SPATA13

Summary

SPATA13 (spermatogenesis associated 13, HGNC:23222) is a protein-coding gene on chromosome 13q12.12, encoding Spermatogenesis-associated protein 13 (Q96N96). Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases.

Enables guanyl-nucleotide exchange factor activity and identical protein binding activity. Involved in cell migration; plasma membrane bounded cell projection assembly; and regulation of cell migration. Located in several cellular components, including filopodium; lamellipodium; and ruffle membrane.

Source: NCBI Gene 221178 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary angle-closure glaucoma (Moderate, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 238 total
• MANE Select transcript: NM_001166271

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23222
Approved symbol	SPATA13
Name	spermatogenesis associated 13
Location	13q12.12
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31208, ARHGEF29, ASEF2
Ensembl gene	ENSG00000182957
Ensembl biotype	protein_coding
OMIM	613324
Entrez	221178

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000343003, ENST00000382095, ENST00000382108, ENST00000399949, ENST00000409126, ENST00000424834, ENST00000434675, ENST00000454083, ENST00000466831, ENST00000474317, ENST00000488060, ENST00000494772, ENST00000858038

RefSeq mRNA: 6 — MANE Select: NM_001166271 NM_001166271, NM_001286792, NM_001286793, NM_001286794, NM_001286795, NM_153023

CCDS: CCDS53857, CCDS66517, CCDS66518, CCDS73553, CCDS9305

Canonical transcript exons

ENST00000382108 — 13 exons

Exon	Start	End
ENSE00003707063	24251718	24251862
ENSE00003734361	24160720	24160932
ENSE00003888847	24300401	24300475
ENSE00003889000	24302598	24307069
ENSE00003889010	24222819	24224582
ENSE00003889152	24297363	24297735
ENSE00003890256	24290652	24290884
ENSE00003891029	24284135	24284271
ENSE00003891314	24249477	24249842
ENSE00003892153	24294739	24294868
ENSE00003892480	24286765	24286950
ENSE00003892785	24288999	24289178
ENSE00003894886	24286214	24286393

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 97.66.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	97.66	gold quality
pancreatic ductal cell	CL:0002079	96.82	gold quality
sural nerve	UBERON:0015488	96.81	gold quality
inferior vagus X ganglion	UBERON:0005363	95.75	gold quality
renal medulla	UBERON:0000362	94.81	gold quality
corpus callosum	UBERON:0002336	94.75	gold quality
subthalamic nucleus	UBERON:0001906	94.51	gold quality
ventricular zone	UBERON:0003053	94.33	gold quality
kidney epithelium	UBERON:0004819	94.31	gold quality
bronchial epithelial cell	CL:0002328	94.26	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.04	gold quality
trigeminal ganglion	UBERON:0001675	94.03	gold quality
bronchus	UBERON:0002185	93.99	gold quality
medulla oblongata	UBERON:0001896	93.94	gold quality
lateral globus pallidus	UBERON:0002476	93.68	gold quality
spleen	UBERON:0002106	93.28	gold quality
superior vestibular nucleus	UBERON:0007227	93.07	gold quality
substantia nigra pars reticulata	UBERON:0001966	93.06	gold quality
oviduct epithelium	UBERON:0004804	92.46	gold quality
lower lobe of lung	UBERON:0008949	92.29	gold quality
tibia	UBERON:0000979	92.25	gold quality
body of pancreas	UBERON:0001150	92.20	gold quality
dorsal root ganglion	UBERON:0000044	91.85	gold quality
substantia nigra pars compacta	UBERON:0001965	91.84	gold quality
dorsal plus ventral thalamus	UBERON:0001897	91.74	gold quality
jejunal mucosa	UBERON:0000399	91.41	gold quality
epithelium of nasopharynx	UBERON:0001951	91.18	gold quality
spinal cord	UBERON:0002240	91.07	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.66	gold quality
pylorus	UBERON:0001166	90.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

191 targeting SPATA13, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
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-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281

Literature-anchored findings (GeneRIF, showing 6)

