SRPX

Summary

SRPX (sushi repeat containing protein X-linked, HGNC:11309) is a protein-coding gene on chromosome Xp11.4, encoding Sushi repeat-containing protein SRPX (P78539). May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in phagolysosome assembly. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; and response to endoplasmic reticulum stress. Located in collagen-containing extracellular matrix.

Source: NCBI Gene 8406 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 107 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_006307

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11309
Approved symbol	SRPX
Name	sushi repeat containing protein X-linked
Location	Xp11.4
Locus type	gene with protein product
Status	Approved
Aliases	ETX1, SRPX1
Ensembl gene	ENSG00000101955
Ensembl biotype	protein_coding
OMIM	300187
Entrez	8406

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000378533, ENST00000432886, ENST00000461865, ENST00000479015, ENST00000538295, ENST00000544439, ENST00000898757, ENST00000898758, ENST00000969690, ENST00000969691, ENST00000969692, ENST00000969693, ENST00000969694

RefSeq mRNA: 4 — MANE Select: NM_006307 NM_001170750, NM_001170751, NM_001170752, NM_006307

CCDS: CCDS14245, CCDS55400, CCDS55401, CCDS55402

Canonical transcript exons

ENST00000378533 — 10 exons

Exon	Start	End
ENSE00000668261	38154462	38154583
ENSE00000668265	38160017	38160196
ENSE00000668266	38160933	38161054
ENSE00000668267	38164769	38164895
ENSE00001025750	38178285	38178344
ENSE00001090956	38171881	38172057
ENSE00001090960	38174160	38174351
ENSE00001778736	38220696	38220871
ENSE00001839330	38149339	38149894
ENSE00003601236	38156896	38157029

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 99.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.6792 / max 1972.5291, expressed in 1287 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198893	61.6792	1287

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	99.54	gold quality
peritoneum	UBERON:0002358	98.60	gold quality
omental fat pad	UBERON:0010414	98.60	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.59	gold quality
left uterine tube	UBERON:0001303	98.27	gold quality
adipose tissue	UBERON:0001013	98.05	gold quality
heart right ventricle	UBERON:0002080	97.82	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.82	gold quality
decidua	UBERON:0002450	97.77	gold quality
parietal pleura	UBERON:0002400	97.73	gold quality
tibia	UBERON:0000979	97.69	gold quality
lower lobe of lung	UBERON:0008949	97.52	gold quality
superficial temporal artery	UBERON:0001614	97.22	gold quality
vena cava	UBERON:0004087	97.20	gold quality
connective tissue	UBERON:0002384	97.13	gold quality
left coronary artery	UBERON:0001626	97.11	gold quality
myocardium	UBERON:0002349	97.03	gold quality
mucosa of urinary bladder	UBERON:0001259	97.01	gold quality
cardiac atrium	UBERON:0002081	96.97	gold quality
right atrium auricular region	UBERON:0006631	96.94	gold quality
coronary artery	UBERON:0001621	96.93	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.84	gold quality
cartilage tissue	UBERON:0002418	96.79	gold quality
mammary duct	UBERON:0001765	96.77	gold quality
skin of hip	UBERON:0001554	96.75	gold quality
thoracic mammary gland	UBERON:0005200	96.49	gold quality
gall bladder	UBERON:0002110	96.43	gold quality
mammary gland	UBERON:0001911	96.38	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.37	gold quality
left ventricle myocardium	UBERON:0006566	96.34	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	569.34
E-MTAB-7052	yes	518.33
E-GEOD-135922	yes	425.15
E-MTAB-6701	yes	64.85
E-MTAB-8410	yes	53.95
E-GEOD-134144	yes	38.23
E-HCAD-10	yes	31.52
E-MTAB-10287	yes	23.49
E-HCAD-9	yes	19.35
E-GEOD-81547	yes	8.22
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DEAF1, FOXP2, TWIST1, TWIST2

miRNA regulators (miRDB)

33 targeting SRPX, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-3668	98.52	68.76	951
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-200C-5P	97.71	67.73	596

Literature-anchored findings (GeneRIF, showing 11)

• expression of drs mRNA in well-differentiated, moderately differentiated, and poorly differentiated lung adenocarcinoma tissues (drs; down-regulated by v-scr) (PMID:12152160)
• down-regulation of drs mRNA is closely correlated with carcinomas which arise from adenomatous polyps in the course of the adenoma-carcinoma sequence, but most carcinomas arising de novo are independent of the tumor suppressor function of the drs gene (PMID:12716466)
• Down-regulation of drs mRNA is closely correlated with development of prostate carcinoma, suggesting a tumor-suppressor function of the drs gene in this cancer. (PMID:12874760)
• An apoptosis-inducing protein localized in the endoplasmic reticulum which increases efficiency of apoptosis (PMID:15021917)
• Downregulation of drs tumor suppressor gene in highly malignant human pulmonary neuroendocrine tumors. (PMID:19424611)
• This is the first report demonstrating overexpression of ETX1 in glaucomatous trabecular meshwork. (PMID:19862339)
• PELO is subcellularly localized at the actin cytoskeleton, interacts with HAX1, EIF3G and SRPX proteins and that this interaction occurs at the cytoskeleton; this interaction may facilitate PELO to detect and degrade aberrant mRNAs. (PMID:20406461)
• The SRPX protein contains the P-DUDES structural domain in its C-terminal region. This domain has significant albeit remote sequence similarity to thioredoxin-like domains, and is predicted to possess an oxidoreductase function. (PMID:209648)
• SRPX1 co-accumulated with Abeta deposits in cerebral blood vessels of all autopsied cases with severe cerebral amyloid angiopathy (CAA); no SRPX1 co-accumulated with Abeta deposits in senile plaques. Furthermore, we demonstrated that both Abeta40 and Abeta42 bound to SRPX1 in vitro and enhanced SRPX1 expression in primary cultures of cerebrovascular smooth muscle cells. SRPX1 enhanced caspase activity induced by Abeta40. (PMID:28478503)
• the findings of the present study suggest that targeting the Cancerassociated fibroblasts genes, SRPX and HMCN1, can inhibit ovarian cancer migration and invasion. (PMID:31638245)
• A Hypoxia Molecular Signature-Based Prognostic Model for Endometrial Cancer Patients. (PMID:36675190)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	srpx	ENSDARG00000010318
mus_musculus	Srpx	ENSMUSG00000090084
rattus_norvegicus	Srpx	ENSRNOG00000088892

Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SUSD6 (ENSG00000100647), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CD55 (ENSG00000196352), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)

Protein

Protein identifiers

Sushi repeat-containing protein SRPX — P78539 (reviewed: P78539)

All UniProt accessions (1): P78539

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.

Subcellular location. Cell surface.

Tissue specificity. Detected in fibroblasts (at protein level). Retina and heart; less in placenta, pancreas, lung, liver, skeletal muscle, kidney and brain.

Isoforms (5)

UniProt ID	Names	Canonical?
P78539-1	1	yes
P78539-2	2
P78539-3	3
P78539-4	4
P78539-5	5

RefSeq proteins (4): NP_001164221, NP_001164222, NP_001164223, NP_006298* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR003410	HYR_dom	Domain
IPR025232	DUF4174	Domain
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR043555	SRPX-like	Family

Pfam: PF00084, PF02494, PF13778

UniProt features (25 total): disulfide bond 7, splice variant 4, domain 4, sequence conflict 4, sequence variant 3, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78539-F1	85.37	0.70

Functional residue map

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

Disulfide bonds (7): 120–161, 147–174, 262–304, 290–317, 57–85, 69–103, 89–115

Glycosylation sites (1): 34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (6): phagolysosome assembly (GO:0001845), autophagy (GO:0006914), cell adhesion (GO:0007155), response to endoplasmic reticulum stress (GO:0034976), negative regulation of cell proliferation involved in contact inhibition (GO:0060244), positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)

GO Molecular Function (2): extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (5): autophagosome (GO:0005776), endoplasmic reticulum (GO:0005783), cell surface (GO:0009986), membrane (GO:0016020), extracellular matrix (GO:0031012)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
phagocytosis	1
lysosome organization	1
vesicle organization	1
organelle assembly	1
phagosome maturation	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
cellular process	1
cellular response to stress	1
negative regulation of cell population proliferation	1
contact inhibition	1
extrinsic apoptotic signaling pathway in absence of ligand	1
positive regulation of extrinsic apoptotic signaling pathway	1
regulation of extrinsic apoptotic signaling pathway in absence of ligand	1
structural molecule activity	1
extracellular matrix	1
binding	1
vacuole	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
external encapsulating structure	1

Protein interactions and networks

STRING

752 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SRPX	BRS3	P32247	840
SRPX	LUM	P51884	512
SRPX	CYBB	P04839	511
SRPX	TCF3	P15883	490
SRPX	GPC3	P51654	443
SRPX	TMEM17	Q86X19	441
SRPX	CCDC80	Q76M96	411
SRPX	TPBG	Q13641	407
SRPX	FAT4	Q6V0I7	400
SRPX	ADAMTS4	O75173	389
SRPX	A0A087WTN9	A0A087WTN9	389
SRPX	CXCL14	O95715	350
SRPX	PAMR1	Q6UXH9	322
SRPX	PLAUR	Q03405	320
SRPX	CTSB	P07858	318

IntAct

27 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
PELO	SRPX	psi-mi:“MI:0915”(physical association)	0.650
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
ALG3	SRPX	psi-mi:“MI:0915”(physical association)	0.370
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
SLX4	DDX39A	psi-mi:“MI:0914”(association)	0.350
PLK1	ERCC6L	psi-mi:“MI:0914”(association)	0.350
KCTD13	LAMB4	psi-mi:“MI:0914”(association)	0.350
MAP1LC3A		psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
C1orf54	QSOX1	psi-mi:“MI:0914”(association)	0.350
C1QTNF9B	DNASE2	psi-mi:“MI:0914”(association)	0.350
NTNG1	SRPX2	psi-mi:“MI:0914”(association)	0.350
ATF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CASP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTNNA1	MYO1G	psi-mi:“MI:0914”(association)	0.350
FOS	TMEM223	psi-mi:“MI:0914”(association)	0.350
GATA2	C11orf98	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CDH5	MYO1C	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (11): SRPX (Affinity Capture-MS), SRPX (Two-hybrid), SRPX (Reconstituted Complex), SRPX (Affinity Capture-Western), PELO (Affinity Capture-Western), SRPX (Affinity Capture-MS), SRPX (Proximity Label-MS), SRPX (Affinity Capture-MS), SRPX (Affinity Capture-MS), SRPX (Affinity Capture-MS), SRPX (Affinity Capture-MS)

ESM2 similar proteins: A5D8T8, O35217, O75078, O75882, O75900, O88272, O88507, O88676, O95633, P08887, P0C7M8, P0C7M9, P26992, P78539, Q00961, Q01098, Q08406, Q0ZCA7, Q14957, Q1LZB9, Q2TBM7, Q4V7F2, Q5EA46, Q5VV63, Q63769, Q642A6, Q6A051, Q6IA17, Q6P1D5, Q6PCB0, Q6UXF7, Q71DR4, Q7TNS7, Q7TSQ1, Q8NCF0, Q8R2Z5, Q8R366, Q91XD7, Q96FT7, Q96HD1

Diamond homologs: A0A1D5NSM8, A0JNA2, A2AVA0, A2AX52, D3YXF5, O02839, O19063, O35764, O43405, O70340, O76536, O89029, O95502, O96530, P02741, P02743, P06205, P06206, P06207, P06681, P07202, P07629, P08607, P09871, P0C6B8, P10643, P12246, P13944, P14151, P14847, P15697, P18337, P23680, P32018, P47970, P47971, P47972, P48199, P49254, P49262

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TWIST2	“down-regulates quantity by repression”	SRPX	“transcriptional regulation”
TWIST1	“down-regulates quantity by repression”	SRPX	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	59
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1076887	NC_000023.10:g.(?37545215)(38280335_?)del	Pathogenic
599603	NM_006307.5(SRPX):c.731G>C (p.Arg244Thr)	Likely pathogenic

SpliceAI

2873 predictions. Top by Δscore:

Variant	Effect	Δscore
X:38149891:CAGC:C	acceptor_gain	1.0000
X:38149895:C:CA	acceptor_loss	1.0000
X:38149895:C:CC	acceptor_gain	1.0000
X:38149896:T:A	acceptor_loss	1.0000
X:38149901:C:CT	acceptor_gain	1.0000
X:38154456:CCCTA:C	donor_loss	1.0000
X:38154457:CCTA:C	donor_loss	1.0000
X:38154458:CTACC:C	donor_loss	1.0000
X:38154459:TA:T	donor_loss	1.0000
X:38154461:C:CT	donor_loss	1.0000
X:38154584:C:CC	acceptor_gain	1.0000
X:38160013:CTA:C	donor_loss	1.0000
X:38160015:AC:A	donor_loss	1.0000
X:38161056:T:C	acceptor_gain	1.0000
X:38161056:T:TC	acceptor_gain	1.0000
X:38164764:CTTA:C	donor_gain	1.0000
X:38164765:TTACT:T	donor_loss	1.0000
X:38164766:TACTC:T	donor_loss	1.0000
X:38164767:A:AC	donor_gain	1.0000
X:38164767:ACT:A	donor_gain	1.0000
X:38164768:C:CT	donor_gain	1.0000
X:38164768:CT:C	donor_gain	1.0000
X:38164768:CTC:C	donor_gain	1.0000
X:38164768:CTCA:C	donor_gain	1.0000
X:38164768:CTCAG:C	donor_gain	1.0000
X:38164798:T:TA	donor_gain	1.0000
X:38164891:CATAT:C	acceptor_gain	1.0000
X:38164892:ATAT:A	acceptor_gain	1.0000
X:38164893:TAT:T	acceptor_gain	1.0000
X:38164893:TATC:T	acceptor_loss	1.0000

AlphaMissense

2981 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:38164813:C:A	W203C	1.000
X:38164813:C:G	W203C	1.000
X:38171906:C:A	W167C	1.000
X:38171906:C:G	W167C	1.000
X:38174182:C:A	W109C	1.000
X:38174182:C:G	W109C	1.000
X:38160042:C:A	W310C	0.999
X:38160042:C:G	W310C	0.999
X:38160044:A:G	W310R	0.999
X:38160044:A:T	W310R	0.999
X:38160061:C:G	C304S	0.999
X:38160062:A:T	C304S	0.999
X:38160956:C:G	C251S	0.999
X:38160957:A:G	C251R	0.999
X:38160957:A:T	C251S	0.999
X:38160980:T:A	D243V	0.999
X:38160980:T:G	D243A	0.999
X:38160993:A:C	Y239D	0.999
X:38164793:T:G	D210A	0.999
X:38164815:A:G	W203R	0.999
X:38164815:A:T	W203R	0.999
X:38164871:C:G	C184S	0.999
X:38164872:A:G	C184R	0.999
X:38164872:A:T	C184S	0.999
X:38164883:G:T	P180H	0.999
X:38171886:C:G	C174S	0.999
X:38171887:A:G	C174R	0.999
X:38171887:A:T	C174S	0.999
X:38171908:A:G	W167R	0.999
X:38171908:A:T	W167R	0.999

dbSNP variants (sampled 300 via entrez): RS1000025865 (X:38199222 C>T), RS1000052271 (X:38166621 CTT>C), RS1000107513 (X:38217320 C>T), RS1000128605 (X:38183696 T>C), RS1000221508 (X:38162308 G>A), RS1000254674 (X:38193830 G>C), RS1000275336 (X:38161729 T>C), RS1000318845 (X:38219614 G>T), RS1000352726 (X:38151069 G>C), RS1000375121 (X:38212859 A>G), RS1000501000 (X:38221362 A>G), RS1000529176 (X:38186005 T>C), RS1000540257 (X:38185139 T>C,G), RS1000579637 (X:38150226 C>A,T), RS1000651767 (X:38150578 A>G)

Disease associations

OMIM: gene MIM:300187 | disease phenotypes: MIM:311250, MIM:244400

GenCC curated gene-disease

Mondo (2): ornithine carbamoyltransferase deficiency (MONDO:0010703), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (2): Primary ciliary dyskinesia (Orphanet:244), Ornithine transcarbamylase deficiency (Orphanet:664)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90014033_51	Haemorrhoidal disease	3.000000e-11

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
D020163	Ornithine Carbamoyltransferase Deficiency Disease	C10.228.140.163.100.937.750; C16.320.322.828; C16.320.565.100.940.750; C16.320.565.189.937.750; C18.452.132.100.937.500; C18.452.648.100.940.500; C18.452.648.189.937.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	8
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	4
Estradiol	affects cotreatment, increases expression, decreases expression	4
bisphenol A	affects cotreatment, increases methylation, decreases expression, increases expression	3
trichostatin A	affects cotreatment, increases expression	3
Vorinostat	affects cotreatment, increases expression	3
Cisplatin	affects expression, affects cotreatment, increases expression	3
Progesterone	affects cotreatment, increases expression	3
sodium arsenite	affects methylation, decreases expression	2
cobaltous chloride	decreases expression, increases expression	2
chloropicrin	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Dexamethasone	increases expression, affects cotreatment	2
Cyclosporine	decreases expression, increases expression	2
beta-Naphthoflavone	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
testosterone enanthate	affects expression	1
propionaldehyde	increases expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
butyraldehyde	increases expression	1
pentanal	increases 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	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	increases expression	1
bisphenol AF	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05345171	PHASE3	ACTIVE_NOT_RECRUITING	Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
NCT00718627	PHASE2	COMPLETED	Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
NCT01599286	PHASE2	COMPLETED	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
NCT05526066	PHASE2	TERMINATED	Study for Adolescents and Adults With Ornithine Transcarbamylase Deficiency to Evaluate Safety and Tolerability of ARCT-810
NCT06488313	PHASE2	RECRUITING	A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT04416126	PHASE1	COMPLETED	Safety, Tolerability and Pharmacokinetics of ARCT-810 in Healthy Adult Subjects
NCT04442347	PHASE1	COMPLETED	Phase 1b Study to Assess Safety, Tolerability, and Pharmacokinetics of ARCT-810 in Stable Adult Subjects With Ornithine Transcarbamylase Deficiency
NCT06247670	PHASE1	ACTIVE_NOT_RECRUITING	Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT02991144	PHASE1/PHASE2	COMPLETED	Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
NCT03767270	PHASE1/PHASE2	WITHDRAWN	Safety, Tolerability and PK/PD Evaluation of Intravenous Administration of MRT5201 in Patients With OTC Deficiency
NCT05092685	PHASE1/PHASE2	RECRUITING	Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn
NCT06255782	PHASE1/PHASE2	RECRUITING	An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
NCT00472732	Not specified	COMPLETED	Neurologic Injuries in Adults With Urea Cycle Disorders
NCT01421888	Not specified	TERMINATED	The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
NCT01569568	Not specified	COMPLETED	Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
NCT03636438	Not specified	ACTIVE_NOT_RECRUITING	Long Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04248062	Not specified	COMPLETED	Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
NCT04269122	Not specified	COMPLETED	A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects
NCT04612764	Not specified	ACTIVE_NOT_RECRUITING	Liver Disease in Urea Cycle Disorders
NCT04717453	Not specified	TERMINATED	Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency
NCT04908319	Not specified	RECRUITING	Hepatic Histopathology in Urea Cycle Disorders
NCT04909346	Not specified	TERMINATED	Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT06805695	Not specified	RECRUITING	Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide