EXOSC2

Summary

EXOSC2 (exosome component 2, HGNC:17097) is a protein-coding gene on chromosome 9q34.12, encoding Exosome complex component RRP4 (Q13868). Non-catalytic component of the RNA exosome complex which has 3’->5’ exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. It is a common-essential gene (DepMap: required in 98.3% of cancer cell lines).

Predicted to enable RNA binding activity. Involved in RNA catabolic process; RNA processing; and positive regulation of cell growth. Located in cytosol; nucleolus; and nucleoplasm. Part of nuclear exosome (RNase complex). Implicated in short stature, hearing loss, retinitis pigmentosa, and distinctive facies.

Source: NCBI Gene 23404 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 306 total — 2 likely-pathogenic (top 10% of genes corpus-wide)
• GTEx eGene: eQTL in 17 tissues, sQTL in 0 (q < 0.05)
• Phenotypes (HPO): 43
• Cancer dependency (DepMap): dependent in 98.3% of screened cell lines (common-essential)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.01 (unconstrained)
• MANE Select transcript: NM_014285
• Interaction hub: 1,840 STRING partners (top 9% of genes corpus-wide)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17097
Approved symbol	EXOSC2
Name	exosome component 2
Location	9q34.12
Locus type	gene with protein product
Status	Approved
Aliases	hRrp4p, Rrp4p, RRP4, p7
Ensembl gene	ENSG00000130713
Ensembl biotype	protein_coding
OMIM	602238
Entrez	23404

Gene structure

Transcript identifiers

Ensembl transcripts: 52 — 19 protein_coding, 18 nonsense_mediated_decay, 11 retained_intron, 4 protein_coding_CDS_not_defined

MANE Select: ENST00000372358

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

ENST00000372358, ENST00000372350, ENST00000372351, ENST00000372352, ENST00000430138, ENST00000463488, ENST00000467138, ENST00000490641, ENST00000491115, ENST00000495699, ENST00000546165, ENST00000685137, ENST00000685277, ENST00000686102, ENST00000686106, ENST00000687051, ENST00000687420, ENST00000688258, ENST00000688350, ENST00000688364, ENST00000688967, ENST00000689662, ENST00000689890, ENST00000691104, ENST00000691162, ENST00000691284, ENST00000691425, ENST00000691926, ENST00000691956, ENST00000692554, ENST00000692794, ENST00000693011, ENST00000693435, ENST00000693610, ENST00000851442, ENST00000851443, ENST00000851444, ENST00000851445, ENST00000851446, ENST00000917908, ENST00000917909, ENST00000954431, ENST00000954432, ENST00000954433, ENST00000954434, ENST00000989261, ENST00001060111, ENST00001060112, ENST00001060113, ENST00001103784, ENST00001123675, ENST00001140255

RefSeq mRNA: 3 — MANE Select: NM_014285 NM_001282708, NM_001282709, NM_014285

CCDS: CCDS65160, CCDS65161, CCDS6935

Canonical transcript exons

ENST00000372358 — 9 exons

Exon	Start	End
ENSE00003458912	130699329	130699394
ENSE00003472459	130695492	130695593
ENSE00003489687	130700867	130700935
ENSE00003520620	130698162	130698251
ENSE00003655953	130697582	130697627
ENSE00003679934	130693780	130693913
ENSE00003690464	130702134	130702310
ENSE00003788968	130703053	130703181
ENSE00003848430	130703694	130704892

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 91.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.9712 / max 553.9949, expressed in 1805 samples.

Highest expression (Bgee): ganglionic eminence, ventricular zone, cortical plate, primordial germ cell in gonad, calcaneal tendon.

Genetic regulation across tissues (GTEx eQTL / sQTL)

EXOSC2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 17 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

