93.47	gold quality
lower esophagus	UBERON:0013473	93.47	gold quality
adult organism	UBERON:0007023	93.29	gold quality
metanephric glomerulus	UBERON:0004736	92.94	gold quality
lower lobe of lung	UBERON:0008949	92.87	gold quality
superficial temporal artery	UBERON:0001614	92.83	gold quality
placenta	UBERON:0001987	92.78	gold quality
skin of hip	UBERON:0001554	92.75	gold quality
urethra	UBERON:0000057	92.71	gold quality
renal glomerulus	UBERON:0000074	92.63	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.50	gold quality
cardia of stomach	UBERON:0001162	92.26	gold quality
sural nerve	UBERON:0015488	92.08	gold quality
gingival epithelium	UBERON:0001949	92.06	gold quality
caput epididymis	UBERON:0004358	91.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	26.42
E-ANND-3	yes	5.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

181 targeting ANKS1A, 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-3064-3P	100.00	70.09	1254
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AT-5P	99.96	70.83	2666
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-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-548AE-3P	99.93	72.66	4867

Literature-anchored findings (GeneRIF, showing 9)

• RINL, as a GEF for Rab5 subfamily, is implicated in the EphA8-degradation pathway via its interaction with odin. (PMID:22291991)
• Sam (sterile alpha motif) domains of Odin, a member of the ANKS (ankyrin repeat and sterile alpha motif domain-containing) family of proteins, are important for the regulation of EphA2 endocytosis. (PMID:22332920)
• structural and binding affinity between odin and arap3 (PMID:23239578)
• Odin (ANKS1A) modulates EGF receptor recycling and stability. (PMID:23825523)
• peptide fragments of Odin-Sam1 interacting with EphA2-Sam (PMID:26120079)
• This study reveals a novel mechanism that regulates the loading of RTKs into COPII vesicles. (PMID:27619642)
• ANKS1A genotype predicts cardiovascular events in patients with familial hypercholesterolemia. (PMID:34130940)
• The Role of the Adapter Protein Anks1a in the Regulation of Breast Cancer Cell Motility. (PMID:36717454)
• ANKS1A regulates LDL receptor-related protein 1 (LRP1)-mediated cerebrovascular clearance in brain endothelial cells. (PMID:38123547)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	anks1aa	ENSDARG00000062396
danio_rerio	anks1ab	ENSDARG00000078901
mus_musculus	Anks1	ENSMUSG00000024219
rattus_norvegicus	Anks1a	ENSRNOG00000000498
drosophila_melanogaster	CG4393	FBGN0039075
drosophila_melanogaster	CG11168	FBGN0039249

Paralogs (1): ANKS1B (ENSG00000185046)

Protein

Protein identifiers

Ankyrin repeat and SAM domain-containing protein 1A — Q92625 (reviewed: Q92625)

Alternative names: Odin

All UniProt accessions (6): Q92625, A0A3B3ISP1, A0A3B3ITU5, A0A8V8TME4, A0A8V8TMV9, A0A8V8TP68

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of different signaling pathways. Regulates EPHA8 receptor tyrosine kinase signaling to control cell migration and neurite retraction.

Subunit / interactions. Interacts (via SAM domain) with EPHA2 (via SAM domain). Interacts with EPHA8; EPHA8 kinase activity-independent but stimulated by EPHA8 ubiquitination. Interacts (via SAM domain) with EPHA6 (via SAM domain).

Subcellular location. Cytoplasm. Cell projection.

Tissue specificity. Widely expressed (at protein level).

