DCST2

Summary

DCST2 (DC-STAMP domain containing 2, HGNC:26562) is a protein-coding gene on chromosome 1q21.3, encoding DC-STAMP domain-containing protein 2 (Q5T1A1). Essential sperm cell-surface protein required for sperm-egg fusion and fertilization.

Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and sperm-egg recognition. Predicted to be located in acrosomal membrane.

Source: NCBI Gene 127579 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 47 (top 2% of genes corpus-wide)
• Clinical variants (ClinVar): 185 total
• GTEx eGene: eQTL in 36 tissues, sQTL in 28 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.94 (unconstrained)
• MANE Select transcript: NM_144622
• Notable: 185 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26562
Approved symbol	DCST2
Name	DC-STAMP domain containing 2
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32934
Ensembl gene	ENSG00000163354
Ensembl biotype	protein_coding
OMIM	619861
Entrez	127579

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding

MANE Select: ENST00000368424

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2, TSL 3: 1, TSL 4: 1

ENST00000368424, ENST00000368423, ENST00000467991, ENST00000485982, ENST00000498036

RefSeq mRNA: 1 — MANE Select: NM_144622 NM_144622

CCDS: CCDS1082

Canonical transcript exons

ENST00000368424 — 15 exons

Exon	Start	End
ENSE00001073688	155031169	155031234
ENSE00001073690	155032667	155032768
ENSE00001073698	155033094	155033264
ENSE00001073701	155030432	155030645
ENSE00001073704	155031574	155031771
ENSE00001852891	155018527	155018760
ENSE00002176765	155033434	155033781
ENSE00003458531	155029233	155029397
ENSE00003476191	155023117	155023257
ENSE00003484939	155026302	155026402
ENSE00003497659	155030084	155030241
ENSE00003500680	155023832	155023959
ENSE00003522499	155026548	155026715
ENSE00003565312	155023364	155023457
ENSE00003606590	155024472	155024602

Expression profiles

Bgee: expression breadth ubiquitous, 155 present calls, max score 84.80.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0330 / max 18.6825, expressed in 8 samples.

Highest expression (Bgee): testis, skin of abdomen, skin of leg, male germ line stem cell (sensu Vertebrata) in testis, lower esophagus mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DCST2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 36 tissues and its splicing (sQTL) in 28 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 64 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Not Sun Exposed Suprapubic	sqtl	2.3e-129	-1.27	1:155029453:T:C
Skin Sun Exposed Lower leg	sqtl	1.1e-124	-1.20	1:155028528:G:C
Nerve Tibial	sqtl	1.3e-96	+1.16	1:155029453:T:C
Testis	sqtl	3.5e-84	-1.17	1:155029453:T:C
Esophagus Mucosa	sqtl	2.2e-38	-0.88	1:155029453:T:C
Adipose Subcutaneous	sqtl	7.3e-37	-0.79	1:155029453:T:C
Breast Mammary Tissue	sqtl	6.3e-34	-0.97	1:155027894:C:T
Thyroid	sqtl	7.0e-33	-0.76	1:155029453:T:C
Brain Cerebellar Hemisphere	eqtl	1.3e-30	-0.62	1:155029453:T:C
Brain Cerebellum	eqtl	4.9e-27	-0.80	1:155029453:T:C
Brain Nucleus accumbens basal ganglia	eqtl	1.6e-21	-0.61	1:155029453:T:C
Thyroid	eqtl	1.2e-20	-0.27	1:155029453:T:C
Colon Transverse	sqtl	1.2e-18	-0.70	1:155028528:G:C
Brain Cortex	eqtl	2.2e-18	-0.59	1:155029453:T:C
Prostate	sqtl	7.0e-16	-0.90	1:155028528:G:C
Adipose Visceral Omentum	sqtl	1.7e-15	-0.59	1:155028528:G:C
Stomach	sqtl	7.6e-15	-0.71	1:155029453:T:C
Lung	sqtl	3.7e-14	-0.58	1:155025198:T:A
Pituitary	eqtl	1.3e-13	-0.40	1:155025198:T:A
Artery Tibial	sqtl	2.5e-13	+0.48	1:155027894:C:T

FANTOM5 promoters

4 alternative TSS:

Promoter ID	TPM avg	Samples expressed
14891	0.0188	3
14893	0.0075	3
14894	0.0034	2
14892	0.0033	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	84.80	gold quality
left testis	UBERON:0004533	83.90	gold quality
skin of abdomen	UBERON:0001416	83.04	gold quality
skin of leg	UBERON:0001511	81.41	gold quality
testis	UBERON:0000473	80.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.23	gold quality
lower esophagus mucosa	UBERON:0035834	79.49	gold quality
zone of skin	UBERON:0000014	77.47	gold quality
ectocervix	UBERON:0012249	75.39	gold quality
tibial nerve	UBERON:0001323	75.12	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	74.16	gold quality
right lobe of liver	UBERON:0001114	74.11	gold quality
endocervix	UBERON:0000458	73.95	gold quality
minor salivary gland	UBERON:0001830	73.91	gold quality
vagina	UBERON:0000996	73.86	gold quality
mucosa of transverse colon	UBERON:0004991	73.62	gold quality
esophagus mucosa	UBERON:0002469	72.54	gold quality
granulocyte	CL:0000094	71.47	gold quality
transverse colon	UBERON:0001157	71.05	gold quality
small intestine Peyer’s patch	UBERON:0003454	70.53	gold quality
mouth mucosa	UBERON:0003729	70.38	gold quality
saliva-secreting gland	UBERON:0001044	69.28	gold quality
right uterine tube	UBERON:0001302	69.22	gold quality
body of uterus	UBERON:0009853	69.05	gold quality
cerebellar hemisphere	UBERON:0002245	68.99	gold quality
left ovary	UBERON:0002119	68.89	gold quality
cerebellar cortex	UBERON:0002129	68.80	gold quality
body of stomach	UBERON:0001161	68.73	gold quality
uterine cervix	UBERON:0000002	68.60	gold quality
right hemisphere of cerebellum	UBERON:0014890	68.51	gold quality
esophagus	UBERON:0001043	68.32	gold quality
left uterine tube	UBERON:0001303	67.91	gold quality
right ovary	UBERON:0002118	67.79	gold quality
right lobe of thyroid gland	UBERON:0001119	67.49	gold quality
small intestine	UBERON:0002108	67.42	gold quality
right adrenal gland cortex	UBERON:0035827	67.36	gold quality
omental fat pad	UBERON:0010414	67.30	gold quality
peritoneum	UBERON:0002358	67.22	gold quality
left lobe of thyroid gland	UBERON:0001120	67.21	gold quality
cerebellum	UBERON:0002037	66.71	gold quality
prostate gland	UBERON:0002367	66.69	gold quality
thyroid gland	UBERON:0002046	66.22	gold quality
subcutaneous adipose tissue	UBERON:0002190	66.16	gold quality
left coronary artery	UBERON:0001626	65.87	gold quality
adipose tissue of abdominal region	UBERON:0007808	65.84	gold quality
right adrenal gland	UBERON:0001233	65.76	gold quality
tibial artery	UBERON:0007610	65.69	gold quality
popliteal artery	UBERON:0002250	65.68	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	65.43	gold quality
mucosa of stomach	UBERON:0001199	65.42	gold quality
descending thoracic aorta	UBERON:0002345	65.39	gold quality
aorta	UBERON:0000947	65.31	gold quality
ascending aorta	UBERON:0001496	65.29	gold quality
muscle layer of sigmoid colon	UBERON:0035805	65.17	gold quality
thoracic aorta	UBERON:0001515	65.16	gold quality
apex of heart	UBERON:0002098	65.10	gold quality
gall bladder	UBERON:0002110	65.02	gold quality
left adrenal gland cortex	UBERON:0035825	64.84	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	64.72	gold quality
lower esophagus	UBERON:0013473	64.36	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	64.35	gold quality
coronary artery	UBERON:0001621	64.34	gold quality
left adrenal gland	UBERON:0001234	64.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	64.30	gold quality
stromal cell of endometrium	CL:0002255	64.27	gold quality
stomach	UBERON:0000945	64.18	gold quality
right coronary artery	UBERON:0001625	64.15	gold quality
ventricular zone	UBERON:0003053	63.80	gold quality
adrenal cortex	UBERON:0001235	63.62	gold quality
ovary	UBERON:0000992	63.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	63.56	gold quality
intestine	UBERON:0000160	63.49	gold quality
colon	UBERON:0001155	63.38	gold quality
fundus of stomach	UBERON:0001160	62.96	gold quality
sural nerve	UBERON:0015488	62.79	silver quality
ileal mucosa	UBERON:0000331	62.76	silver quality
large intestine	UBERON:0000059	62.59	gold quality
spinal cord	UBERON:0002240	62.50	gold quality
pancreatic ductal cell	CL:0002079	62.43	silver quality
right lung	UBERON:0002167	62.19	gold quality
gastrocnemius	UBERON:0001388	62.10	gold quality
anatomical system	UBERON:0000467	62.08	gold quality
smooth muscle tissue	UBERON:0001135	62.05	gold quality
spleen	UBERON:0002106	62.00	gold quality
metanephros cortex	UBERON:0010533	61.94	gold quality
upper lobe of left lung	UBERON:0008952	61.64	gold quality
multicellular organism	UBERON:0000468	61.63	gold quality
material anatomical entity	UBERON:0000465	61.61	gold quality
rectum	UBERON:0001052	61.55	gold quality
muscle of leg	UBERON:0001383	61.29	gold quality
adenohypophysis	UBERON:0002196	61.18	gold quality
upper lobe of lung	UBERON:0008948	60.84	gold quality
adrenal gland	UBERON:0002369	60.79	gold quality
body of pancreas	UBERON:0001150	60.70	gold quality
adipose tissue	UBERON:0001013	60.59	gold quality
heart left ventricle	UBERON:0002084	60.40	gold quality
hypothalamus	UBERON:0001898	60.27	gold quality
female reproductive system	UBERON:0000474	60.17	gold quality
right frontal lobe	UBERON:0002810	59.79	gold quality
leukocyte	CL:0000738	59.75	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-8060	no	47.13
E-ANND-3	no	2.20