17 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	7.8e-07	-0.57	9:130704439:G:A
Brain Nucleus accumbens basal ganglia	eqtl	1.4e-05	-0.78	9:130704439:G:A
Muscle Skeletal	eqtl	7.4e-05	-0.40	9:130704439:G:A
Brain Anterior cingulate cortex BA24	eqtl	2.0e-04	-0.87	9:130920559:C:G
Cells Cultured fibroblasts	eqtl	1.2e-03	+0.07	9:130679670:C:T
Skin Sun Exposed Lower leg	eqtl	1.3e-03	-0.46	9:130144317:A:G
Brain Cerebellum	eqtl	1.6e-03	+0.23	9:130758120:A:G
Thyroid	eqtl	2.8e-03	+0.10	9:130678678:A:G
Nerve Tibial	eqtl	7.1e-03	-0.41	9:130704439:G:A
Brain Cerebellar Hemisphere	eqtl	7.5e-03	+0.25	9:130705557:C:T
Esophagus Mucosa	eqtl	8.6e-03	-0.32	9:130704439:G:A
Lung	eqtl	9.3e-03	-0.28	9:130704439:G:A
Esophagus Muscularis	eqtl	1.1e-02	+0.67	9:129731830:C:T
Pituitary	eqtl	1.2e-02	+0.21	9:130682200:C:T
Colon Sigmoid	eqtl	1.3e-02	+0.16	9:130681045:TC:T
Brain Hippocampus	eqtl	3.2e-02	+0.41	9:129694816:G:A
Brain Cortex	eqtl	3.7e-02	+1.13	9:130470798:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
99029	24.9712	1805