Post-translational modifications. Phosphorylated on tyrosine residues in response to EGF and PDGF.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92625-1	1	yes
Q92625-2	2

RefSeq proteins (1): NP_056060* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001660	SAM	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR006020	PTB/PI_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR033635	ANKS1/Caskin	Family
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR041880	SAM_ANKS1_repeat1	Domain
IPR041882	SAM_ANKS1_repeat2	Domain

Pfam: PF00536, PF00640, PF12796

UniProt features (52 total): modified residue 14, compositionally biased region 9, region of interest 7, repeat 6, helix 5, domain 3, splice variant 2, sequence variant 2, initiator methionine 1, chain 1, turn 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2LMR	SOLUTION NMR
2MYQ	SOLUTION NMR
6F7O	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92625-F1	60.78	0.25

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 (14): 2, 318, 507, 620, 622, 624, 626, 628, 647, 661, 663, 666, 677, 887

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 234 (showing top): AHRARNT_01, PAX4_01, GOBP_NEURON_MATURATION, GOBP_NEUROGENESIS, PAX2_01, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GGGCATT_MIR365, GOBP_CELL_MATURATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_EPHRIN_RECEPTOR_SIGNALING_PATHWAY, MAGRANGEAS_MULTIPLE_MYELOMA_IGLL_VS_IGLK_DN, DOUGLAS_BMI1_TARGETS_DN, ATF4_Q2, AACTTT_UNKNOWN

GO Biological Process (3): substrate-dependent cell migration (GO:0006929), neuron remodeling (GO:0016322), ephrin receptor signaling pathway (GO:0048013)

GO Molecular Function (2): ephrin receptor binding (GO:0046875), protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytosol (GO:0005829), neuron projection (GO:0043005), cytoplasm (GO:0005737), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cell migration	1
neuron maturation	1
cell surface receptor protein tyrosine kinase signaling pathway	1
signaling receptor binding	1
binding	1
nuclear lumen	1
cytoplasm	1
plasma membrane bounded cell projection	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2018 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKS1A	TCP11	Q8WWU5	630
ANKS1A	TAF11	Q15544	576
ANKS1A	FANCE	Q9HB96	569
ANKS1A	SCUBE3	Q8IX30	543
ANKS1A	NT5C2	P49902	517
ANKS1A	FAM180A	Q6UWF9	514
ANKS1A	KLHL35	Q6PF15	511
ANKS1A	LRRC20	Q8TCA0	492
ANKS1A	BLTP3A	Q6BDS2	491
ANKS1A	RINL	Q6ZS11	487
ANKS1A	SMG6	Q86US8	481
ANKS1A	ANKRD46	Q86W74	481
ANKS1A	SLC25A29	Q8N8R3	465
ANKS1A	FAM219B	Q5XKK7	451
ANKS1A	PI15	O43692	449

IntAct

108 interactions, top by confidence:

A	B	Type	Score
YWHAG	ANKS1A	psi-mi:“MI:0915”(physical association)	0.900
HIF1AN	APBA3	psi-mi:“MI:0914”(association)	0.850
RIN1	NRAS	psi-mi:“MI:0914”(association)	0.840
EGFR	ANKS1A	psi-mi:“MI:0915”(physical association)	0.790
RIN1	ABL1	psi-mi:“MI:0914”(association)	0.790
ANKS1A	EGFR	psi-mi:“MI:0407”(direct interaction)	0.790
ANKS1A	EGFR	psi-mi:“MI:0915”(physical association)	0.790
RFXANK	RFXAP	psi-mi:“MI:0914”(association)	0.780
YWHAB	WDR62	psi-mi:“MI:0914”(association)	0.770
HIF1AN	GMDS	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
SFN	ANKS1A	psi-mi:“MI:0915”(physical association)	0.540
DEF6	ARHGAP42	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAE	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	YWHAE	psi-mi:“MI:0914”(association)	0.530
ASB6	POLR2D	psi-mi:“MI:0914”(association)	0.530
ANKS1A	PIK3R3	psi-mi:“MI:0915”(physical association)	0.490

BioGRID (201): ANKS1A (Two-hybrid), ANKS1A (Affinity Capture-MS), PIK3R3 (Two-hybrid), ARHGAP10 (Two-hybrid), DOK3 (Two-hybrid), KLF15 (Two-hybrid), NHLRC2 (Two-hybrid), TRIT1 (Two-hybrid), RANBP3 (Two-hybrid), RB1 (Two-hybrid), SMARCD1 (Two-hybrid), ANKS1A (PCA), ANKS1A (Affinity Capture-Luminescence), ANKS1A (Affinity Capture-MS), ANKS1A (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3NFE2, A0FI79, A1A5B6, A4D2P6, D7PF45, F1LXF1, O15357, O60346, O75808, P11274, P49796, P52734, P53349, P59672, P70268, P78524, P98174, Q0QWG9, Q13233, Q13905, Q16825, Q3MII6, Q50H33, Q5RDA9, Q62925, Q63433, Q6NS60, Q6P549, Q6PDJ6, Q6WVG3, Q7Z5H3, Q8BL80, Q8BUP8, Q8N2R8, Q8TF61, Q8VHK2, Q8WXD9, Q924W7, Q92625, Q96CX2

