STRN4

Summary

STRN4 (striatin 4, HGNC:15721) is a protein-coding gene on chromosome 19q13.32, encoding Striatin-4 (Q9NRL3). Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes.

Enables armadillo repeat domain binding activity; protein phosphatase 2A binding activity; and protein-macromolecule adaptor activity. Involved in negative regulation of hippo signaling. Part of FAR/SIN/STRIPAK complex.

Source: NCBI Gene 29888 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 107 total
• MANE Select transcript: NM_013403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15721
Approved symbol	STRN4
Name	striatin 4
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	ZIN, PPP2R6C
Ensembl gene	ENSG00000090372
Ensembl biotype	protein_coding
OMIM	614767
Entrez	29888

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 9 protein_coding, 7 retained_intron, 5 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

ENST00000263280, ENST00000391910, ENST00000435164, ENST00000539396, ENST00000593979, ENST00000594287, ENST00000594357, ENST00000594581, ENST00000594704, ENST00000594847, ENST00000595357, ENST00000596012, ENST00000596016, ENST00000597021, ENST00000597063, ENST00000598074, ENST00000599231, ENST00000600358, ENST00000600615, ENST00000600710, ENST00000601631, ENST00000601869, ENST00000602223, ENST00000602397

RefSeq mRNA: 2 — MANE Select: NM_013403 NM_001039877, NM_013403

CCDS: CCDS12690, CCDS42581

Canonical transcript exons

ENST00000263280 — 18 exons

Exon	Start	End
ENSE00000714388	46722242	46722340
ENSE00001221267	46746149	46746450
ENSE00001221279	46721986	46722072
ENSE00002985606	46719511	46720338
ENSE00003500259	46736823	46736901
ENSE00003509896	46738164	46738237
ENSE00003526127	46733039	46733236
ENSE00003532372	46723114	46723284
ENSE00003534553	46720536	46720771
ENSE00003538905	46730732	46730873
ENSE00003548457	46722810	46722950
ENSE00003561883	46728618	46728777
ENSE00003609708	46727452	46727546
ENSE00003654301	46724807	46724928
ENSE00003658615	46725473	46725648
ENSE00003667071	46727894	46728007
ENSE00003688301	46725332	46725379
ENSE00003690780	46738785	46738888

Expression profiles

Bgee: expression breadth ubiquitous, 232 present calls, max score 97.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.6630 / max 434.1932, expressed in 1819 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181683	24.8028	1818
181682	0.5704	204
181681	0.5205	192
181673	0.2276	59
181675	0.1873	64
181679	0.1066	56
181680	0.1064	42
181674	0.0604	23
181676	0.0402	11
181678	0.0243	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	97.64	gold quality
right testis	UBERON:0004534	97.55	gold quality
sural nerve	UBERON:0015488	97.43	gold quality
lower esophagus mucosa	UBERON:0035834	96.84	gold quality
cortical plate	UBERON:0005343	96.45	gold quality
ganglionic eminence	UBERON:0004023	96.06	gold quality
stromal cell of endometrium	CL:0002255	95.92	gold quality
lower esophagus	UBERON:0013473	95.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.75	gold quality
ventricular zone	UBERON:0003053	95.70	gold quality
body of uterus	UBERON:0009853	95.58	gold quality
granulocyte	CL:0000094	95.52	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.43	gold quality
metanephros cortex	UBERON:0010533	95.38	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.35	gold quality
apex of heart	UBERON:0002098	95.34	gold quality
monocyte	CL:0000576	95.27	gold quality
nerve	UBERON:0001021	95.25	gold quality
tibial nerve	UBERON:0001323	95.25	gold quality
right frontal lobe	UBERON:0002810	95.19	gold quality
ectocervix	UBERON:0012249	95.19	gold quality
left uterine tube	UBERON:0001303	95.15	gold quality
upper lobe of left lung	UBERON:0008952	95.13	gold quality
right coronary artery	UBERON:0001625	95.06	gold quality
body of stomach	UBERON:0001161	95.05	gold quality
endocervix	UBERON:0000458	94.95	gold quality
testis	UBERON:0000473	94.94	gold quality
right ovary	UBERON:0002118	94.89	gold quality
popliteal artery	UBERON:0002250	94.83	gold quality
tibial artery	UBERON:0007610	94.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting STRN4, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
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-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-3153	99.55	67.59	2337

Literature-anchored findings (GeneRIF, showing 3)