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 65 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Retina	tissue	7.9
Skin 1	tissue	4.3
Testis	tissue	2.0
Vagina	tissue	1.5
Salivary gland	tissue	1.3
Duodenum	tissue	1.2
Small intestine	tissue	0.8
Fallopian tube	tissue	0.8
Seminal vesicle	tissue	0.6
Epididymis	tissue	0.6
Prostate	tissue	0.6
Breast	tissue	0.5
Stomach 1	tissue	0.5
Cerebral cortex	tissue	0.5
Endometrium 1	tissue	0.5
Medulla oblongata	tissue	0.5
Somatosensory cortex	tissue	0.5
Cervix	tissue	0.4
Adipose tissue	tissue	0.4
Esophagus	tissue	0.4
Rectum	tissue	0.4
Colon	tissue	0.4
Amygdala	tissue	0.4
Entorhinal cortex	tissue	0.4
Retrosplenial and cingulate cortex	tissue	0.4
Lymph node	tissue	0.3
Heart muscle	tissue	0.3
Pons	tissue	0.3
Ovary	tissue	0.3
Liver	tissue	0.3
Thymus	tissue	0.3
Hippocampal formation	tissue	0.3
Pituitary gland	tissue	0.2
Skeletal muscle	tissue	0.2
Smooth muscle	tissue	0.2
Frontal cortex	tissue	0.2
Putamen	tissue	0.2
Nucleus accumbens	tissue	0.2
Choroid plexus	tissue	0.2
Midbrain	tissue	0.2
Thalamus	tissue	0.2
Placenta	tissue	0.2
Thyroid gland	tissue	0.2
Spinal cord	tissue	0.2
Corpus callosum	tissue	0.2
Tonsil	tissue	0.2
Retrosplenial cortex	tissue	0.2
Occipital cortex	tissue	0.2
Urinary bladder	tissue	0.1
Basal ganglia	tissue	0.1
Hypothalamus	tissue	0.1
Cerebellum	tissue	0.1
Substantia nigra	tissue	0.1
Lung	tissue	0.1
Spleen	tissue	0.1
Gallbladder	tissue	0.1
Kidney	tissue	0.1
Locus coeruleus	tissue	0.1
Hippocampus	tissue	0.1
Adrenal gland	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 161; highest nTPM — Medial olivary nucleus (0.5), Temporal white matter (0.5), Corpus callosum, genu (white matter) (0.4), Nucleus tractus solitarii (0.4), Pontine nuclei (0.4).

Regulation

Is transcription factor: no

Functional genomics

gnomAD constraint: pLI 5.52e-17, LOEUF 0.941, missense Z 1.06 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000368424 — one region, missense o/e 0.94.

