TRAPPC14

Summary

TRAPPC14 (trafficking protein particle complex subunit 14, HGNC:25604) is a protein-coding gene on chromosome 7q22.1, encoding Trafficking protein particle complex subunit 14 (Q8WVR3). Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether.

Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly 25.

Source: NCBI Gene 55262 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal recessive primary microcephaly (Supportive, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 24 total — 1 pathogenic
• Phenotypes (HPO): 26
• MANE Select transcript: NM_018275

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25604
Approved symbol	TRAPPC14
Name	trafficking protein particle complex subunit 14
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10925
Ensembl gene	ENSG00000146826
Ensembl biotype	protein_coding
OMIM	618350
Entrez	55262

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron

ENST00000316937, ENST00000394035, ENST00000419037, ENST00000419841, ENST00000448720, ENST00000456769, ENST00000457641, ENST00000470260, ENST00000472061, ENST00000498638, ENST00000950372, ENST00000950373

RefSeq mRNA: 2 — MANE Select: NM_018275 NM_001303470, NM_018275

CCDS: CCDS5687, CCDS78261

Canonical transcript exons

ENST00000316937 — 11 exons

Exon	Start	End
ENSE00000977581	100156386	100156549
ENSE00001133319	100157843	100157938
ENSE00001256353	100158089	100158723
ENSE00003514065	100157373	100157459
ENSE00003552586	100157094	100157214
ENSE00003631654	100155671	100155825
ENSE00003641453	100157633	100157762
ENSE00003665601	100156634	100156716
ENSE00003669291	100156845	100156992
ENSE00003672975	100155262	100155455
ENSE00003845176	100154423	100155164

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 96.11.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.8585 / max 352.0826, expressed in 1809 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85164	21.8585	1809

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.11	gold quality
granulocyte	CL:0000094	95.62	gold quality
right testis	UBERON:0004534	94.35	gold quality
left testis	UBERON:0004533	94.20	gold quality
spleen	UBERON:0002106	94.04	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.63	gold quality
cerebellar hemisphere	UBERON:0002245	93.10	gold quality
cerebellar cortex	UBERON:0002129	93.01	gold quality
blood	UBERON:0000178	92.51	gold quality
metanephros cortex	UBERON:0010533	92.28	gold quality
adenohypophysis	UBERON:0002196	92.26	gold quality
transverse colon	UBERON:0001157	92.19	gold quality
skin of abdomen	UBERON:0001416	92.16	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.98	gold quality
cerebellum	UBERON:0002037	91.74	gold quality
testis	UBERON:0000473	91.59	gold quality
lower esophagus mucosa	UBERON:0035834	91.37	gold quality
cervix squamous epithelium	UBERON:0006922	91.36	silver quality
pituitary gland	UBERON:0000007	91.15	gold quality
skin of leg	UBERON:0001511	91.11	gold quality
right lobe of thyroid gland	UBERON:0001119	91.09	gold quality
lymph node	UBERON:0000029	90.95	gold quality
body of stomach	UBERON:0001161	90.93	gold quality
right frontal lobe	UBERON:0002810	89.98	gold quality
left lobe of thyroid gland	UBERON:0001120	89.95	gold quality
small intestine	UBERON:0002108	89.86	gold quality
esophagus mucosa	UBERON:0002469	89.76	gold quality
tendon of biceps brachii	UBERON:0008188	89.51	silver quality
minor salivary gland	UBERON:0001830	89.48	gold quality
right lobe of liver	UBERON:0001114	89.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

58 targeting TRAPPC14, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4319	99.76	69.83	2586

Literature-anchored findings (GeneRIF, showing 1)

• C7orf43 directly binds to Rabin8 and that C7orf43 knockdown diminishes Rabin8 preciliary centrosome accumulation. (PMID:31467083)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	trappc14	ENSDARG00000078891
mus_musculus	Trappc14	ENSMUSG00000036948
rattus_norvegicus	Trappc14	ENSRNOG00000039214

Protein

Protein identifiers

Trafficking protein particle complex subunit 14 — Q8WVR3 (reviewed: Q8WVR3)

Alternative names: Microtubule-associated protein 11

All UniProt accessions (6): Q8WVR3, B3KNS5, C9JMZ9, E9PFF9, F8WFE0, H7C1F8

UniProt curated annotations — full annotation on UniProt →

Function. Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether. TRAPP II complex also has GEF activity toward RAB1A. TRAPPC14 is dispensable for TRAPPII complex integrity but mediates RAB3IP preciliary vesicle trafficking to the mother centriole during ciliogenesis. Modulates YAP1 activity as transcriptional regulator.

Subunit / interactions. Component of the multisubunit TRAPP II complex, which includes at least TRAPPC1, TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC4, TRAPPC5, TRAPPC6A/B, TRAPPC9, TRAPPC10 and TRAPPC14. TRAPPC9, TRAPPC10 and TRAPPC14 are specific subunits of the TRAPP II complex. Interacts with alpha-tubulin during mitosis. Interacts with RAB3IP (via the N-terminal region); this interaction mediates RAB3IP association with the TRAPP II complex. Interacts with TRAPPC10. Interacts with FBF1.

Subcellular location. Cytoplasm. Cytoskeleton. Spindle. Vesicle. Midbody.

Tissue specificity. Broadly expressed. High levels in brain, cerebellum, testis and whole blood.

Disease relevance. Microcephaly 25, primary, autosomal recessive (MCPH25) [MIM:618351] A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WVR3-1	1	yes
Q8WVR3-2	2
Q8WVR3-3	3

RefSeq proteins (2): NP_001290399, NP_060745* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031626	TRAPPC14	Family
IPR055452	TRAPP14_C	Domain
IPR055453	TRAPP14_N	Domain

Pfam: PF15806, PF23652

UniProt features (19 total): splice variant 5, modified residue 4, compositionally biased region 4, region of interest 2, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVR3-F1	71.53	0.21

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 (4): 546, 491, 517, 541

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 243 (showing top): GCM_GSPT1, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GCM_NUMA1, DOUGLAS_BMI1_TARGETS_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GCM_NF2, GOBP_CELL_PROJECTION_ORGANIZATION, DBP_Q6, GOCC_SPINDLE, GOCC_MITOTIC_SPINDLE, GOCC_MIDBODY, GOCC_CENTRIOLAR_SATELLITE

GO Biological Process (3): regulation of cell population proliferation (GO:0042127), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (2): alpha-tubulin binding (GO:0043014), protein binding (GO:0005515)

GO Cellular Component (9): plasma membrane (GO:0005886), midbody (GO:0030496), centriolar satellite (GO:0034451), mitotic spindle (GO:0072686), TRAPPII protein complex (GO:1990071), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856), vesicle (GO:0031982)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular membraneless organelle	2
cell population proliferation	1
regulation of cellular process	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
tubulin binding	1
binding	1
membrane	1
cell periphery	1
centrosome	1
spindle	1
endosome	1
Golgi apparatus	1
TRAPP complex	1
intracellular anatomical structure	1
microtubule cytoskeleton	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

410 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRAPPC14	MAP10	Q9P2G4	618
TRAPPC14	RAB3IP	Q96QF0	585
TRAPPC14	NCAPH	Q15003	538
TRAPPC14	ZNF335	Q9H4Z2	527
TRAPPC14	ANKLE2	Q86XL3	523
TRAPPC14	NUP37	Q8NFH4	521
TRAPPC14	NCAPD3	P42695	507
TRAPPC14	COPB2	P35606	493
TRAPPC14	NCAPD2	Q15021	467
TRAPPC14	KIF14	Q15058	456
TRAPPC14	WDR62	O43379	450
TRAPPC14	NAT16	Q8N8M0	445
TRAPPC14	WDFY3	Q8IZQ1	430
TRAPPC14	MAP4K4	O95819	421
TRAPPC14	CEP152	O94986	419

IntAct

75 interactions, top by confidence:

A	B	Type	Score
RUFY4	NDC80	psi-mi:“MI:0914”(association)	0.830
SART1	PRPF6	psi-mi:“MI:0914”(association)	0.750
SART1	PRPF3	psi-mi:“MI:0914”(association)	0.720
PTGR3	DBT	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
KANK4	TRAPPC3	psi-mi:“MI:0914”(association)	0.640
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
TGM1	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560
AGXT	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560
VWC2	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-1	TRAPPC14	psi-mi:“MI:0915”(physical association)	0.560
TRAPPC2L	TRAPPC13	psi-mi:“MI:0914”(association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
TRAPPC1	TRAPPC13	psi-mi:“MI:0914”(association)	0.530
BCL2L14	CHEK1	psi-mi:“MI:0914”(association)	0.530
CABS1	TRAPPC10	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
BCL2L14		psi-mi:“MI:0914”(association)	0.350
	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TRAPPC5	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TRAPPC1	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
GLB1		psi-mi:“MI:0914”(association)	0.350

BioGRID (53): C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXN2, A2AWP8, O88842, O95267, P29590, P52734, P98174, Q1LY10, Q29RM4, Q2TBA3, Q3TAA7, Q3U0J8, Q3UTZ3, Q496Y0, Q4VX76, Q568M3, Q58D15, Q5BIM1, Q5JSP0, Q5R5M3, Q5R5T1, Q5REJ9, Q5W0U4, Q68FF6, Q69Z89, Q69ZK0, Q6PFY8, Q7TNM2, Q7Z4K8, Q7Z5H3, Q7Z6J4, Q80V85, Q8BY35, Q8BZ52, Q8C190, Q8N1F8, Q8TCU6, Q8WVR3, Q96JH8, Q99N48

Diamond homologs: E7F240, Q3UTZ3, Q8WVR3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 59 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	84.0×	5e-07
COPII-mediated vesicle transport	5	20.4×	1e-04
RAB GEFs exchange GTP for GDP on RABs	6	18.6×	3e-05
G2/M DNA damage checkpoint	6	18.0×	3e-05
Cell Cycle Checkpoints	6	13.3×	1e-04
RHO GTPase Effectors	6	10.2×	4e-04
Transcriptional Regulation by TP53	5	7.8×	4e-03
Signaling by Rho GTPases	8	6.8×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle tethering	6	114.4×	1e-09
endoplasmic reticulum to Golgi vesicle-mediated transport	7	18.3×	8e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	3
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
619595	NM_018275.5(TRAPPC14):c.613G>T (p.Glu205Ter)	Pathogenic

SpliceAI

1501 predictions. Top by Δscore:

Variant	Effect	Δscore
7:100155256:CTGTA:C	donor_loss	1.0000
7:100155257:TGTA:T	donor_loss	1.0000
7:100155258:GTAC:G	donor_loss	1.0000
7:100155259:TAC:T	donor_loss	1.0000
7:100155260:A:AC	donor_gain	1.0000
7:100155261:C:A	donor_loss	1.0000
7:100155261:C:CC	donor_gain	1.0000
7:100155261:CCT:C	donor_gain	1.0000
7:100155451:CTTAG:C	acceptor_gain	1.0000
7:100155452:TTAG:T	acceptor_gain	1.0000
7:100155453:TAG:T	acceptor_gain	1.0000
7:100155454:AG:A	acceptor_gain	1.0000
7:100155456:C:CC	acceptor_gain	1.0000
7:100155457:T:C	acceptor_loss	1.0000
7:100155666:CCCA:C	donor_loss	1.0000
7:100155667:CCAC:C	donor_loss	1.0000
7:100155668:CAC:C	donor_loss	1.0000
7:100155669:A:C	donor_loss	1.0000
7:100155685:T:TA	donor_gain	1.0000
7:100155686:C:A	donor_gain	1.0000
7:100155730:T:TA	donor_gain	1.0000
7:100155826:C:CC	acceptor_gain	1.0000
7:100155826:CT:C	acceptor_loss	1.0000
7:100155827:T:A	acceptor_loss	1.0000
7:100156384:ACCAG:A	donor_gain	1.0000
7:100156385:CCAG:C	donor_gain	1.0000
7:100156385:CCAGC:C	donor_gain	1.0000
7:100156712:AGGCC:A	acceptor_gain	1.0000
7:100156713:GGCC:G	acceptor_gain	1.0000
7:100156714:GCC:G	acceptor_gain	1.0000

AlphaMissense

3695 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:100155050:C:A	K568N	1.000
7:100155050:C:G	K568N	1.000
7:100155297:G:C	F518L	1.000
7:100155297:G:T	F518L	1.000
7:100155299:A:G	F518L	1.000
7:100155430:A:G	L474P	1.000
7:100155436:A:G	L472P	1.000
7:100155698:G:C	F456L	1.000
7:100155698:G:T	F456L	1.000
7:100155699:A:G	F456S	1.000
7:100155700:A:G	F456L	1.000
7:100155766:A:G	C434R	1.000
7:100156410:A:G	W406R	1.000
7:100156410:A:T	W406R	1.000
7:100156463:A:T	V388D	1.000
7:100156683:A:G	W343R	1.000
7:100156683:A:T	W343R	1.000
7:100157889:A:G	L154P	1.000
7:100157894:G:C	F152L	1.000
7:100157894:G:T	F152L	1.000
7:100157895:A:G	F152S	1.000
7:100157896:A:G	F152L	1.000
7:100157898:A:T	I151N	1.000
7:100158357:A:G	L48P	1.000
7:100158363:A:G	F46S	1.000
7:100158378:C:A	G41V	1.000
7:100158378:C:T	G41E	1.000
7:100158379:C:A	G41W	1.000
7:100158379:C:G	G41R	1.000
7:100158379:C:T	G41R	1.000

dbSNP variants (sampled 300 via entrez): RS1000062003 (7:100158471 TA>T), RS1000622990 (7:100159645 G>T), RS1001224117 (7:100154797 C>T), RS1001296171 (7:100154924 C>T), RS1002225274 (7:100156135 A>G), RS1003959439 (7:100158832 C>G), RS1003985598 (7:100154662 C>G), RS1004022862 (7:100154876 CA>C), RS1004304078 (7:100159509 G>A), RS1004359507 (7:100159250 T>A,G), RS1005470605 (7:100154100 G>A), RS1005821422 (7:100158021 T>G), RS1005868398 (7:100154344 A>G), RS1006921376 (7:100155351 A>G), RS1007871544 (7:100157237 C>T)

Disease associations

OMIM: gene MIM:618350 | disease phenotypes: MIM:618351

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal recessive primary microcephaly	Supportive	Autosomal recessive

Mondo (2): microcephaly 25, primary, autosomal recessive (MONDO:0032694), autosomal recessive primary microcephaly (MONDO:0016660)

Orphanet (0):

HPO phenotypes

26 total (26 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000076	Vesicoureteral reflux
HP:0000122	Unilateral renal agenesis
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000582	Upslanted palpebral fissure
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001302	Pachygyria
HP:0001347	Hyperreflexia
HP:0001510	Growth delay
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002144	Tethered cord
HP:0002282	Gray matter heterotopia
HP:0003103	Abnormal cortical bone morphology
HP:0003577	Congenital onset
HP:0004322	Short stature
HP:0007018	Attention deficit hyperactivity disorder
HP:0007333	Hypoplasia of the frontal lobes
HP:0010864	Severe intellectual disability
HP:0011451	Primary microcephaly
HP:6000184	Filum terminale lipoma

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST005845_4	Heart rate increase in response to exercise	3.000000e-16
GCST005846_7	Heart rate response to recovery post exercise (10 sec)	6.000000e-21
GCST005847_9	Heart rate response to recovery post exercise (20 sec)	3.000000e-21
GCST005848_15	Heart rate response to recovery post exercise (50 sec)	4.000000e-23
GCST005849_14	Heart rate response to recovery post exercise (40 sec)	6.000000e-24
GCST005850_6	Heart rate response to recovery post exercise (30 sec)	8.000000e-23
GCST010702_48	Subcortical volume (MOSTest)	6.000000e-10
GCST010703_289	Brain morphology (MOSTest)	6.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009184	heart rate response to exercise
EFO:0009185	heart rate response to recovery post exercise
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C579935	Autosomal Recessive Primary Microcephaly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	affects phosphorylation	1
sodium arsenite	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
(+)-JQ1 compound	increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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