• These results suggest that similar to Asef, Asef2 plays an important role in cell migration, and that Asef2 activated by truncated mutant APC is required for aberrant migration of colorectal tumor cells. (PMID:17599059)
• Asef2, Neurabin2 and APC cooperatively regulate actin cytoskeletal organization and are required for HGF-induced cell migration. (PMID:19151759)
• Asef2 activates Rac1 to modulate adhesion and actin dynamics and thereby regulate cell migration. (PMID:19934221)
• A new role for Rac activation, promoted by Asef2, in modulating actomyosin contractility. (PMID:24144700)
• Phosphorylation of S106 modulates Asef2 guanine nucleotide exchange factor activity and Asef2-mediated cell migration and adhesion turnover. (PMID:24874604)
• Mutations in SPATA13 cause primary angle closure glaucoma. (PMID:32339198)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	spata13	ENSDARG00000062837
mus_musculus	Spata13	ENSMUSG00000021990
rattus_norvegicus	Spata13	ENSRNOG00000013707

Paralogs (22): TRIO (ENSG00000038382), MCF2L2 (ENSG00000053524), PLEKHG2 (ENSG00000090924), MCF2 (ENSG00000101977), ARHGEF7 (ENSG00000102606), PLEKHG1 (ENSG00000120278), MCF2L (ENSG00000126217), ARHGEF6 (ENSG00000129675), ARHGEF9 (ENSG00000131089), VAV3 (ENSG00000134215), VAV1 (ENSG00000141968), TIAM2 (ENSG00000146426), KIAA1755 (ENSG00000149633), PLEKHG4B (ENSG00000153404), TIAM1 (ENSG00000156299), KALRN (ENSG00000160145), VAV2 (ENSG00000160293), ARHGEF40 (ENSG00000165801), SESTD1 (ENSG00000187231), PLEKHN1 (ENSG00000187583), PLEKHG4 (ENSG00000196155), ARHGEF25 (ENSG00000240771)

Protein

Protein identifiers

Spermatogenesis-associated protein 13 — Q96N96 (reviewed: Q96N96)

Alternative names: APC-stimulated guanine nucleotide exchange factor 2

All UniProt accessions (6): Q96N96, A0A024RDM6, E9PFR9, J3KQJ8, Q5VX67, V9GZ16

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases. Regulates cell migration and adhesion assembly and disassembly through a RAC1, PI3K, RHOA and AKT1-dependent mechanism. Increases both RAC1 and CDC42 activity, but decreases the amount of active RHOA. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Involved in tumor angiogenesis and may play a role in intestinal adenoma formation and tumor progression.

Subunit / interactions. Interacts (via ABR and SH3 domain) with APC. The binding of APC enhances its GEF activity by relieving it from an autoinhibitory conformation, in which the ABR and SH3 domains are associated with the C-terminal tail. Interacts (via C-terminal tail) with PPP1R9B (via C-terminus). Interacts with RAC1.

Subcellular location. Cytoplasm. Cell projection. Filopodium. Lamellipodium. Ruffle membrane. Podosome.

Tissue specificity. Expressed at high levels in the placenta, spleen and kidney, at moderate levels in lung, small intestine, liver, brain and heart, and at low levels in skeletal muscle. Expression is aberrantly enhanced in most colorectal tumors.

Activity regulation. Both the ABR and the SH3 domains contribute to maintaining the protein in an inhibited conformation by associating with the C-terminal tail. Binding of these domains to the C-terminal tail inhibits the activity of the protein by blocking a region that is required for its GEF activity.

Domain organisation. The C-terminal tail is required for its GEF activity.

Isoforms (6)

UniProt ID	Names	Canonical?
Q96N96-1	1, ASEF-2b	yes
Q96N96-2	2, ASEF-2a
Q96N96-3	3
Q96N96-4	4
Q96N96-5	5
Q96N96-6	6

RefSeq proteins (6): NP_001159743, NP_001273721, NP_001273722, NP_001273723, NP_001273724, NP_694568 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000219	DH_dom	Domain
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR055251	SOS1_NGEF_PH	Domain

Pfam: PF00018, PF00621, PF22697

UniProt features (22 total): splice variant 6, region of interest 5, domain 3, sequence conflict 3, modified residue 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96N96-F1	72.49	0.48