Literature-anchored findings (GeneRIF, showing 2)

• OS9 is critically involved in the modulation of ER-to-Golgi transport of DC-STAMP in response to TLR triggering, suggesting a novel role for OS9 in myeloid differentiation and cell fusion. (PMID:18952287)
• This study highlights that common variation in DCST2 influences variation in early growth and adult height. (PMID:25281659)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcst2	ENSDARG00000088693
mus_musculus	Dcst2	ENSMUSG00000109293
rattus_norvegicus	Dcst2	ENSRNOG00000058618
drosophila_melanogaster	CG6845	FBGN0035099
drosophila_melanogaster	CG32320	FBGN0052320

Paralogs (3): OCSTAMP (ENSG00000149635), DCST1 (ENSG00000163357), DCSTAMP (ENSG00000164935)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2685606) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
impaired fertilization	1
male infertility	1
preweaning lethality, complete penetrance	1

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ADAM15-EFNA4	ncRNA	125467744
EFNA4-EFNA3	protein-coding	125467750
DCST1	protein-coding	149095
EFNA1	protein-coding	1942
EFNA3	protein-coding	1944
EFNA4	protein-coding	1945
ZBTB7B	protein-coding	51043
ADAM15	protein-coding	8751
DCST1-AS1	ncRNA	100505666
LENEP	protein-coding	55891
FLAD1	protein-coding	80308
MIR4258	ncRNA	100423020
CKS1B	protein-coding	1163

Protein

Protein identifiers

DC-STAMP domain-containing protein 2 — Q5T1A1 (reviewed: Q5T1A1)

All UniProt accessions (2): Q5T1A1, H0YF62

UniProt curated annotations — full annotation on UniProt →

Function. Essential sperm cell-surface protein required for sperm-egg fusion and fertilization.

Subunit / interactions. Interacts with DCST1.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Acrosome membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T1A1-1	1	yes
Q5T1A1-2	2

RefSeq proteins (1): NP_653223* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012858	DC_STAMP-like	Domain
IPR051856	CSR-E3_Ligase_Protein	Family
IPR058842	DCST1_C	Domain

Pfam: PF07782, PF26037, PF26039

UniProt features (22 total): topological domain 7, transmembrane region 6, glycosylation site 3, compositionally biased region 2, splice variant 2, chain 1, region of interest 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T1A1-F1	73.49	0.17

Human Protein Atlas

Protein class: Predicted membrane proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Functional residue map

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

Glycosylation sites (3)

Type	Positions
N-linked (glcnac…) asparagine	284, 296, 480

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 40 (showing top): GOBP_SINGLE_FERTILIZATION, GOCC_SECRETORY_GRANULE, GOBP_MEMBRANE_FUSION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_SPERM_EGG_RECOGNITION, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PLASMA_MEMBRANE_FUSION, GOBP_MEMBRANE_ORGANIZATION, GOBP_FERTILIZATION, GOBP_CELL_CELL_RECOGNITION, GOCC_ACROSOMAL_MEMBRANE, GOCC_SECRETORY_VESICLE, chr1q21, GOCC_SECRETORY_GRANULE_MEMBRANE

GO Biological Process (2): fusion of sperm to egg plasma membrane involved in single fertilization (GO:0007342), sperm-egg recognition (GO:0035036)

GO Cellular Component (3): acrosomal membrane (GO:0002080), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

8 GO namespaces:

Category	Terms
single fertilization	2
cellular process involved in reproduction in multicellular organism	1
cell-cell recognition	1
acrosomal vesicle	1
secretory granule membrane	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

showing 15 of 310 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCST2	SPACA6	W5XKT8	846
DCST2	TMEM95	Q3KNT9	836
DCST2	IZUMO1	Q8IYV9	732
DCST2	FIMP1	Q96LL3	701
DCST2	DCST1	Q5T197	494
DCST2	IZUMO1R	A6ND01	478
DCST2	CLGN	O14967	474
DCST2	SPACA4	Q8TDM5	439
DCST2	FREY1	C9JXX5	406
DCST2	CD9	P21926	406
DCST2	PRAMEF6	Q5VXH4	400
DCST2	TMEM71	Q6P5X7	381
DCST2	COBLL1	Q53SF7	380
DCST2	SPACA9	Q96E40	370
DCST2	LGMN	Q99538	364