Diamond homologs: A0A8I3NFE2, A0FI79, A0JNB0, A1Y2K1, A6QLK6, B2RZ59, B5KFD7, D3ZGS3, D7PF45, F1RDG9, G5ECJ6, O14306, O14796, O15357, O35324, O60880, O88890, O88900, P00519, P00520, P00521, P00522, P03949, P06239, P06241, P09851, P0CE43, P10447, P17713, P20936, P29350, P29351, P32019, P34370, P39688, P42684, P42685, P42686, P50904, P53356

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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
Activation of BAD and translocation to mitochondria	7	80.8×	3e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	71.2×	4e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	71.2×	4e-10
Activation of BH3-only proteins	7	52.7×	3e-09
RHO GTPases activate PKNs	8	38.5×	3e-09
SHC1 events in ERBB2 signaling	5	36.0×	9e-06
Signaling by ERBB2 TMD/JMD mutants	5	36.0×	9e-06
Intrinsic Pathway for Apoptosis	8	35.5×	3e-09

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	21.6×	7e-04
epidermal growth factor receptor signaling pathway	6	17.5×	6e-04
Ras protein signal transduction	6	14.5×	7e-04
cell surface receptor protein tyrosine kinase signaling pathway	5	10.2×	9e-03
intracellular protein localization	8	9.8×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	159
Likely benign	15
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	Likely pathogenic

SpliceAI

6551 predictions. Top by Δscore:

Variant	Effect	Δscore
6:34911281:GGTT:G	donor_gain	1.0000
6:34967237:A:AG	acceptor_gain	1.0000
6:34967237:AGC:A	acceptor_loss	1.0000
6:34967238:G:GA	acceptor_gain	1.0000
6:34967238:GC:G	acceptor_gain	1.0000
6:34967238:GCA:G	acceptor_gain	1.0000
6:34967238:GCAT:G	acceptor_gain	1.0000
6:34967313:GCCA:G	donor_gain	1.0000
6:34967316:ATAA:A	donor_gain	1.0000
6:34967318:AA:A	donor_gain	1.0000
6:34967320:G:GG	donor_gain	1.0000
6:34970009:GGGAT:G	acceptor_gain	1.0000
6:34970175:G:GT	donor_gain	1.0000
6:34970176:A:T	donor_gain	1.0000
6:34970179:G:GT	donor_gain	1.0000
6:34970180:G:T	donor_gain	1.0000
6:34981686:TTA:T	acceptor_loss	1.0000
6:34981687:TA:T	acceptor_loss	1.0000
6:34981688:AG:A	acceptor_loss	1.0000
6:34981689:GA:G	acceptor_gain	1.0000
6:34981689:GAA:G	acceptor_gain	1.0000
6:34981689:GAAC:G	acceptor_gain	1.0000
6:34981689:GAACA:G	acceptor_gain	1.0000
6:34981984:CAG:C	donor_loss	1.0000
6:34981985:AGGTA:A	donor_loss	1.0000
6:34981986:GGTAG:G	donor_loss	1.0000
6:34981987:G:C	donor_loss	1.0000
6:34982750:A:AG	acceptor_gain	1.0000
6:34982751:G:GC	acceptor_gain	1.0000
6:34983210:TGAAG:T	donor_loss	1.0000