Top tissues by expression

showing 100 of 285 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	91.28	gold quality
ventricular zone	UBERON:0003053	90.81	gold quality
cortical plate	UBERON:0005343	88.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.31	gold quality
calcaneal tendon	UBERON:0003701	87.92	gold quality
cerebellar hemisphere	UBERON:0002245	87.27	gold quality
cerebellar cortex	UBERON:0002129	87.17	gold quality
left ovary	UBERON:0002119	87.13	gold quality
granulocyte	CL:0000094	87.07	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.94	gold quality
right ovary	UBERON:0002118	86.87	gold quality
endometrium epithelium	UBERON:0004811	86.65	gold quality
rectum	UBERON:0001052	86.63	gold quality
embryo	UBERON:0000922	86.61	gold quality
left uterine tube	UBERON:0001303	86.02	gold quality
sural nerve	UBERON:0015488	85.87	gold quality
body of uterus	UBERON:0009853	85.77	gold quality
cerebellum	UBERON:0002037	85.75	gold quality
colonic epithelium	UBERON:0000397	85.71	gold quality
body of pancreas	UBERON:0001150	85.62	gold quality
monocyte	CL:0000576	85.58	gold quality
islet of Langerhans	UBERON:0000006	85.42	gold quality
muscle of leg	UBERON:0001383	85.22	gold quality
stromal cell of endometrium	CL:0002255	85.21	gold quality
gastrocnemius	UBERON:0001388	85.16	gold quality
mucosa of stomach	UBERON:0001199	85.08	gold quality
ovary	UBERON:0000992	85.06	gold quality
right lobe of liver	UBERON:0001114	85.04	gold quality
body of stomach	UBERON:0001161	85.03	gold quality
skin of abdomen	UBERON:0001416	85.00	gold quality
ectocervix	UBERON:0012249	84.96	gold quality
pancreas	UBERON:0001264	84.88	gold quality
leukocyte	CL:0000738	84.79	gold quality
prefrontal cortex	UBERON:0000451	84.79	gold quality
tibial nerve	UBERON:0001323	84.78	gold quality
mononuclear cell	CL:0000842	84.77	gold quality
endocervix	UBERON:0000458	84.76	gold quality
esophagus mucosa	UBERON:0002469	84.69	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	84.52	gold quality
skin of leg	UBERON:0001511	84.35	gold quality
mucosa of transverse colon	UBERON:0004991	84.29	gold quality
esophagus	UBERON:0001043	84.27	gold quality
descending thoracic aorta	UBERON:0002345	84.23	gold quality
adrenal tissue	UBERON:0018303	84.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.18	gold quality
omental fat pad	UBERON:0010414	84.04	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.01	gold quality
peritoneum	UBERON:0002358	84.00	gold quality
lower esophagus	UBERON:0013473	83.98	gold quality
left adrenal gland cortex	UBERON:0035825	83.92	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.91	gold quality
lymph node	UBERON:0000029	83.90	gold quality
right adrenal gland	UBERON:0001233	83.85	gold quality
right lobe of thyroid gland	UBERON:0001119	83.79	gold quality
smooth muscle tissue	UBERON:0001135	83.74	gold quality
spleen	UBERON:0002106	83.74	gold quality
transverse colon	UBERON:0001157	83.73	gold quality
left adrenal gland	UBERON:0001234	83.73	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.73	gold quality
stomach	UBERON:0000945	83.69	gold quality
popliteal artery	UBERON:0002250	83.64	gold quality
tibial artery	UBERON:0007610	83.64	gold quality
endothelial cell	CL:0000115	83.63	gold quality
right uterine tube	UBERON:0001302	83.55	gold quality
minor salivary gland	UBERON:0001830	83.52	gold quality
left coronary artery	UBERON:0001626	83.46	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.29	gold quality
vagina	UBERON:0000996	83.27	gold quality
right frontal lobe	UBERON:0002810	83.26	gold quality
right adrenal gland cortex	UBERON:0035827	83.26	gold quality
apex of heart	UBERON:0002098	83.24	gold quality
adrenal gland	UBERON:0002369	83.17	gold quality
aorta	UBERON:0000947	83.09	gold quality
upper lobe of left lung	UBERON:0008952	83.01	gold quality
metanephros cortex	UBERON:0010533	82.98	gold quality
right atrium auricular region	UBERON:0006631	82.95	gold quality
left lobe of thyroid gland	UBERON:0001120	82.87	gold quality
vermiform appendix	UBERON:0001154	82.82	gold quality
lower esophagus mucosa	UBERON:0035834	82.59	gold quality
adrenal cortex	UBERON:0001235	82.57	gold quality
thoracic aorta	UBERON:0001515	82.57	gold quality
coronary artery	UBERON:0001621	82.48	gold quality
small intestine	UBERON:0002108	82.46	gold quality
ascending aorta	UBERON:0001496	82.44	gold quality
tendon	UBERON:0000043	82.41	gold quality
zone of skin	UBERON:0000014	82.40	gold quality
thyroid gland	UBERON:0002046	82.28	gold quality
tonsil	UBERON:0002372	82.23	gold quality
heart left ventricle	UBERON:0002084	82.06	gold quality
right coronary artery	UBERON:0001625	82.05	gold quality
cingulate cortex	UBERON:0003027	82.05	gold quality
upper lobe of lung	UBERON:0008948	81.99	gold quality
mouth mucosa	UBERON:0003729	81.98	gold quality
anterior cingulate cortex	UBERON:0009835	81.92	gold quality
neocortex	UBERON:0001950	81.86	gold quality
sigmoid colon	UBERON:0001159	81.78	gold quality
colon	UBERON:0001155	81.77	gold quality
intestine	UBERON:0000160	81.75	gold quality
frontal cortex	UBERON:0001870	81.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.66	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Frontal cortex	tissue	15.9
Caudate putamen	tissue	15.4
Cerebellum	tissue	14.9	high
Hippocampal formation	tissue	14.8
Corpus callosum	tissue	13.7
Prefrontal cortex	tissue	13.3
Cerebral cortex	tissue	13.3	high
Motor cortex	tissue	13.3
Entorhinal cortex	tissue	13.3
Retrosplenial cortex	tissue	13.3
Temporal cortex	tissue	13.3
Occipital cortex	tissue	13.3
Septum	tissue	13.2
Ventral forebrain	tissue	13.1
Retrosplenial and cingulate cortex	tissue	13.1
Insular cortex	tissue	12.9
Amygdala	tissue	12.7
Olfactory bulb	tissue	12.4
Somatosensory cortex	tissue	12.2
Basal ganglia	tissue	12.1	low
Thalamus	tissue	11.9
Hypothalamus	tissue	11.6
Pons	tissue	11.5
Putamen	tissue	11.3
Midbrain	tissue	11.3
Substantia nigra	tissue	11.3
Superior colliculi	tissue	11.1
Spinal cord	tissue	11.1
Medulla oblongata	tissue	10.7
Thymus	tissue	9.8
Periaqueductal gray	tissue	9.7
Tonsil	tissue	9.2	medium
Ovary	tissue	8.9	high
Tongue	tissue	8.8
Breast	tissue	7.6	medium
Parathyroid gland	tissue	7.6	high
Smooth muscle	tissue	7.6	medium
Fallopian tube	tissue	7.5	medium
Lymph node	tissue	7.4	low
Liver	tissue	7.3	high
Rectum	tissue	6.9	medium
Urinary bladder	tissue	6.9	high
Seminal vesicle	tissue	5.9	high
Endometrium 1	tissue	5.7	high
Appendix	tissue	5.6	medium
Heart muscle	tissue	5.5	medium
Kidney	tissue	5.5	high
Adipose tissue	tissue	5.4	medium
Esophagus	tissue	5.3	medium
Cervix	tissue	5.2	medium
Colon	tissue	5.2	medium
Placenta	tissue	5.2	high
Prostate	tissue	5.2	high
Retina	tissue	5.0
Thyroid gland	tissue	4.6	medium
Duodenum	tissue	4.5	medium
Stomach 1	tissue	4.4	medium
Vagina	tissue	4.4	medium
Spleen	tissue	4.4	medium
Skeletal muscle	tissue	4.2	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Ventral hippocampus (14.8), Subiculum (14.7), Dorsal hippocampus (13.7), White matter (13.7), Dorsal spinal cord (11.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting EXOSC2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