IntAct

BioGRID (3 interactions; top human partners by supporting records): BRCA2 (Affinity Capture-MS), PARP9 (Proximity Label-MS), RNF208 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for DCST2: 185 ClinVar records (0 pathogenic / likely pathogenic); 47 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	159
Likely benign	11
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 30 predictions of 1,628):

Position(s)	Effect	Δscore	Sites
1:155032665–155032666	donor_loss	1.0000	4
1:155033092–155033093	donor_loss	1.0000	4
1:155026300–155026301	donor_loss	0.9900	5
1:155026403–155026404	acceptor_loss	0.9900	6
1:155026501	donor_gain	0.9900
1:155026621	donor_gain	0.9900
1:155026716–155026717	acceptor_loss	0.9900	6
1:155030654	acceptor_gain	0.9900
1:155030663	acceptor_gain	0.9900
1:155031547	donor_gain	0.9900

AlphaMissense

918 missense substitutions predicted likely pathogenic (of 4,979 scored), across 332 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D426	8	0.950	0.973
N115	8	0.927	0.991
F281	8	0.883	0.972
F363	8	0.875	0.979
F283	8	0.872	0.989
N356	8	0.865	0.977
F213	8	0.811	0.941
C198	7	0.981	0.992
C242	7	0.974	0.988
C209	7	0.970	0.989
C252	7	0.965	0.981
C231	7	0.961	0.981
C220	7	0.957	0.975
C488	7	0.945	0.976
C125	7	0.941	0.968
C638	7	0.935	0.958
C617	7	0.927	0.955
C641	7	0.919	0.957
C630	7	0.913	0.946
C622	7	0.903	0.946

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:619861 | disease phenotypes:

GWAS associations

showing 30 of 47 associations:

Study	Trait	p-value
GCST90000025_209	Appendicular lean mass	8e-77
GCST007294_150	Body fat distribution (trunk fat ratio)	8e-35
GCST007295_72	Body fat distribution (leg fat ratio)	1e-28
GCST007294_159	Body fat distribution (trunk fat ratio)	6e-21
GCST90020025_170	Waist-to-hip ratio adjusted for BMI	1e-20
GCST90020027_58	Waist-hip index	1e-19
GCST008362_149	Birth weight	3e-19
GCST010303_17	Nevus count or cutaneous melanoma	2e-18
GCST007295_112	Body fat distribution (leg fat ratio)	7e-17
GCST010700_5	Cortical thickness (MOSTest)	8e-17
GCST007294_25	Body fat distribution (trunk fat ratio)	1e-15
GCST010304_26	Cutaneous malignant melanoma	4e-15
GCST90020025_172	Waist-to-hip ratio adjusted for BMI	2e-14
GCST010703_205	Brain morphology (MOSTest)	4e-14
GCST90020027_60	Waist-hip index	1e-13
GCST90020024_1180	A body shape index	2e-13
GCST007295_17	Body fat distribution (leg fat ratio)	3e-13
GCST90020028_1245	Hip circumference adjusted for BMI	1e-12
GCST008362_41	Birth weight	7e-11
GCST010696_10	Cortical thickness (min-P)	2e-10
GCST002782_131	Waist-to-hip ratio adjusted for body mass index	3e-10
GCST002782_230	Waist-to-hip ratio adjusted for body mass index	3e-10
GCST010697_21	Cortical surface area (min-P)	3e-10
GCST010702_25	Subcortical volume (MOSTest)	3e-10
GCST010796_4677	Electrocardiogram morphology (amplitude at temporal datapoints)	4e-10
GCST002782_228	Waist-to-hip ratio adjusted for body mass index	5e-10
GCST002782_229	Waist-to-hip ratio adjusted for body mass index	7e-10
GCST010699_50	Brain morphology (min-P)	7e-10
GCST90020028_1244	Hip circumference adjusted for BMI	8e-10
GCST010698_84	Subcortical volume (min-P)	9e-10

EFO canonical traits (from GWAS)

15 canonical traits:

EFO ID	Trait name
EFO:0006784	body height at birth
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004318	smoking behavior
EFO:0004341	body fat distribution
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004632	nevus count
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004327	electrocardiography
EFO:0004980	appendicular lean mass
EFO:0004842	eosinophil count
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases methylation, decreases methylation	2
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Sunitinib	increases expression	1
Amiodarone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.