AlphaMissense

7425 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:34889422:T:C	L7P	1.000
6:34889434:C:A	A11D	1.000
6:34889442:G:T	G14W	1.000
6:34889443:G:T	G14V	1.000
6:34967289:C:A	P83H	1.000
6:34967292:T:C	L84P	1.000
6:34967300:G:C	A87P	1.000
6:34967301:C:A	A87D	1.000
6:34967303:G:C	A88P	1.000
6:34967304:C:A	A88D	1.000
6:34970018:T:A	V96D	1.000
6:34970027:T:A	L99H	1.000
6:34970027:T:C	L99P	1.000
6:34970060:A:T	D110V	1.000
6:34970078:C:A	P116H	1.000
6:34970078:C:G	P116R	1.000
6:34970093:C:A	A121D	1.000
6:34970095:T:A	W122R	1.000
6:34970095:T:C	W122R	1.000
6:34970102:G:T	G124V	1.000
6:34970126:T:C	L132P	1.000
6:34981712:T:C	L153P	1.000
6:34981757:T:C	L168P	1.000
6:34981790:A:T	N179I	1.000
6:34981791:C:A	N179K	1.000
6:34981791:C:G	N179K	1.000
6:34981808:C:A	P185H	1.000
6:34981808:C:G	P185R	1.000
6:34981817:T:C	L188P	1.000
6:35078586:T:C	L738P	1.000

dbSNP variants (sampled 300 via entrez): RS1000013480 (6:34946497 A>G), RS1000027767 (6:35030340 C>G,T), RS1000031677 (6:34894329 G>A,T), RS1000048247 (6:34932530 G>A), RS1000057165 (6:35059570 C>G,T), RS1000061131 (6:34893529 A>G), RS1000121390 (6:35001964 C>A,T), RS1000143811 (6:34929208 G>A,T), RS1000147538 (6:35055543 T>C), RS1000157991 (6:34938316 A>C), RS1000202251 (6:35008729 T>C), RS1000234802 (6:35004144 C>T), RS1000240976 (6:35092035 C>G,T), RS1000257036 (6:35088044 A>T), RS1000259843 (6:34979590 T>C)

Disease associations

OMIM: gene MIM:608994 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST000175_47	Height	4.000000e-08
GCST000998_18	Coronary heart disease	1.000000e-08
GCST001053_4	Alcoholism (alcohol use disorder factor score)	4.000000e-06
GCST001054_2	Alcoholism (alcohol dependence factor score)	4.000000e-06
GCST001734_7	Non-small cell lung cancer	6.000000e-06
GCST001762_890	Obesity-related traits	7.000000e-06
GCST001956_25	Height	8.000000e-12
GCST002289_13	Coronary artery disease	6.000000e-06
GCST004063_26	Waist circumference adjusted for body mass index	1.000000e-08
GCST004500_125	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	2.000000e-06
GCST004501_27	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-06
GCST004787_7	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	2.000000e-06
GCST008163_538	Height	2.000000e-10
GCST010002_50	Refractive error	4.000000e-34
GCST010702_101	Subcortical volume (MOSTest)	2.000000e-08
GCST010703_346	Brain morphology (MOSTest)	4.000000e-10
GCST012226_475	Waist circumference adjusted for body mass index	2.000000e-08
GCST012227_959	Hip circumference adjusted for BMI	1.000000e-09
GCST012227_960	Hip circumference adjusted for BMI	8.000000e-11
GCST012227_963	Hip circumference adjusted for BMI	2.000000e-14
GCST012227_964	Hip circumference adjusted for BMI	4.000000e-09
GCST012227_965	Hip circumference adjusted for BMI	3.000000e-16
GCST012227_966	Hip circumference adjusted for BMI	1.000000e-24
GCST012227_967	Hip circumference adjusted for BMI	3.000000e-15
GCST012229_108	Hip index	1.000000e-08
GCST012229_109	Hip index	3.000000e-09
GCST90002395_443	Mean platelet volume	7.000000e-16
GCST90002401_520	Platelet distribution width	3.000000e-13
GCST90020027_1143	Waist-hip index	2.000000e-08
GCST90020028_675	Hip circumference adjusted for BMI	1.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005115	metabolic rate measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004318	smoking behavior
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007984	platelet component distribution width
EFO:0007788	BMI-adjusted waist-hip ratio

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	3
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
coumarin	affects phosphorylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	increases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Cytarabine	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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