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 (2): 114, 78

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 220 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOCC_RUFFLE, UEDA_PERIFERAL_CLOCK, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_LAMELLIPODIUM_ORGANIZATION, PEREZ_TP53_AND_TP63_TARGETS, GOBP_CELL_PROJECTION_ORGANIZATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, RIGGI_EWING_SARCOMA_PROGENITOR_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN

GO Biological Process (5): cell migration (GO:0016477), lamellipodium assembly (GO:0030032), regulation of cell migration (GO:0030334), filopodium assembly (GO:0046847), regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (11): podosome (GO:0002102), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), lamellipodium (GO:0030027), filopodium (GO:0030175), ruffle membrane (GO:0032587), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	2
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
plasma membrane bounded cell projection assembly	2
actin-based cell projection	2
cell motility	1
lamellipodium organization	1
cell migration	1
regulation of cell motility	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
protein binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
cell leading edge	1
plasma membrane bounded cell projection	1
ruffle	1
cell projection membrane	1
leading edge membrane	1
membrane	1
cell periphery	1
cell junction	1

Protein interactions and networks

STRING

794 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SPATA13	PPP1R9B	Q96SB3	818
SPATA13	CDC42	P21181	717
SPATA13	RHOA	P06749	587
SPATA13	APC	P25054	581
SPATA13	TNK2	Q07912	508
SPATA13	ARHGAP17	Q68EM7	507
SPATA13	AMOT	Q4VCS5	507
SPATA13	RABIF	P47224	503
SPATA13	ARR3	P36575	496
SPATA13	PLEK	P08567	484
SPATA13	RGS2	P41220	453
SPATA13	FAM124B	Q9H5Z6	445
SPATA13	DIAPH2	O60879	437
SPATA13	NASP	P49321	409
SPATA13	PALS1	Q8N3R9	398

IntAct

11 interactions, top by confidence:

A	B	Type	Score
SPATA13	APC	psi-mi:“MI:0915”(physical association)	0.670
APC	SPATA13	psi-mi:“MI:0915”(physical association)	0.670
SPATA13	APC	psi-mi:“MI:0403”(colocalization)	0.670
SPATA13	YWHAE	psi-mi:“MI:0915”(physical association)	0.670
SPATA13	GLDC	psi-mi:“MI:0914”(association)	0.530
SFN	SPATA13	psi-mi:“MI:0915”(physical association)	0.400
SPATA13	DIRAS1	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): YWHAZ (Affinity Capture-MS), YWHAG (Affinity Capture-MS), YWHAE (Affinity Capture-MS), YWHAB (Affinity Capture-MS), GLDC (Affinity Capture-MS), YWHAH (Affinity Capture-MS), YWHAQ (Affinity Capture-MS), SPATA13 (Two-hybrid), SPATA13 (Affinity Capture-MS), SPATA13 (Affinity Capture-RNA), SPATA13 (Affinity Capture-MS), SPATA13 (FRET), YWHAQ (Affinity Capture-MS), GLDC (Affinity Capture-MS), DIRAS1 (Affinity Capture-MS)

ESM2 similar proteins: A1Z7A6, A2CEA7, A8JQ65, B3NYS4, B4I4Y1, B4JHJ7, B4R0A5, G5EDB9, G5EEW9, G5EFD2, G5EFI8, I2HAA0, O14827, O15013, O15085, O17237, O43150, O97902, P10911, P27671, P28818, P34578, P70392, Q13972, Q1AAU6, Q21653, Q22070, Q22720, Q5DU57, Q5W7F2, Q6NRL1, Q7SIG6, Q7XPJ0, Q8BXK8, Q8MLZ5, Q8S950, Q96N96, Q96P47, Q99JE4, Q9C6C3

Diamond homologs: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
SPATA13	“up-regulates activity”	CDC42	“guanine nucleotide exchange factor”
PPP1R9B	“up-regulates activity”	SPATA13	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	187
Likely benign	28
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

5457 predictions. Top by Δscore:

Variant	Effect	Δscore
13:24160929:GGAG:G	donor_gain	1.0000
13:24160930:GAGG:G	donor_gain	1.0000
13:24251714:GCA:G	acceptor_loss	1.0000
13:24251716:A:AG	acceptor_gain	1.0000
13:24251716:AGCC:A	acceptor_gain	1.0000
13:24251716:AGCCG:A	acceptor_gain	1.0000
13:24251717:G:A	acceptor_loss	1.0000
13:24251717:G:GT	acceptor_gain	1.0000
13:24251717:GC:G	acceptor_gain	1.0000
13:24251717:GCC:G	acceptor_gain	1.0000
13:24251717:GCCG:G	acceptor_gain	1.0000
13:24251717:GCCGG:G	acceptor_gain	1.0000
13:24251860:ACGGT:A	donor_loss	1.0000
13:24251861:CGG:C	donor_loss	1.0000
13:24251861:CGGT:C	donor_loss	1.0000
13:24251862:GGTG:G	donor_loss	1.0000
13:24251863:G:C	donor_loss	1.0000
13:24251863:G:GG	donor_gain	1.0000
13:24251863:GTG:G	donor_loss	1.0000
13:24251864:T:A	donor_loss	1.0000
13:24284127:T:G	acceptor_gain	1.0000
13:24284133:A:AG	acceptor_gain	1.0000
13:24284134:G:GA	acceptor_gain	1.0000
13:24284134:G:GT	acceptor_gain	1.0000
13:24284134:GT:G	acceptor_gain	1.0000
13:24284134:GTT:G	acceptor_gain	1.0000
13:24284134:GTTT:G	acceptor_gain	1.0000
13:24284269:GAG:G	donor_gain	1.0000
13:24284272:G:GA	donor_loss	1.0000
13:24284273:T:G	donor_loss	1.0000

AlphaMissense

8437 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:24286374:T:C	F196S	1.000
13:24286389:T:A	V201D	1.000
13:24286934:T:C	L259P	1.000
13:24290822:G:C	Q381H	1.000
13:24290822:G:T	Q381H	1.000
13:24290830:G:A	C384Y	1.000
13:24290831:C:G	C384W	1.000
13:24290842:T:C	L388P	1.000
13:24290848:T:C	L390P	1.000
13:24290857:T:C	L393P	1.000
13:24286242:C:A	A152E	0.999
13:24286248:C:A	A154D	0.999
13:24286253:T:A	W156R	0.999
13:24286253:T:C	W156R	0.999
13:24286255:G:C	W156C	0.999
13:24286255:G:T	W156C	0.999
13:24286284:T:C	L166P	0.999
13:24286290:T:C	F168S	0.999
13:24286308:T:A	I174N	0.999
13:24286314:T:A	V176D	0.999
13:24286337:T:A	W184R	0.999
13:24286337:T:C	W184R	0.999
13:24286340:T:A	W185R	0.999
13:24286340:T:C	W185R	0.999
13:24286346:G:C	G187R	0.999
13:24286347:G:A	G187D	0.999
13:24286370:T:A	W195R	0.999
13:24286370:T:C	W195R	0.999
13:24286385:T:C	F200L	0.999
13:24286387:C:A	F200L	0.999

dbSNP variants (sampled 300 via entrez): RS1000006372 (13:23983132 G>A), RS1000016225 (13:24066344 A>AT), RS1000031075 (13:24086679 G>A), RS1000033327 (13:24002930 C>T), RS1000039783 (13:24139241 C>T), RS1000039896 (13:24253236 A>G), RS1000044789 (13:24042838 A>T), RS1000057589 (13:24258535 C>T), RS1000065329 (13:24078292 C>A,T), RS1000069451 (13:24139101 G>A,T), RS1000080987 (13:24294173 G>A), RS1000088259 (13:24201746 C>T), RS1000096645 (13:24043045 G>C), RS1000149421 (13:24218456 G>A,T), RS1000149661 (13:24165184 C>T)

Disease associations

OMIM: gene MIM:613324 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
primary angle-closure glaucoma	Moderate	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary angle-closure glaucoma	Limited	AD

Mondo (1): primary angle-closure glaucoma (MONDO:0001868)

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001313_8	Depression and alcohol dependence	7.000000e-06
GCST001442_7	Orofacial clefts	6.000000e-06
GCST001621_4	Airflow obstruction	8.000000e-07
GCST003988_23	Hypothyroidism	3.000000e-08
GCST004817_1	Tumor necrosis factor receptor II (red blood cell fatty acid level interaction)	3.000000e-08
GCST006223_4	Cerebral cortical growth	7.000000e-06
GCST006899_21	Thyroid stimulating hormone levels	7.000000e-14
GCST006979_1093	Heel bone mineral density	8.000000e-25
GCST007932_67	Medication use (thyroid preparations)	6.000000e-35
GCST010571_58	Autoimmune thyroid disease	2.000000e-23
GCST010653_50	Thyroid stimulating hormone levels	8.000000e-17
GCST90002397_54	Mean spheric corpuscular volume	2.000000e-11
GCST90002400_739	Plateletcrit	1.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0006810	oleic acid measurement
EFO:0009270	heel bone mineral density
EFO:0009933	Thyroid preparation use measurement
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects cotreatment, increases expression	6
Estradiol	affects binding, affects reaction, increases reaction, affects cotreatment, decreases expression (+1 more)	4
Benzo(a)pyrene	affects methylation	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Aflatoxin B1	increases methylation, affects methylation	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	affects methylation	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01266343	Not specified	COMPLETED	Comparison of Anterior Chamber Paracentesis and Conventional Mannitol Infusion in Patients With Primary Acute Angle-closure Glaucoma
NCT01301378	Not specified	TERMINATED	Patch Graft Material Safety and Effectiveness in Covering Glaucoma Drainage Device Tube
NCT02279472	Not specified	UNKNOWN	Optical Coherence Tomography Quantitative Analysis of Changes in Anterior Chamber After Laser Peripheral Lridotomy
NCT03647033	Not specified	COMPLETED	Phacoemulsification Versus Phacoemulsification With Micro-bypass Stent
NCT04254458	Not specified	COMPLETED	Corneal Densitometry in Acute Primary Angle Closure Glaucoma
NCT04609345	Not specified	UNKNOWN	Prevalence of Ocular Surface Disease in Malaysian Glaucoma Patients
NCT04622605	Not specified	COMPLETED	Hydrus Microstent and Lens Extraction for the Treatment of Primary Angle-Closure Glaucoma
NCT04736264	Not specified	UNKNOWN	Malay Glaucoma Eye Study II Navigation, Mobility and Reading Ability in Primary Glaucoma
NCT04972435	Not specified	COMPLETED	Effect of Multifocal Intraocular Lens on Contrast Sensitivity in Primary Angle-Closure Patients
NCT05052242	Not specified	COMPLETED	Evaluation of Ocular Biometry in PACD With Two Swept Source Optical Coherence Tomography Devices
NCT05163951	Not specified	RECRUITING	Trabeculectomy Versus Peripheral Iridectomy Plus Goniotomy in Advanced PACG
NCT06184620	Not specified	COMPLETED	Correlation Between Angle Closure Glaucoma Data and Lens Zonule Status
NCT06252246	Not specified	COMPLETED	The Effect of Phacoemulsification on Intraocular Pressure in Primary Angle Closure Glaucoma (PACG) Patients At Phanat Nikhom Hospital, Chonburi Province
NCT06333470	Not specified	UNKNOWN	Liwan Eye Study: the Fourth Follow-up
NCT06952153	Not specified	RECRUITING	Comparison of Phaco Surgery With Goniosynechialysis Versus Trabeculectomy in Glaucoma Treatment
NCT07495449	Not specified	COMPLETED	Effect of Infusion Warming on Mannitol Infusion Pain in Patients With Acute Ocular Hypertension
NCT07517302	Not specified	RECRUITING	Kahook Dual Blade Goniotomy in Chronic Primary Angle-Closure Glaucoma
NCT07523139	Not specified	RECRUITING	Vitreous Zonule in Primary Angle-Closure Glaucoma
NCT07539675	Not specified	RECRUITING	The Multi-Omics Analysis of Lens Zonule Relaxation in The PACG Pathogenesis
NCT07549438	Not specified	NOT_YET_RECRUITING	Predicting the Risk of Partial Ciliary Block After Cataract and Goniosynechialysis Surgery in Primary Angle-Closure Disease