23 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-1273H-3P	99.29	67.55	980
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-1257	98.97	68.02	1133
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-138-1-3P	98.25	67.89	867
HSA-MIR-3166	98.24	66.63	1223
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-3200-5P	97.34	65.97	826
HSA-MIR-5187-3P	97.28	67.10	1037
HSA-MIR-4264	96.35	64.76	1480

Functional genomics

gnomAD constraint: pLI 5.22e-08, LOEUF 1.01, missense Z 0.682 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000372358 — one region, missense o/e 0.95. DepMap (CRISPR cell-line fitness): dependent in 98.3% of screened cell lines, common-essential.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): OPM-2 (-2.216), IMR-32 (-2.092), LN-235 (-2.024), NCI-H226 (-2.015), DAN-G (-2.006), U343 (-1.948), PA-TU-8988T (-1.933), RCC10RGB (-1.917), SK-N-DZ (-1.899), KARPAS-422 (-1.896), KMS-26 (-1.876), SK-N-MC (-1.849), A-673 (-1.834), HCC1187 (-1.79), NCI-H1694 (-1.776).

Literature-anchored findings (GeneRIF, showing 6)

• Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. (PMID:12419256)
• Knock-down of hRrp41p or hRrp4p but not PM/Scl-100 or PM/Scl-75 leads to codepletion of other subunits. (PMID:17545563)
• The EXOSC2-associated phenotype shows only minimal overlap with the previously reported diseases associated with mutations. (PMID:26843489)
• Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. (PMID:31628467)
• A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. (PMID:34162742)
• Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication. (PMID:36241425)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	exosc2	ENSDARG00000028688
mus_musculus	Exosc2	ENSMUSG00000039356
rattus_norvegicus	Exosc2	ENSRNOG00000009245
drosophila_melanogaster	Rrp4	FBGN0034879
caenorhabditis_elegans		WBGENE00022232

Paralogs (1): EXOSC3 (ENSG00000107371)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2385133) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 12 distinct phenotype terms.

Mouse phenotype (MP)	Records
failure of embryo implantation	2
failure of blastocyst to hatch from the zona pellucida	2
embryonic lethality prior to organogenesis, complete penetrance	2
absent trophoblast giant cells	1
abnormal inner cell mass morphology	1
abnormal trophectoderm morphology	1
abnormal metabolism	1
abnormal preimplantation embryo development	1
preweaning lethality, complete penetrance	1
abnormal primitive endoderm morphology	1
small embryonic epiblast	1
embryonic lethality prior to organogenesis	1

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
Bos taurus	Q2KID0	96.2%	Diamond
Saccharomyces cerevisiae S288C	P38792	54.7%	Diamond
Schizosaccharomyces pombe 972h-	Q09704	53.7%	Diamond
Arabidopsis thaliana	Q9ZVT7	52.9%	Diamond
Aeropyrum pernix K1	Q9YC02	52.0%	Diamond
Nitrosopumilus maritimus SCM1	A9A5C8	40.1%	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
ABL1	protein-coding	25
FIBCD1-AS1	ncRNA	105376297
QRFP	protein-coding	347148
PRDM12	protein-coding	59335
FIBCD1	protein-coding	84929
MIR6856	ncRNA	102465515
FUBP3	protein-coding	8939

Protein

Protein identifiers

Exosome complex component RRP4 — Q13868 (reviewed: Q13868)

Alternative names: Exosome component 2, Ribosomal RNA-processing protein 4

All UniProt accessions (9): A0A8I5KRS5, A0A8I5KV47, A0A8I5KVY3, A0A8I5KYK9, A0A8I5QL34, A3KFL2, A3KFL5, B4E001, Q13868

UniProt curated annotations — full annotation on UniProt →

Function. Non-catalytic component of the RNA exosome complex which has 3’->5’ exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding ‘pervasive’ transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3’ untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7.

