TSEN2

Summary

TSEN2 (tRNA splicing endonuclease subunit 2, HGNC:28422) is a protein-coding gene on chromosome 3p25.2, encoding tRNA-splicing endonuclease subunit Sen2 (Q8NCE0). Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It is a selective cancer dependency (DepMap: 76.2% of cell lines).

This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 80746 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pontocerebellar hypoplasia type 2B (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 26 (top 5% of genes corpus-wide)
• Clinical variants (ClinVar): 354 total — 9 pathogenic, 16 likely-pathogenic (top 9% of genes corpus-wide)
• GTEx eGene: eQTL in 35 tissues, sQTL in 25 (q < 0.05)
• Phenotypes (HPO): 61
• Cancer dependency (DepMap): dependent in 76.2% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.21 (unconstrained)
• MANE Select transcript: NM_025265

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28422
Approved symbol	TSEN2
Name	tRNA splicing endonuclease subunit 2
Location	3p25.2
Locus type	gene with protein product
Status	Approved
Aliases	SEN2, SEN2L, MGC2776
Ensembl gene	ENSG00000154743
Ensembl biotype	protein_coding
OMIM	608753
Entrez	80746

Gene structure

Transcript identifiers

Ensembl transcripts: 118 — 60 nonsense_mediated_decay, 51 protein_coding, 7 retained_intron

MANE Select: ENST00000284995

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 3, TSL 3: 1, TSL 5: 4

ENST00000284995, ENST00000402228, ENST00000412698, ENST00000415684, ENST00000444864, ENST00000446004, ENST00000454502, ENST00000455118, ENST00000473755, ENST00000475595, ENST00000490981, ENST00000679367, ENST00000679420, ENST00000679424, ENST00000679425, ENST00000679492, ENST00000679537, ENST00000679555, ENST00000679670, ENST00000679690, ENST00000679693, ENST00000679699, ENST00000679756, ENST00000679785, ENST00000679835, ENST00000679876, ENST00000679995, ENST00000680126, ENST00000680172, ENST00000680264, ENST00000680275, ENST00000680354, ENST00000680376, ENST00000680419, ENST00000680421, ENST00000680449, ENST00000680458, ENST00000680555, ENST00000680598, ENST00000680765, ENST00000680817, ENST00000680857, ENST00000680873, ENST00000680923, ENST00000680943, ENST00000680986, ENST00000681042, ENST00000681073, ENST00000681140, ENST00000681227, ENST00000681268, ENST00000681343, ENST00000681433, ENST00000681471, ENST00000681482, ENST00000681676, ENST00000681713, ENST00000877377, ENST00000877378, ENST00000877379, ENST00000877380, ENST00000877381, ENST00000877382, ENST00000877383, ENST00000929195, ENST00000929196, ENST00000929197, ENST00000958146, ENST00000958147, ENST00000988410, ENST00000988411, ENST00000988412, ENST00000988413, ENST00001027460, ENST00001027461, ENST00001027462, ENST00001027463, ENST00001027464, ENST00001027465, ENST00001027466, ENST00001027467, ENST00001027468, ENST00001027469, ENST00001027470, ENST00001027471, ENST00001027472, ENST00001027473, ENST00001027474, ENST00001027475, ENST00001027476, ENST00001027477, ENST00001027478, ENST00001078354, ENST00001078355, ENST00001078356, ENST00001078357, ENST00001078358, ENST00001078359, ENST00001078360, ENST00001078361, ENST00001078362, ENST00001078363, ENST00001078364, ENST00001096492, ENST00001096493, ENST00001096494, ENST00001096495, ENST00001096496, ENST00001109894, ENST00001109895, ENST00001114483, ENST00001114484, ENST00001127234, ENST00001127235, ENST00001127236, ENST00001127237, ENST00001129392, ENST00001129393

RefSeq mRNA: 7 — MANE Select: NM_025265 NM_001145392, NM_001145393, NM_001145394, NM_001321277, NM_001321278, NM_001321279, NM_025265

CCDS: CCDS2611, CCDS46757, CCDS46758, CCDS93216

Canonical transcript exons

ENST00000284995 — 12 exons

Exon	Start	End
ENSE00001017419	12529762	12529873
ENSE00001077532	12505154	12505231
ENSE00003506094	12531570	12531659
ENSE00003510862	12503262	12503784
ENSE00003547473	12516611	12516661
ENSE00003556253	12519059	12519197
ENSE00003561225	12492136	12492217
ENSE00003574621	12496518	12496554
ENSE00003691728	12489784	12489989
ENSE00003789297	12528888	12528924
ENSE00003892827	12484480	12484880
ENSE00003896223	12532662	12533658

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 90.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.3230 / max 78.0778, expressed in 1501 samples.

Highest expression (Bgee): buccal mucosa cell, mucosa of transverse colon, primordial germ cell in gonad, ventricular zone, male germ line stem cell (sensu Vertebrata) in testis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

TSEN2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 35 tissues and its splicing (sQTL) in 25 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 60 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	6.3e-47	+0.69	3:12486101:G:T
Cells EBV-transformed lymphocytes	eqtl	1.4e-37	+1.04	3:12484507:G:A
Skin Sun Exposed Lower leg	eqtl	3.6e-21	-0.26	3:12535896:G:C
Skin Not Sun Exposed Suprapubic	eqtl	4.9e-20	-0.29	3:12538445:G:T
Artery Tibial	eqtl	3.2e-17	-0.33	3:12497220:T:C
Nerve Tibial	sqtl	3.5e-17	+2.42	3:12514889:A:T
Skin Not Sun Exposed Suprapubic	sqtl	1.8e-16	+2.65	3:12491765:T:C
Thyroid	sqtl	4.2e-16	+2.48	3:12532673:G:A
Skin Sun Exposed Lower leg	sqtl	1.1e-15	-0.45	3:12538747:G:C
Brain Cerebellum	eqtl	2.8e-13	-0.55	3:12533398:A:G
Esophagus Mucosa	eqtl	3.1e-13	+0.48	3:12525069:A:G
Colon Transverse	sqtl	6.3e-13	+2.20	3:12477255:A:T
Artery Tibial	sqtl	2.2e-12	+2.23	3:12532673:G:A
Muscle Skeletal	sqtl	1.2e-11	-0.35	3:12538747:G:C
Testis	sqtl	1.4e-11	-0.61	3:12569233:T:C
Muscle Skeletal	eqtl	3.6e-11	-0.20	3:12531205:A:ACAATT
Nerve Tibial	eqtl	1.1e-10	-0.20	3:12531205:A:ACAATT
Lung	sqtl	3.7e-09	+1.92	3:12661514:C:A
Esophagus Gastroesophageal Junction	eqtl	1.1e-08	-0.30	3:12531205:A:ACAATT
Colon Sigmoid	eqtl	2.6e-08	-0.25	3:12484903:G:C

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
35381	3.8652	1455
202680	0.4577	277

Top tissues by expression

showing 100 of 270 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	90.77	gold quality
mucosa of transverse colon	UBERON:0004991	89.30	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.16	gold quality
ventricular zone	UBERON:0003053	86.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.02	gold quality
gastrocnemius	UBERON:0001388	85.97	gold quality
body of pancreas	UBERON:0001150	85.95	gold quality
cerebellar hemisphere	UBERON:0002245	85.83	gold quality
cerebellar cortex	UBERON:0002129	85.72	gold quality
right uterine tube	UBERON:0001302	85.53	gold quality
muscle of leg	UBERON:0001383	85.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.41	gold quality
right ovary	UBERON:0002118	85.37	gold quality
tibial nerve	UBERON:0001323	85.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.35	gold quality
left ovary	UBERON:0002119	85.34	gold quality
transverse colon	UBERON:0001157	85.31	gold quality
cortical plate	UBERON:0005343	84.94	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.47	gold quality
left uterine tube	UBERON:0001303	84.36	gold quality
cerebellum	UBERON:0002037	84.29	gold quality
body of uterus	UBERON:0009853	84.15	gold quality
metanephros cortex	UBERON:0010533	83.84	gold quality
right atrium auricular region	UBERON:0006631	83.75	gold quality
body of stomach	UBERON:0001161	83.61	gold quality
ectocervix	UBERON:0012249	83.58	gold quality
adenohypophysis	UBERON:0002196	83.57	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.46	gold quality
ganglionic eminence	UBERON:0004023	83.36	gold quality
sural nerve	UBERON:0015488	83.32	gold quality
apex of heart	UBERON:0002098	83.28	gold quality
left adrenal gland cortex	UBERON:0035825	83.27	gold quality
ovary	UBERON:0000992	83.22	gold quality
endocervix	UBERON:0000458	83.14	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	83.14	gold quality
heart left ventricle	UBERON:0002084	83.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	82.99	gold quality
lower esophagus	UBERON:0013473	82.98	gold quality
right adrenal gland	UBERON:0001233	82.96	gold quality
nucleus accumbens	UBERON:0001882	82.84	gold quality
left adrenal gland	UBERON:0001234	82.75	gold quality
right lobe of thyroid gland	UBERON:0001119	82.71	gold quality
colonic epithelium	UBERON:0000397	82.62	gold quality
calcaneal tendon	UBERON:0003701	82.61	gold quality
left lobe of thyroid gland	UBERON:0001120	82.42	gold quality
caudate nucleus	UBERON:0001873	82.40	gold quality
omental fat pad	UBERON:0010414	82.39	gold quality
peritoneum	UBERON:0002358	82.35	gold quality
mucosa of stomach	UBERON:0001199	82.25	gold quality
cardiac ventricle	UBERON:0002082	82.22	gold quality
stomach	UBERON:0000945	82.21	gold quality
right adrenal gland cortex	UBERON:0035827	82.01	gold quality
pituitary gland	UBERON:0000007	81.96	gold quality
rectum	UBERON:0001052	81.93	gold quality
pancreas	UBERON:0001264	81.91	gold quality
skin of abdomen	UBERON:0001416	81.91	gold quality
esophagus	UBERON:0001043	81.86	gold quality
right frontal lobe	UBERON:0002810	81.79	gold quality
thyroid gland	UBERON:0002046	81.75	gold quality
adrenal gland	UBERON:0002369	81.70	gold quality
anterior cingulate cortex	UBERON:0009835	81.68	gold quality
cingulate cortex	UBERON:0003027	81.57	gold quality
putamen	UBERON:0001874	81.54	gold quality
subcutaneous adipose tissue	UBERON:0002190	81.53	gold quality
colon	UBERON:0001155	81.50	gold quality
right lobe of liver	UBERON:0001114	81.48	gold quality
adipose tissue of abdominal region	UBERON:0007808	81.47	gold quality
adrenal cortex	UBERON:0001235	81.46	gold quality
skin of leg	UBERON:0001511	81.45	gold quality
left coronary artery	UBERON:0001626	81.42	gold quality
cardiac atrium	UBERON:0002081	81.15	gold quality
large intestine	UBERON:0000059	81.12	gold quality
esophagus mucosa	UBERON:0002469	81.12	gold quality
heart	UBERON:0000948	81.07	gold quality
vagina	UBERON:0000996	81.07	gold quality
spinal cord	UBERON:0002240	80.81	gold quality
adrenal tissue	UBERON:0018303	80.79	gold quality
lower esophagus mucosa	UBERON:0035834	80.65	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.59	gold quality
intestine	UBERON:0000160	80.47	gold quality
prefrontal cortex	UBERON:0000451	80.45	gold quality
right coronary artery	UBERON:0001625	80.40	gold quality
popliteal artery	UBERON:0002250	80.39	gold quality
tibial artery	UBERON:0007610	80.37	gold quality
minor salivary gland	UBERON:0001830	80.22	gold quality
coronary artery	UBERON:0001621	80.20	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.19	gold quality
aorta	UBERON:0000947	79.97	gold quality
upper lobe of left lung	UBERON:0008952	79.89	gold quality
amygdala	UBERON:0001876	79.85	gold quality
stromal cell of endometrium	CL:0002255	79.84	gold quality
ascending aorta	UBERON:0001496	79.68	gold quality
thoracic aorta	UBERON:0001515	79.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.49	gold quality
hypothalamus	UBERON:0001898	79.31	gold quality
upper lobe of lung	UBERON:0008948	79.20	gold quality
right testis	UBERON:0004534	78.93	gold quality
zone of skin	UBERON:0000014	78.79	gold quality
skeletal muscle organ	UBERON:0014892	78.74	gold quality
muscle organ	UBERON:0001630	78.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.98

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Frontal cortex	tissue	12.5
Caudate putamen	tissue	11.2
Cerebellum	tissue	6.1	medium
Hippocampal formation	tissue	5.7
Cerebral cortex	tissue	5.3	medium
Insular cortex	tissue	5.3
Prefrontal cortex	tissue	5.2
Amygdala	tissue	5.2
Retrosplenial and cingulate cortex	tissue	5.2
Retrosplenial cortex	tissue	5.2
Motor cortex	tissue	5.1
Temporal cortex	tissue	5.0
Hypothalamus	tissue	4.8
Entorhinal cortex	tissue	4.8
Septum	tissue	4.8
Pons	tissue	4.6
Thalamus	tissue	4.6
Olfactory bulb	tissue	4.6
Occipital cortex	tissue	4.5
Ventral forebrain	tissue	4.4
Midbrain	tissue	4.3
Periaqueductal gray	tissue	4.3
Somatosensory cortex	tissue	4.3
Superior colliculi	tissue	4.2
Medulla oblongata	tissue	4.1
Substantia nigra	tissue	4.1
Putamen	tissue	4.0
Heart muscle	tissue	3.8	low
Basal ganglia	tissue	3.8	not detected
Spinal cord	tissue	3.8
Ovary	tissue	3.6	not detected
Tongue	tissue	3.5
Nucleus accumbens	tissue	3.5
Postcentral gyrus	tissue	3.5
Corpus callosum	tissue	3.4
Adrenal gland	tissue	3.3	medium
Choroid plexus	tissue	3.2
Retina	tissue	3.0
Seminal vesicle	tissue	3.0	low
Parathyroid gland	tissue	3.0	medium
Thyroid gland	tissue	3.0	low
Fallopian tube	tissue	3.0	low
Smooth muscle	tissue	2.9	not detected
Pituitary gland	tissue	2.7
Endometrium 1	tissue	2.6	not detected
Breast	tissue	2.4	low
Locus coeruleus	tissue	2.4
Thymus	tissue	2.4
Testis	tissue	2.3	high
Urinary bladder	tissue	2.3	low
Epididymis	tissue	2.3	low
Kidney	tissue	2.3	low
Hippocampus	tissue	2.2	medium
Lymph node	tissue	2.1	not detected
Rectum	tissue	2.1	medium
Prostate	tissue	2.1	low
Vagina	tissue	2.0	medium
Esophagus	tissue	2.0	medium
Colon	tissue	2.0	low
Tonsil	tissue	2.0	medium

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Ventral hippocampus (5.7), Dorsal hippocampus (5.6), Subiculum (5.5), Vermis (4.3), Cerebellar cortex (4.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting TSEN2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

26 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-4687-5P	99.14	66.26	488
HSA-MIR-6780B-3P	99.13	67.18	622
HSA-MIR-143-5P	98.98	68.87	946
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-4511	98.32	67.97	1500
HSA-MIR-6511A-3P	97.60	66.61	713
HSA-MIR-6511B-3P	97.60	66.61	713
HSA-MIR-5192	96.89	63.35	879
HSA-MIR-6834-5P	96.25	64.88	823
HSA-MIR-4315	94.78	64.86	112

Functional genomics

gnomAD constraint: pLI 7.67e-17, LOEUF 1.21, missense Z -0.37 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000284995 — one region, missense o/e 1.10. ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 76.2% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): NCI-H1694 (-1.437), 769-P (-1.405), SK-N-FI (-1.347), RT-112 (-1.323), SK-N-AS (-1.294), EFE-184 (-1.247), JHH-4 (-1.147), MHH-ES-1 (-1.146), COR-L105 (-1.127), EFO-21 (-1.116), NCI-H2171 (-1.099), NCI-H841 (-1.09), SLR 23 (-1.089), RD-ES (-1.077), OVISE (-1.07).

Literature-anchored findings (GeneRIF, showing 1)

• A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. (PMID:34964109)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tsen2	ENSDARG00000091851
mus_musculus	Tsen2	ENSMUSG00000042389
rattus_norvegicus	Tsen2	ENSRNOG00000060175
drosophila_melanogaster	Tsen2	FBGN0051812
caenorhabditis_elegans		WBGENE00013231

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pyrobaculum arsenaticum DSM 13514	A4WLV3	83.1%	Diamond
Arabidopsis thaliana	Q9LSS3	75.2%	Diamond
Sulfurisphaera tokodaii str. 7	Q975R3	65.7%	Diamond
Methanocaldococcus jannaschii DSM 2661	Q58819	60.9%	Diamond
Hyperthermus butylicus DSM 5456	A2BIW2	55.4%	Diamond
Aeropyrum pernix K1	Q9YBF1	55.4%	Diamond
Gallus gallus	Q5ZIN2	53.6%	Diamond
Saccharomyces cerevisiae S288C	P16658	50.9%	Diamond
Eremothecium gossypii ATCC 10895	Q74ZY5	48.9%	Diamond
Oryza sativa Japonica Group	Q5Z6B1	45.9%	Diamond
Neurospora crassa OR74A	Q9P6Y2	42.9%	Diamond
Schizosaccharomyces pombe 972h-	Q8TFH7	34.9%	Diamond

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
MKRN2	protein-coding	23609
RAF1	protein-coding	5894
PPARG	protein-coding	5468
SYN2	protein-coding	6854
TIMP4	protein-coding	7079
MKRN2OS	protein-coding	100129480
TMEM40	protein-coding	55287

Protein

Protein identifiers

tRNA-splicing endonuclease subunit Sen2 — Q8NCE0 (reviewed: Q8NCE0)

Alternative names: tRNA-intron endonuclease Sen2

All UniProt accessions (20): A0A7P0T841, A0A7P0T8F8, A0A7P0T8I7, A0A7P0T8K4, A0A7P0T8S9, A0A7P0T8W9, A0A7P0T8Z6, A0A7P0T914, A0A7P0T923, A0A7P0T974, A0A7P0T9K6, A0A7P0T9Y6, A0A7P0TA86, A0A7P0TBE6, A0A7P0Z492, Q8NCE0, A0A7P0Z4J6, C9J7Z4, H7C2Z3, H7C301

UniProt curated annotations — full annotation on UniProt →

Function. Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5’- and 3’-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2’,3’-cyclic phosphate and 5’-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. Isoform 1 probably carries the active site for 5’-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3’-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3’-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. Isoform 2 is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity.

Subunit / interactions. tRNA splicing endonuclease is a heterotetramer composed of isoform 1 of TSEN2, TSEN15, TSEN34/LENG5 and TSEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3’-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2. Isoform 2 belongs to a different complex that contains TSEN54 but low level of TSEN15 and TSEN34/LENG5.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Isoform 1 and isoform 2 are widely expressed at very low level.

Disease relevance. Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389] A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the tRNA-intron endonuclease family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8NCE0-1	1	yes
Q8NCE0-2	2, SEN2deltaEx8, DeltaEx8
Q8NCE0-3	3
Q8NCE0-4	4
Q8NCE0-5	5

RefSeq proteins (7): NP_001138864, NP_001138865, NP_001138866, NP_001308206, NP_001308207, NP_001308208, NP_079541* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006676	tRNA_splic	Family
IPR006677	tRNA_intron_Endonuc_cat-like	Domain
IPR006678	tRNA_intron_Endonuc_N	Domain
IPR011856	tRNA_endonuc-like_dom_sf	Homologous_superfamily
IPR016589	tRNA_splic_SEN2	Family
IPR036167	tRNA_intron_Endo_cat-like_sf	Homologous_superfamily

Pfam: PF01974, PF02778

Enzyme classification (BRENDA)

• EC 4.6.1.16 — tRNA-intron lyase (BRENDA: 22 organisms, 86 substrates, 10 inhibitors, 1 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
PRETRNA	0.0003	1

UniProt features (50 total): strand 15, helix 12, splice variant 5, turn 5, sequence variant 3, active site 3, modified residue 3, sequence conflict 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

5 structures by resolution:

PDB	Title	Method	Resolution (Å)
8HMZ	Cryo-EM structure of the human post-catalytic TSEN/pre-tRNA complex	ELECTRON MICROSCOPY	2.9
8HMY	Cryo-EM structure of the human pre-catalytic TSEN/pre-tRNA complex	ELECTRON MICROSCOPY	2.94
7ZRZ	Structure of the human tRNA splicing endonuclease defines substrate recognition	ELECTRON MICROSCOPY	3.09
8ISS	Cryo-EM structure of wild-type human tRNA Splicing Endonuclease Complex bound to …	ELECTRON MICROSCOPY	3.19
7UXA	Human tRNA Splicing Endonuclease Complex bound to pre-tRNA-ARG	ELECTRON MICROSCOPY	3.28

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCE0-F1	73.63	0.55

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Lyases, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital malformations, Congenital malformations of the nervous system, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; centrosome; cytosol

Antibody reliability (HPA): IH approved · IF supported

Functional residue map

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

Catalytic / active sites (3)

Position	Role
369
377
416

Post-translational modifications (3)

Type	Positions
Phosphoserine	408, 411, 415

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-6784531	tRNA processing in the nucleus	curated
R-HSA-8953854	Metabolism of RNA	—
R-HSA-72306	tRNA processing	—

MSigDB gene sets: 248 (showing top): GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, GOMF_NUCLEASE_ACTIVITY, GOBP_TRNA_METABOLIC_PROCESS, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOBP_RNA_SPLICING_VIA_ENDONUCLEOLYTIC_CLEAVAGE_AND_LIGATION, GOBP_RNA_SPLICING, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_DN, AP2_Q6_01, GOBP_TRNA_PROCESSING, REACTOME_METABOLISM_OF_RNA, GOCC_NUCLEOLUS, MANALO_HYPOXIA_DN

GO Biological Process (4): tRNA-type intron splice site recognition and cleavage (GO:0000379), tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388), mRNA processing (GO:0006397), tRNA processing (GO:0008033)

GO Molecular Function (4): tRNA-intron lyase activity (GO:0000213), nucleic acid binding (GO:0003676), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (5): tRNA-intron endonuclease complex (GO:0000214), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), nucleus (GO:0005634)

Reactome top-level categories

2 top-level categories:

Category	Pathways
tRNA processing	1
Metabolism of RNA	1

GO top-level categories

18 GO namespaces:

Category	Terms
RNA processing	3
binding	2
nuclear lumen	2
cellular anatomical structure	2
tRNA splicing, via endonucleolytic cleavage and ligation	1
RNA splicing, via endonucleolytic cleavage and ligation	1
tRNA processing	1
mRNA metabolic process	1
tRNA metabolic process	1
RNA endonuclease activity	1
tRNA-specific ribonuclease activity	1
phosphorus-oxygen lyase activity	1
catalytic activity	1
nuclear protein-containing complex	1
endoribonuclease complex	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 13 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
tRNA splicing, via endonucleolytic cleavage and ligation	BP	direct assay
tRNA-type intron splice site recognition and cleavage	BP	direct assay
nucleoplasm	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 770 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TSEN2	TSEN54	Q7Z6J9	998
TSEN2	TSEN34	Q9BSV6	998
TSEN2	TSEN15	Q8WW01	996
TSEN2	CPSF6	Q16630	828
TSEN2	RARS2	Q5T160	732
TSEN2	SETX	Q7Z333	676
TSEN2	SEPSECS	Q9HD40	667
TSEN2	EXOSC3	Q9NQT5	574
TSEN2	ST7	Q9NRC1	539
TSEN2	PCF11	O94913	521
TSEN2	TRPT1	Q86TN4	500
TSEN2	TOE1	Q96GM8	498
TSEN2	VRK1	Q99986	492
TSEN2	DCP1B	Q8IZD4	485
TSEN2	VPS53	Q5VIR6	475

IntAct

Human interaction partners of TSEN2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

7 partners by confidence:

Partner	Interaction type	MIscore	Records
TSEN54	physical association	0.830	13
CADPS	physical association	0.560	3
CTAG2	physical association	0.560	3
GABPB2	physical association	0.560	3
TAX1BP1	physical association	0.560	3
TEPSIN	physical association	0.560	3
TMED8	association	0.350	2

BioGRID (80 interactions; top human partners by supporting records): TSEN54 (Two-hybrid; 6 records), TSEN15 (Affinity Capture-MS; 5 records), CLP1 (Affinity Capture-MS; 4 records), TSEN34 (Affinity Capture-MS; 4 records), RTBDN (Affinity Capture-MS; 3 records), GREB1L (Affinity Capture-MS; 2 records), PARK2 (Affinity Capture-MS; 2 records), THUMPD3 (Affinity Capture-MS; 2 records), TMED8 (Affinity Capture-MS; 2 records), TUBB2B (Affinity Capture-MS; 2 records), ZNRF1 (Affinity Capture-MS; 2 records), ACACA (Positive Genetic), ADAM7 (Affinity Capture-MS), AKT3 (Affinity Capture-MS), ARL11 (Affinity Capture-MS)

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
tRNA splicing endonuclease	5	CLP1, TSEN15, TSEN2, TSEN34, TSEN54

Disease & clinical

Genetic variants

Variant evidence for TSEN2: 354 ClinVar records (25 pathogenic / likely pathogenic); 26 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	16
Uncertain significance	152
Likely benign	92
Benign	49

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 25 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
3658805	NM_025265.4(TSEN2):c.917del (p.Phe306fs)	Pathogenic	criteria provided, multiple submitters, no conflicts	2
495253	NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	4
180669	NM_025265.4(TSEN2):c.960+1_960+5del	Likely pathogenic	criteria provided, multiple submitters, no conflicts	3
1428757	NM_025265.4(TSEN2):c.1099+1G>A	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
1031439	NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs)	Pathogenic	criteria provided, single submitter	1
2228672	NM_025265.4(TSEN2):c.215C>A (p.Ser72Ter)	Pathogenic	criteria provided, single submitter	1
3692161	NM_025265.4(TSEN2):c.1016del (p.Phe339fs)	Pathogenic	criteria provided, single submitter	1
4803181	NM_025265.4(TSEN2):c.583G>T (p.Glu195Ter)	Pathogenic	criteria provided, single submitter	1
4811769	NM_025265.4(TSEN2):c.790del (p.Glu264fs)	Pathogenic	criteria provided, single submitter	1
4855205	NM_025265.4(TSEN2):c.631C>T (p.Arg211Ter)	Pathogenic	criteria provided, single submitter	1
2683805	NM_025265.4(TSEN2):c.1100-5T>A	Likely pathogenic	criteria provided, single submitter	2
212442	NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg)	Likely pathogenic	criteria provided, single submitter	1
212443	NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del)	Likely pathogenic	criteria provided, single submitter	1
495252	NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys)	Likely pathogenic	criteria provided, single submitter	1
632396	NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore TSEN2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 18 predictions of 1,395):

Position(s)	Effect	Δscore	Sites
3:12489782	acceptor_gain	1.0000
3:12489987	donor_gain	1.0000
3:12489990–12489991	donor_loss	1.0000	6
3:12489994	donor_loss	1.0000
3:12492130	acceptor_gain	1.0000
3:12496555–12496556	donor_loss	1.0000	4
3:12519048	acceptor_gain	1.0000
3:12489761	acceptor_gain	0.9900
3:12489765	acceptor_gain	0.9900
3:12489768	acceptor_gain	0.9900

AlphaMissense

811 missense substitutions predicted likely pathogenic (of 3,066 scored), across 202 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
H377	8	0.984	0.996
F339	8	0.948	0.991
F375	8	0.936	0.994
F66	8	0.935	0.990
D365	8	0.907	0.981
F6	8	0.902	0.981
F305	8	0.900	0.984
F332	8	0.883	0.972
H347	8	0.849	0.974
W354	7	0.985	0.998
W453	7	0.985	0.997
E303	7	0.973	0.986
W329	7	0.973	0.995
F306	7	0.967	0.989
W401	7	0.959	0.995
F349	7	0.955	0.986
K416	7	0.950	0.998
E447	7	0.894	0.945
E295	7	0.893	0.959
E302	7	0.861	0.954

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Rectum Adenocarcinoma (TCGA)	favorable	0.000653

Disease associations

OMIM: gene MIM:608753 | disease phenotypes: MIM:612389, MIM:607596

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
pontocerebellar hypoplasia type 2B	Strong	Autosomal recessive	3
pontocerebellar hypoplasia type 2	Supportive	Autosomal recessive

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (14 panels, 11 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

14 panels:

Panel	Rating
Adult-onset neurological disorders	green
Ataxia and cerebellar anomalies - childhood onset	green
Cerebellar hypoplasia	green
DDG2P	green
Fetal anomalies	green
Hereditary ataxia	green
Hereditary ataxia and cerebellar anomalies, childhood onset	green
Hereditary ataxia, adult onset	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Early onset or syndromic epilepsy	amber
Paediatric disorders	amber
Unexplained death in infancy and sudden unexplained death in childhood	amber

Mondo (4): pontocerebellar hypoplasia type 2B (MONDO:0012890), pontocerebellar hypoplasia (MONDO:0020135), hemolytic-uremic syndrome (MONDO:0001549), pontocerebellar hypoplasia type 2 (MONDO:0016759)

Orphanet (3): Pontocerebellar hypoplasia type 2 (Orphanet:2524), Non-syndromic pontocerebellar hypoplasia (Orphanet:98523), Hemolytic uremic syndrome (Orphanet:544458)

HPO phenotypes

showing 60 of 61 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000340	Sloping forehead
HP:0000505	Visual impairment
HP:0000954	Single transverse palmar crease
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001266	Choreoathetosis
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001320	Cerebellar vermis hypoplasia
HP:0001321	Cerebellar hypoplasia
HP:0001332	Dystonia
HP:0001522	Death in infancy
HP:0001561	Polyhydramnios
HP:0001999	Abnormal facial shape
HP:0002015	Dysphagia
HP:0002020	Gastroesophageal reflux
HP:0002033	Poor suck
HP:0002059	Cerebral atrophy
HP:0002072	Chorea
HP:0002079	Hypoplasia of the corpus callosum
HP:0002104	Apnea
HP:0002119	Ventriculomegaly
HP:0002123	Generalized myoclonic seizure
HP:0002169	Clonus
HP:0002179	Opisthotonus
HP:0002268	Paroxysmal dystonia
HP:0002350	Cerebellar cyst
HP:0002360	Sleep disturbance
HP:0002365	Hypoplasia of the brainstem
HP:0002509	Limb hypertonia
HP:0002536	Abnormal cortical gyration
HP:0002719	Recurrent infections
HP:0003487	Babinski sign
HP:0003558	Viral infection-induced rhabdomyolysis
HP:0003577	Congenital onset
HP:0003819	Death in childhood
HP:0006850	Hypoplasia of the ventral pons
HP:0006895	Lower limb hypertonia
HP:0006989	Dysplastic corpus callosum
HP:0007308	Extrapyramidal dyskinesia
HP:0007598	Bilateral single transverse palmar creases
HP:0007663	Reduced visual acuity
HP:0008936	Axial hypotonia
HP:0009879	Simplified gyral pattern
HP:0011171	Simple febrile seizure
HP:0011344	Severe global developmental delay
HP:0011471	Gastrostomy tube feeding in infancy
HP:0011968	Feeding difficulties
HP:0012469	Infantile spasms
HP:0012765	Widened cerebellar subarachnoid space
HP:0025190	Bilateral tonic-clonic seizure with generalized onset
HP:0031162	Impaired oropharyngeal swallow response
HP:0032792	Tonic seizure
HP:0032794	Myoclonic seizure
HP:0100704	Cerebral visual impairment
HP:0200049	Upper limb hypertonia

GWAS associations

26 associations:

Study	Trait	p-value
GCST90020027_1293	Waist-hip index	1e-24
GCST90020025_1677	Waist-to-hip ratio adjusted for BMI	6e-24
GCST90020026_615	Hip index	1e-15
GCST90020027_1107	Waist-hip index	3e-15
GCST90020025_1691	Waist-to-hip ratio adjusted for BMI	2e-14
GCST90020026_621	Hip index	5e-14
GCST90020027_1302	Waist-hip index	1e-13
GCST90020025_1686	Waist-to-hip ratio adjusted for BMI	2e-13
GCST90020029_926	Waist circumference adjusted for body mass index	4e-13
GCST90020026_625	Hip index	2e-12
GCST90020027_1297	Waist-hip index	1e-11
GCST90020024_145	A body shape index	2e-11
GCST90020027_1106	Waist-hip index	2e-11
GCST90020025_1681	Waist-to-hip ratio adjusted for BMI	4e-11
GCST90020028_869	Hip circumference adjusted for BMI	4e-11
GCST90020025_1690	Waist-to-hip ratio adjusted for BMI	2e-10
GCST005962_54	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	9e-9
GCST90020028_873	Hip circumference adjusted for BMI	9e-9
GCST90020028_874	Hip circumference adjusted for BMI	1e-8
GCST90020025_1693	Waist-to-hip ratio adjusted for BMI	4e-8
GCST90020029_929	Waist circumference adjusted for body mass index	4e-8
GCST90020027_1109	Waist-hip index	5e-8
GCST005956_65	Waist-to-hip ratio adjusted for BMI	1e-7
GCST005958_3	Waist-to-hip ratio adjusted for BMI (age >50)	2e-6
GCST005752_138	Systemic lupus erythematosus	9e-6
GCST005957_13	Waist-to-hip ratio adjusted for BMI (age <50)	9e-6

EFO canonical traits (from GWAS)

5 canonical traits:

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors

4 disease descriptors:

Descriptor	Name	Tree numbers
D006463	Hemolytic-Uremic Syndrome	C12.050.351.968.419.936.463; C12.200.777.419.936.463; C12.950.419.936.463; C15.378.050.141.610; C15.378.140.855.925.500; C15.378.243.937.925.500
C580383	Pontocerebellar Hypoplasia *(supp.)*
C548070	Pontocerebellar Hypoplasia Type 2 *(supp.)*
C567325	Pontocerebellar Hypoplasia Type 2B *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment, increases methylation	2
Benzo(a)pyrene	affects methylation	2
Estradiol	increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
avobenzone	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
monomethylarsonous acid	increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Irinotecan	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Floxacillin	affects binding	1

Clinical trials (associated diseases)

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

19 trials:

NCT	Phase	Status	Title
NCT03776851	Phase 4	COMPLETED	Erythropoietin in Hemolytic Uremic Syndrome
NCT00004465	Phase 3	TERMINATED	Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic Syndrome
NCT01433003	Phase 3	WITHDRAWN	The Plasma Large-Volume Exchange RCT
NCT06389474	Phase 3	RECRUITING	Efficacy of INM004 in Children With STEC-HUS
NCT00531089	Phase 2	UNKNOWN	Rituximab in Patients With Relapsed or Refractory TTP-HUS
NCT05569746	Phase 2	COMPLETED	A Study to Assess Safety, Efficacy, and Pharmacokinetics of INM004 in Pediatric Patients With STEC-HUS
NCT03275792	Phase 1	WITHDRAWN	Shiga Toxin Producing Escherichia Coli (STEC) Volume Expansion
NCT04132375	Phase 2/3	TERMINATED	Phase 2/3 Study to Evaluate PK, Safety & Efficacy of INM004 in STEC Positive Pediatric Patients for Prevention of HUS
NCT00358306	Not specified	COMPLETED	The Role of Endothelium Dysfunction in Progression of CKD (Chronic Kidney Disease) After AKI (Acute Kidney Injury)
NCT00593229	Not specified	TERMINATED	International Registry and Biorepository for TMA(Thrombotic Microangiopathy)
NCT01406288	Not specified	COMPLETED	Outbreak of Hemolytic Uremic Syndrome Linked to Escherichia Coli of Serotype O104:H4
NCT01561248	Not specified	COMPLETED	Study of Repetitive Intestinal Lavage in Patients With EHEC Associated Hemorrhagic Colitis
NCT01666548	Not specified	COMPLETED	Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects
NCT02904863	Not specified	COMPLETED	Study of ‘Vascular Competence’ Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults
NCT03580941	Not specified	UNKNOWN	Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy
NCT04745195	Not specified	RECRUITING	Complement Prospective Evaluation of Thrombotic Microangiopathy on Endothelium
NCT05219110	Not specified	RECRUITING	Hyperhydration in Children With Shiga Toxin-Producing E. Coli Infection
NCT05985122	Not specified	ACTIVE_NOT_RECRUITING	New Analytic Tools for aHUS and C3G Diagnosis
NCT05991245	Not specified	UNKNOWN	French National Cohort MATRIX Renal and Systemic Thrombotic Microangiopathy