• Results showed that depletion of STRN4 suppresses proliferation, migration, invasion and the anchorage-independent growth of cancer cells. (PMID:25250919)
• MAP4K Interactome Reveals STRN4 as a Key STRIPAK Complex Component in Hippo Pathway Regulation. (PMID:32640226)
• Epigenetic modifications precede molecular alterations and drive human hepatocarcinogenesis. (PMID:34375307)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	strn4	ENSDARG00000102902
mus_musculus	Strn4	ENSMUSG00000030374
rattus_norvegicus	Strn4	ENSRNOG00000016145
drosophila_melanogaster	Cka	FBGN0044323
caenorhabditis_elegans		WBGENE00010631

Paralogs (2): STRN (ENSG00000115808), STRN3 (ENSG00000196792)

Protein

Protein identifiers

Striatin-4 — Q9NRL3 (reviewed: Q9NRL3)

Alternative names: Zinedin

All UniProt accessions (10): Q9NRL3, F5GYK2, M0QXN2, M0QYS2, M0QZM0, M0R0P4, M0R0W8, M0R2A7, M0R317, R4GN16

UniProt curated annotations — full annotation on UniProt →

Function. Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation. Key regulator of the expanded Hippo signaling pathway by interacting and allowing the inhibition of MAP4K kinases by the STRIPAK complex.

Subunit / interactions. Part of the core of STRIPAK complexes composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26. Interacts with CTTNBP2NL.

Subcellular location. Cytoplasm.

Miscellaneous. The name ‘Zinedin’ probably originates from the name of the famous soccer player from Marseille (Zinedine Zidane).

Similarity. Belongs to the WD repeat striatin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NRL3-1	1	yes
Q9NRL3-2	2
Q9NRL3-3	3

RefSeq proteins (2): NP_001034966, NP_037535* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR013258	Striatin_N	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051488	WD_repeat_striatin	Family

Pfam: PF00400, PF08232

UniProt features (29 total): repeat 7, region of interest 6, compositionally biased region 5, splice variant 4, modified residue 3, chain 1, coiled-coil region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRL3-F1	68.59	0.38

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 (3): 53, 206, 276

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 154 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AREB6_01, GOBP_HIPPO_SIGNALING, AAAYRNCTG_UNKNOWN, YY1_Q6, EFC_Q6, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, YY1_02, KMCATNNWGGA_UNKNOWN, TGTGTGA_MIR377, CYTAGCAAY_UNKNOWN, PU1_Q6, POU3F2_02, GCM_NF2, GOCC_NEURON_PROJECTION

GO Biological Process (2): negative regulation of hippo signaling (GO:0035331), regulation of modification of postsynaptic structure (GO:0099159)

GO Molecular Function (7): calmodulin binding (GO:0005516), protein-macromolecule adaptor activity (GO:0030674), protein-containing complex binding (GO:0044877), protein phosphatase 2A binding (GO:0051721), armadillo repeat domain binding (GO:0070016), protein binding (GO:0005515), protein domain specific binding (GO:0019904)

GO Cellular Component (9): cytoplasm (GO:0005737), dendrite (GO:0030425), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), FAR/SIN/STRIPAK complex (GO:0090443), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	3
synapse	3
binding	2
cellular anatomical structure	2
hippo signaling	1
regulation of hippo signaling	1
negative regulation of intracellular signal transduction	1
modification of postsynaptic structure	1
regulation of modification of synaptic structure	1
molecular adaptor activity	1
protein phosphatase binding	1
protein domain specific binding	1
intracellular anatomical structure	1
neuron projection	1
dendritic tree	1
somatodendritic compartment	1
cell body	1
dendrite	1
neuron spine	1
postsynapse	1
protein-containing complex	1
cellular_component	1

Protein interactions and networks

STRING

1094 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STRN4	TNIK	Q9UKE5	857
STRN4	MOB4	Q9Y3A3	842
STRN4	CALM1	P02593	841
STRN4	CALML3	P27482	840
STRN4	CALML5	Q9NZT1	840
STRN4	CALML6	Q8TD86	836
STRN4	CALML4	Q96GE6	836
STRN4	STRIP1	Q5VSL9	834
STRN4	PPP2CA	P05323	830
STRN4	STRIP2	Q9ULQ0	804
STRN4	PPP2R1A	P30153	745
STRN4	PDCD10	Q9BUL8	717
STRN4	STK25	O00506	715
STRN4	MAP4K2	Q12851	700
STRN4	CTTNBP2NL	Q9P2B4	690

IntAct

205 interactions, top by confidence:

A	B	Type	Score
PDCD10	STK25	psi-mi:“MI:0914”(association)	0.980
STRN3	PPP2R1A	psi-mi:“MI:0914”(association)	0.920
STK25	STRN	psi-mi:“MI:0914”(association)	0.900
PIK3CA	PIK3R2	psi-mi:“MI:0914”(association)	0.900
STK24	STK25	psi-mi:“MI:0914”(association)	0.890
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
STRN3	STK25	psi-mi:“MI:0914”(association)	0.880
CTTNBP2NL	STK25	psi-mi:“MI:0914”(association)	0.880
STRN3	STRN	psi-mi:“MI:0914”(association)	0.880
STK24	STRN	psi-mi:“MI:0914”(association)	0.870
STRIP1	PPP2CB	psi-mi:“MI:0914”(association)	0.870
STK26	STRN	psi-mi:“MI:0914”(association)	0.860
PRDM14	CBFA2T2	psi-mi:“MI:0914”(association)	0.860
PPP2CA	STRN	psi-mi:“MI:0914”(association)	0.840
STRIP1	STK25	psi-mi:“MI:0914”(association)	0.840
CTTNBP2NL	STRN	psi-mi:“MI:2364”(proximity)	0.820

BioGRID (250): STRN4 (Affinity Capture-RNA), STRN4 (Affinity Capture-RNA), STRN4 (Affinity Capture-RNA), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS), STRN4 (Affinity Capture-MS)

ESM2 similar proteins: A1L1G1, A2XUN8, B2RYJ8, D3ZAA9, F1MH07, O08764, O95382, P28562, P28563, P47823, P51432, P54760, P58404, P70218, P70268, Q01970, Q0P5E6, Q12851, Q13144, Q13424, Q13425, Q14168, Q28626, Q4ACU6, Q5R8E2, Q5ZLR4, Q61161, Q61234, Q61235, Q63433, Q64623, Q68G30, Q6P9Q4, Q7TQI7, Q7XK25, Q7ZVR8, Q8CHW4, Q8K0G8, Q8N961, Q8R0H9

Diamond homologs: A1C7E4, A1CBP8, A1CUD6, A1DDL6, A1DHW6, A1DP19, A2QCU8, A2R3Z3, A3LNI7, A4RJV3, A5D7H2, A7EKM8, B0XM00, B0XTS1, B2VWG7, B6GZA1, B6Q4Z5, B6QC06, B6QC56, B8M0Q1, B8M7Q5, B8NGT5, C0S902, C1GB49, C5FP68, C5GVJ9, C5JD40, D1ZEM6, D4AM37, D4D8P3, L7N1X6, O43815, O55106, P0DL28, P39014, P58404, P58405, P70483, P87053, Q00659

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CTTNBP2NL	“up-regulates activity”	STRN4	binding
STRN4	“up-regulates activity”	PPP2CA	binding
STRN4	“up-regulates activity”	PPP2CB	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 173 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
RAF activation	5	15.7×	5e-03
Opioid Signalling	5	12.4×	6e-03
Oncogenic MAPK signaling	5	11.6×	7e-03
Degradation of beta-catenin by the destruction complex	5	8.1×	9e-03
Signaling by BRAF and RAF1 fusions	5	8.0×	9e-03
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	7	7.6×	5e-03
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	7	6.3×	9e-03
EML4 and NUDC in mitotic spindle formation	7	6.1×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of hippo signaling	7	31.9×	1e-06
regulation of MAPK cascade	5	14.8×	4e-03
protein autophosphorylation	9	8.5×	6e-04
protein phosphorylation	11	4.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3631 predictions. Top by Δscore:

Variant	Effect	Δscore
19:46720606:A:AC	donor_gain	1.0000
19:46720607:C:CC	donor_gain	1.0000
19:46720687:T:TA	donor_gain	1.0000
19:46720767:ATGGC:A	acceptor_gain	1.0000
19:46720768:TGGC:T	acceptor_gain	1.0000
19:46720769:GGC:G	acceptor_gain	1.0000
19:46720770:GC:G	acceptor_gain	1.0000
19:46720770:GCC:G	acceptor_loss	1.0000
19:46720771:CC:C	acceptor_gain	1.0000
19:46720772:C:CA	acceptor_loss	1.0000
19:46720772:C:CC	acceptor_gain	1.0000
19:46720773:T:C	acceptor_loss	1.0000
19:46720775:C:CT	acceptor_gain	1.0000
19:46720777:CATG:C	acceptor_gain	1.0000
19:46720778:A:AC	acceptor_gain	1.0000
19:46720778:A:C	acceptor_gain	1.0000
19:46720780:G:C	acceptor_gain	1.0000
19:46720780:G:GC	acceptor_gain	1.0000
19:46720784:C:CT	acceptor_gain	1.0000
19:46721980:A:C	donor_gain	1.0000
19:46721981:CTT:C	donor_loss	1.0000
19:46721982:TTA:T	donor_loss	1.0000
19:46721983:TA:T	donor_loss	1.0000
19:46721984:A:AC	donor_gain	1.0000
19:46721984:ACTT:A	donor_gain	1.0000
19:46721985:C:CC	donor_gain	1.0000
19:46721985:C:CG	donor_loss	1.0000
19:46721985:CTT:C	donor_gain	1.0000
19:46721985:CTTC:C	donor_gain	1.0000
19:46722236:CCTCA:C	donor_loss	1.0000

AlphaMissense

4932 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:46720638:A:C	S742R	1.000
19:46720638:A:T	S742R	1.000
19:46720640:T:G	S742R	1.000
19:46720703:G:T	R721S	1.000
19:46720748:A:G	W706R	1.000
19:46720748:A:T	W706R	1.000
19:46720765:T:A	D700V	1.000
19:46721988:C:T	G697E	1.000
19:46722033:A:T	V682D	1.000
19:46725504:A:G	W465R	1.000
19:46725504:A:T	W465R	1.000
19:46727495:A:G	L402S	1.000
19:46733204:A:T	I191N	1.000
19:46733231:A:G	L182P	1.000
19:46733231:A:T	L182Q	1.000
19:46733235:A:C	Y181D	1.000
19:46733235:A:G	Y181H	1.000
19:46736829:A:G	L178P	1.000
19:46736829:A:T	L178H	1.000
19:46738797:A:G	L125P	1.000
19:46738801:C:G	A124P	1.000
19:46738809:A:G	L121P	1.000
19:46738809:A:T	L121Q	1.000
19:46738811:C:A	M120I	1.000
19:46738811:C:G	M120I	1.000
19:46738811:C:T	M120I	1.000
19:46738812:A:C	M120R	1.000
19:46738812:A:G	M120T	1.000
19:46738818:A:C	I118S	1.000
19:46738818:A:G	I118T	1.000

dbSNP variants (sampled 300 via entrez): RS1000125064 (19:46744016 C>T), RS1000213794 (19:46728917 T>G), RS1000256746 (19:46731665 G>A,C), RS1000342533 (19:46726558 G>A), RS1000441670 (19:46733662 G>A), RS1000617164 (19:46725544 C>T), RS1000671208 (19:46727709 G>C,T), RS1000783398 (19:46722461 T>C), RS1000878137 (19:46741835 C>T), RS1000900077 (19:46722633 G>A), RS1000914190 (19:46721105 C>T), RS1000952945 (19:46730040 C>T), RS1001045650 (19:46748238 C>T), RS1001195722 (19:46735907 T>C), RS1001330200 (19:46742050 C>T)

Disease associations

OMIM: gene MIM:614767 | disease phenotypes: MIM:613153, MIM:607155

GenCC curated gene-disease

Mondo (2): muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 (MONDO:0013157), autosomal recessive limb-girdle muscular dystrophy type 2I (MONDO:0011787)

Orphanet (3): Muscle-eye-brain disease (Orphanet:588), Walker-Warburg syndrome (Orphanet:899), FKRP-related limb-girdle muscular dystrophy R9 (Orphanet:34515)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000224_3	Chronic lymphocytic leukemia	4.000000e-09
GCST004146_22	Chronic lymphocytic leukemia	3.000000e-08
GCST006670_2	Primary sclerosing cholangitis	7.000000e-10
GCST90011899_125	Aspartate aminotransferase levels	6.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564612	Muscular Dystrophy, Limb-Girdle, Type 2I (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression, affects expression, increases abundance	2
Ozone	increases abundance, affects cotreatment, decreases expression, affects expression	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
geldanamycin	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
methacrylaldehyde	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
abrine	increases expression	1
Acrolein	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Aspirin	increases expression	1
Benzo(a)pyrene	decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	increases methylation	1
Lactic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05775848	PHASE3	ACTIVE_NOT_RECRUITING	Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)
NCT04800874	PHASE2	ACTIVE_NOT_RECRUITING	Study of BBP-418 in Patients With LGMD2I
NCT02841267	PHASE1/PHASE2	COMPLETED	A Trial of PF-06252616 in Ambulatory Participants With LGMD2I
NCT05230459	PHASE1/PHASE2	RECRUITING	A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
NCT02165358	Not specified	COMPLETED	Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
NCT03842878	Not specified	COMPLETED	Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I
NCT04001595	Not specified	UNKNOWN	Global FKRP Registry
NCT05989620	Not specified	RECRUITING	Long-Term Development of Muscular Dystrophy Outcome Assessments