Subunit / interactions. Component of the RNA exosome core complex (Exo-9), composed of EXOSC1, EXOSC2, EXOSC3, EXOSC4, EXOSC5, EXOSC6, EXOSC7, EXOSC8 and EXOSC9; within the complex interacts with EXOSC4 and EXOSC7. The catalytically inactive RNA exosome core complex (Exo-9) associates with the catalytic subunit EXOSC10/RRP6. Exo-9 may associate with DIS3 to form the nucleolar exosome complex, or DIS3L to form the cytoplasmic exosome complex. Exo-9 is formed by a hexameric base ring consisting of the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and a cap ring consisting of EXOSC1, EXOSC2 and EXOSC3. The RNA exosome complex associates with cofactors C1D/RRP47, MPHOSPH6/MPP6 and MTREX/MTR4. Interacts with GTPBP1. Interacts with ZFP36L1 (via N-terminus).

Subcellular location. Cytoplasm. Nucleus. Nucleolus.

Disease relevance. Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763] An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the RRP4 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q13868-1	1	yes
Q13868-2	2
Q13868-3	3

RefSeq proteins (3): NP_001269637, NP_001269638, NP_055100* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004088	KH_dom_type_1	Domain
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR025721	Exosome_cplx_N_dom	Domain
IPR026699	Exosome_RNA_bind1/RRP40/RRP4	Family
IPR036612	KH_dom_type_1_sf	Homologous_superfamily
IPR048565	S1_RRP4	Domain

Pfam: PF14382, PF15985, PF21266

UniProt features (40 total): strand 20, helix 9, turn 4, splice variant 2, sequence variant 2, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

8 structures by resolution:

PDB	Title	Method	Resolution (Å)
9G8M	human 80S ribosome bound by a SKI2-exosome complex	ELECTRON MICROSCOPY	3.3
2NN6	Structure of the human RNA exosome composed of Rrp41, Rrp45, Rrp46, Rrp43, Mtr3, Rrp42 …	X-RAY DIFFRACTION	3.35
9G8O	human 40S ribosome bound by a SKI238-exosome complex	ELECTRON MICROSCOPY	3.4
6D6Q	Human nuclear exosome-MTR4 RNA complex - overall reconstruction	ELECTRON MICROSCOPY	3.45
6D6R	Human nuclear exosome-MTR4 RNA complex - composite map after focused reconstruction	ELECTRON MICROSCOPY	3.45
9G8N	80S-bound human Ski2-exosome complex	ELECTRON MICROSCOPY	3.7
6H25	Human nuclear RNA exosome EXO-10-MPP6 complex	ELECTRON MICROSCOPY	3.8
9G8P	40S-bound human SKI2-exosome complex	ELECTRON MICROSCOPY	7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13868-F1	81.25	0.31

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins, Disease related genes, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoli; nucleoplasm

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.

Post-translational modifications (1)

Type	Positions
Phosphoserine	124

Function

Pathways and Gene Ontology

Reactome pathways

7 curated (TAS) of 17; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

17 pathways:

ID	Pathway	Evidence
R-HSA-380994	ATF4 activates genes in response to endoplasmic reticulum stress	curated
R-HSA-450385	Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA	curated
R-HSA-450604	KSRP (KHSRP) binds and destabilizes mRNA	curated
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol	curated
R-HSA-9930044	Nuclear RNA decay	curated
R-HSA-450513	Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA	curated
R-HSA-429958	mRNA decay by 3’ to 5’ exoribonuclease	curated
R-HSA-8953897	Cellular responses to stimuli	—
R-HSA-2262752	Cellular responses to stress	—
R-HSA-429914	Deadenylation-dependent mRNA decay	—
R-HSA-8953854	Metabolism of RNA	—
R-HSA-381042	PERK regulates gene expression	—
R-HSA-450531	Regulation of mRNA stability by proteins that bind AU-rich elements	—
R-HSA-9938024	Somatic hypermutation of immunoglobulin genes	electronic
R-HSA-381119	Unfolded Protein Response (UPR)	—
R-HSA-72312	rRNA processing	—
R-HSA-8868773	rRNA processing in the nucleus and cytosol	—

MSigDB gene sets: 328 (showing top): GOBP_RIBOSOME_BIOGENESIS, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOMF_RNA_NUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_SNO_S_RNA_METABOLIC_PROCESS, MODULE_45, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_TRNA_METABOLIC_PROCESS, MATTIOLI_MGUS_VS_PCL, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KENNY_CTNNB1_TARGETS_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_GROWTH, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_16

GO Biological Process (11): exonucleolytic trimming to generate mature 3’-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000467), nuclear-transcribed mRNA catabolic process (GO:0000956), rRNA processing (GO:0006364), RNA processing (GO:0006396), RNA catabolic process (GO:0006401), positive regulation of cell growth (GO:0030307), U4 snRNA 3’-end processing (GO:0034475), CUT catabolic process (GO:0071034), nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035), TRAMP-dependent tRNA surveillance pathway (GO:0071038), poly(A)-dependent snoRNA 3’-end processing (GO:0071051)

GO Molecular Function (5): 3’-5’-RNA exonuclease activity (GO:0000175), RNA binding (GO:0003723), 7S RNA binding (GO:0008312), exonuclease activity (GO:0004527), protein binding (GO:0005515)

GO Cellular Component (8): nuclear exosome (RNase complex) (GO:0000176), cytoplasmic exosome (RNase complex) (GO:0000177), exosome (RNase complex) (GO:0000178), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

10 top-level categories:

Category	Pathways
Metabolism of RNA	4
Regulation of mRNA stability by proteins that bind AU-rich elements	3
PERK regulates gene expression	1
Deadenylation-dependent mRNA decay	1
rRNA processing in the nucleus and cytosol	1
Affinity selection of immunoglobulins	1
Cellular responses to stimuli	1
Unfolded Protein Response (UPR)	1
Cellular responses to stress	1
rRNA processing	1

GO top-level categories

37 GO namespaces:

Category	Terms
nuclear lumen	3
cellular anatomical structure	3
nuclear RNA surveillance	2
exosome (RNase complex)	2
cytoplasm	2
intracellular anatomical structure	2
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
rRNA 3’-end processing	1
mRNA catabolic process	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
RNA metabolic process	1
nucleic acid catabolic process	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
positive regulation of cellular process	1
snRNA 3’-end processing	1
RNA catabolic process	1
tRNA surveillance	1
sno(s)RNA 3’-end processing	1
3’-5’ exonuclease activity	1
RNA exonuclease activity, producing 5’-phosphomonoesters	1
nucleic acid binding	1
RNA binding	1
nuclease activity	1
hydrolase activity, acting on ester bonds	1
binding	1
nucleus	1
nuclear protein-containing complex	1
exoribonuclease complex	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 10 of 24 annotations. The rest are phylogenetic / computational / electronic (IEA).

10 experimentally-supported GO terms:

GO term	NS	Evidence
RNA catabolic process	BP	direct assay
RNA processing	BP	direct assay
positive regulation of cell growth	BP	mutant phenotype
cytoplasm	CC	direct assay
cytosol	CC	direct assay
exosome (RNase complex)	CC	direct assay
nuclear exosome (RNase complex)	CC	direct assay
nucleolus	CC	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,840 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOSC2	EXOSC3	Q9NQT5	945
EXOSC2	EXOSC7	Q15024	943
EXOSC2	EXOSC1	Q9Y3B2	942
EXOSC2	EXOSC5	Q9NQT4	941
EXOSC2	EXOSC8	Q96B26	941
EXOSC2	EXOSC6	Q5RKV6	939
EXOSC2	EXOSC4	Q9NPD3	929
EXOSC2	EXOSC9	Q06265	840
EXOSC2	EXOSC10	Q01780	783
EXOSC2	DIS3	Q9Y2L1	741
EXOSC2	MTREX	P42285	713
EXOSC2	C1D	Q13901	693
EXOSC2	DIS3L	Q8TF46	682
EXOSC2	RBM7	Q9Y580	665
EXOSC2	GRIPAP1	Q4V328	643

IntAct

Human interaction partners of EXOSC2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

23 partners by confidence:

Partner	Interaction type	MIscore	Records
EXOSC4	physical association	0.910	3
EXOSC3	physical association	0.910	1
EXOSC7	physical association	0.890	5
EXOSC1	association	0.850	1
EXOSC10	association	0.840	3
MPHOSPH6	physical association	0.770	1
DIS3L	association	0.690	3
DIS3	physical association	0.620	2
SBK3	physical association	0.560	3
MTREX	association	0.530	2
HNRNPD	physical association	0.400	1
PNN	physical association	0.400	1
AICDA	association	0.350	1
NVL	association	0.350	1
WDR46	association	0.350	1
ZNF408	physical association	0.000	3
DHPS	physical association	0.000	1
EXOSC9	physical association	0.000	1
LRRC47	physical association	0.000	1
LUM	physical association	0.000	1
RNF8	physical association	0.000	1
RSRC1	physical association	0.000	1
SLIT2	physical association	0.000	1

BioGRID (327 interactions; top human partners by supporting records): EXOSC4 (Co-fractionation; 15 records), EXOSC7 (Affinity Capture-MS; 13 records), EXOSC3 (Affinity Capture-MS; 12 records), EXOSC5 (Co-fractionation; 8 records), EXOSC8 (Affinity Capture-MS; 8 records), EXOSC9 (Co-fractionation; 8 records), DIS3L (Affinity Capture-MS; 7 records), EXOSC1 (Co-fractionation; 7 records), MPHOSPH6 (Co-fractionation; 7 records), EXOSC10 (Co-fractionation; 6 records), AICDA (Affinity Capture-MS; 4 records), EXOSC6 (Co-fractionation; 4 records), RBM7 (Affinity Capture-MS; 4 records), C1D (Affinity Capture-MS; 3 records), DIS3 (Co-fractionation; 3 records)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
EXOSC2	“form complex”	Exosome_Complex	binding

Protein complexes (CORUM) (4)

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

4 complexes by size:

Complex	Subunits	Members
Exosome	12	EXOSC3, EXOSC6, EXOSC7, EXOSC8, EXOSC1, EXOSC10, EXOSC4, EXOSC5, EXOSC9, MPHOSPH6, DIS3L, EXOSC2
Exosome	11	EXOSC1, EXOSC2, EXOSC6, EXOSC7, EXOSC9, DIS3, EXOSC10, EXOSC3, EXOSC4, EXOSC5, EXOSC8
Exosome	10	EXOSC9, DIS3, EXOSC2, EXOSC3, EXOSC4, EXOSC5, EXOSC6, EXOSC7, EXOSC8, EXOSC1
mRNA decay complex (UPF1, UPF2, UPF3B, DCP2, XRN1, XRN2, EXOSC2, EXOSC4, EXOSC10, PARN)	10	XRN1, XRN2, DCP2, EXOSC2, EXOSC4, PARN, UPF1, UPF3B, EXOSC10, UPF2

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 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
mRNA decay by 3’ to 5’ exoribonuclease	6	251.9×	8e-13
Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA	6	223.9×	9e-13
Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA	6	223.9×	9e-13
KSRP (KHSRP) binds and destabilizes mRNA	6	223.9×	9e-13
Nuclear RNA decay	9	163.4×	2e-17
ATF4 activates genes in response to endoplasmic reticulum stress	6	143.9×	2e-11
Major pathway of rRNA processing in the nucleolus and cytosol	10	36.3×	6e-13

GO biological processes:

GO term	Partners	Fold	FDR
rRNA catabolic process	5	225.3×	6e-10
RNA catabolic process	10	207.0×	7e-20
RNA processing	9	89.5×	2e-14
rRNA processing	9	57.9×	8e-13

Disease & clinical

Genetic variants

Variant evidence for EXOSC2: 306 ClinVar records (2 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	145
Likely benign	129
Benign	6

Top pathogenic / likely-pathogenic (2)

Showing all 2 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
446203	NM_014285.7(EXOSC2):c.593G>A (p.Gly198Asp)	Likely pathogenic	criteria provided, single submitter	2
2442149	NM_014285.7(EXOSC2):c.611G>A (p.Trp204Ter)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore EXOSC2’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; 25 predictions of 749):

Position(s)	Effect	Δscore	Sites
9:130693914–130693915	donor_loss	1.0000	3
9:130695475	acceptor_gain	1.0000
9:130699378	donor_gain	1.0000
9:130703050	acceptor_gain	1.0000
9:130703051–130703052	acceptor_loss	1.0000	6
9:130703067	acceptor_gain	1.0000
9:130703182–130703183	donor_loss	1.0000	5
9:130703692–130703693	acceptor_loss	1.0000	4
9:130693914	donor_loss	0.9900	2
9:130695479	acceptor_gain	0.9900

AlphaMissense

814 missense substitutions predicted likely pathogenic (of 1,902 scored), across 198 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
M131	9	0.918	0.991
D82	8	0.986	0.998
D127	8	0.986	0.996
N200	8	0.962	0.999
H157	8	0.959	0.996
H43	8	0.943	0.990
D139	8	0.897	0.975
D151	8	0.889	0.979
H185	8	0.860	0.986
W96	7	0.998	1.000
R159	7	0.991	0.999
E144	7	0.990	0.997
W204	7	0.982	0.999
R121	7	0.980	0.998
M40	7	0.959	0.995
Q146	7	0.937	0.969
F149	7	0.896	0.973
F39	7	0.895	0.985
E128	7	0.832	0.956
N239	7	0.827	0.983

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	4.74e-07
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	1.01e-05
Lung Adenocarcinoma (TCGA)	unfavorable	3.5e-05

Disease associations

OMIM: gene MIM:602238 | disease phenotypes: MIM:617763

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	Strong	Autosomal recessive	6

ClinGen Gene-Disease Validity

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

1 validity classifications:

Disease	Classification	Inheritance
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	Limited	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (1 panels, 0 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

1 panels:

Panel	Rating
Retinal disorders	amber

Mondo (1): retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (MONDO:0044634)

Orphanet (1): Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (Orphanet:494439)

HPO phenotypes

43 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000219	Thin upper lip vermilion
HP:0000343	Long philtrum
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000455	Broad nasal tip
HP:0000463	Anteverted nares
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000501	Glaucoma
HP:0000510	Rod-cone dystrophy
HP:0000545	Myopia
HP:0000582	Upslanted palpebral fissure
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000750	Delayed speech and language development
HP:0000821	Hypothyroidism
HP:0000822	Hypertension
HP:0001131	Corneal dystrophy
HP:0001156	Brachydactyly
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001321	Cerebellar hypoplasia
HP:0002120	Cerebral cortical atrophy
HP:0002135	Basal ganglia calcification
HP:0002188	Delayed CNS myelination
HP:0002232	Patchy alopecia
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0005328	Progeroid facial appearance
HP:0008070	Sparse hair
HP:0009836	Broad distal phalanx of finger
HP:0010761	Broad columella
HP:0011003	High myopia
HP:0011120	Concave nasal ridge
HP:0011220	Prominent forehead
HP:0011304	Broad thumb
HP:0012510	Extra-axial cerebrospinal fluid accumulation
HP:0012745	Short palpebral fissure
HP:0012810	Wide nasal base

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, affects binding, increases reaction, decreases expression, increases activity	4
bisphenol A	decreases expression, decreases methylation	2
deoxynivalenol	increases expression	2
Estradiol	increases expression	2
Tretinoin	decreases expression	2
Particulate Matter	decreases reaction, increases expression, affects cotreatment, decreases expression, increases abundance	2
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
bufotalin	decreases expression	1
methylmercuric chloride	decreases expression	1
bis(tri-n-butyltin)oxide	decreases expression	1
sodium arsenate	decreases expression	1
trichostatin A	affects expression	1
afimoxifene	decreases reaction, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	increases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
NSC 689534	affects binding, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Troglitazone	decreases expression	1
Air Pollutants	affects expression, increases abundance	1

Clinical trials (associated diseases)

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

40 trials:

NCT	Phase	Status	Title
NCT04224207	Phase 3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	Phase 3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	Phase 2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	Phase 2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	Phase 2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	Phase 1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	Phase 1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	Phase 1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	Phase 2/3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	Phase 1/2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	Phase 1/2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	Phase 1/2	ACTIVE_NOT_RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	Phase 1/2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	Phase 1/2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	Phase 1/2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	Early Phase 1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT07656753	Early Phase 1	RECRUITING	Safety and Efficacy Study of PUMCH-E111 Injection in Subjects With RLBP1 Related Inherited Retinal Dystrophy
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality