ESPN

Summary

ESPN (espin, HGNC:13281) is a protein-coding gene on chromosome 1p36.31, encoding Espin (B1AK53). Multifunctional actin-bundling protein.

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement.

Source: NCBI Gene 83715 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 699 total — 14 pathogenic, 22 likely-pathogenic (top 5% of genes corpus-wide)
• GTEx eGene: eQTL in 23 tissues, sQTL in 8 (q < 0.05)
• Phenotypes (HPO): 26
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.31 (unconstrained)
• MANE Select transcript: NM_031475

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13281
Approved symbol	ESPN
Name	espin
Location	1p36.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187017
Ensembl biotype	protein_coding
OMIM	606351
Entrez	83715

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

MANE Select: ENST00000645284

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 4, TSL 3: 4, TSL 5: 6

ENST00000645284, ENST00000418286, ENST00000434576, ENST00000461727, ENST00000468561, ENST00000475228, ENST00000475479, ENST00000477679, ENST00000478323, ENST00000632142, ENST00000632593, ENST00000632803, ENST00000633239, ENST00000633651, ENST00000636330, ENST00000636644

RefSeq mRNA: 3 — MANE Select: NM_031475 NM_001367473, NM_001367474, NM_031475

CCDS: CCDS70

Canonical transcript exons

ENST00000645284 — 13 exons

Exon	Start	End
ENSE00001607954	6440254	6440440
ENSE00001628075	6428226	6428419
ENSE00001652588	6444481	6444682
ENSE00001663987	6448641	6449091
ENSE00001694857	6459999	6460944
ENSE00001726498	6440934	6441065
ENSE00001750382	6440626	6440808
ENSE00002140881	6445664	6445935
ENSE00003544352	6451603	6451748
ENSE00003610124	6451833	6452096
ENSE00003630784	6457184	6457263
ENSE00003685596	6457361	6457372
ENSE00003825592	6424776	6425249

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 98.80.

FANTOM5 (CAGE): breadth broad, TPM avg 4.4751 / max 476.3177, expressed in 563 samples.

Highest expression (Bgee): testis, uterine tube, lobe of liver, mucosa of transverse colon, skin of abdomen.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ESPN is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 23 tissues and its splicing (sQTL) in 8 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 31 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Skin Sun Exposed Lower leg	eqtl	9.5e-73	-0.47	1:6433403:T:C
Skin Not Sun Exposed Suprapubic	eqtl	2.6e-58	-0.45	1:6433403:T:C
Skin Sun Exposed Lower leg	sqtl	4.6e-29	-0.94	1:6448565:A:G
Testis	sqtl	2.2e-26	-0.89	1:6446883:G:C
Skin Not Sun Exposed Suprapubic	sqtl	2.9e-25	-0.93	1:6449607:T:C
Whole Blood	eqtl	2.9e-20	+0.82	1:6429956:G:A
Esophagus Mucosa	sqtl	1.7e-17	-0.75	1:6448062:G:C
Breast Mammary Tissue	eqtl	6.0e-12	+0.52	1:6426617:C:T
Nerve Tibial	sqtl	5.8e-09	-0.70	1:6448652:T:C
Esophagus Mucosa	eqtl	1.2e-06	-0.20	1:6434339:C:T
Liver	sqtl	1.9e-06	-1.04	1:6448565:A:G
Adipose Subcutaneous	eqtl	7.5e-05	+1.08	1:6461443:G:A
Pituitary	sqtl	7.7e-05	-0.92	1:6447167:G:C
Pituitary	eqtl	5.2e-04	+0.29	1:6427917:G:A
Brain Hypothalamus	eqtl	2.2e-03	+0.58	1:6398438:C:A
Testis	eqtl	3.4e-03	-0.18	1:6313638:T:C
Adipose Visceral Omentum	eqtl	5.5e-03	+1.44	1:6456963:T:G
Vagina	eqtl	7.1e-03	+1.83	1:6761125:G:T
Spleen	eqtl	7.8e-03	+0.66	1:6403417:C:T
Artery Aorta	eqtl	1.0e-02	-0.41	1:5640194:T:A

FANTOM5 promoters

showing 10 of 17 alternative TSS:

Promoter ID	TPM avg	Samples expressed
381	2.9652	363
385	0.5012	160
387	0.1636	44
393	0.1433	37
396	0.1174	39
384	0.1100	48
386	0.0963	35
392	0.0827	32
390	0.0756	23
398	0.0698	21

Top tissues by expression

showing 100 of 236 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	98.80	gold quality
left testis	UBERON:0004533	98.79	gold quality
right uterine tube	UBERON:0001302	97.93	gold quality
right lobe of liver	UBERON:0001114	97.27	gold quality
mucosa of transverse colon	UBERON:0004991	96.81	gold quality
testis	UBERON:0000473	96.23	gold quality
skin of abdomen	UBERON:0001416	94.56	gold quality
skin of leg	UBERON:0001511	93.64	gold quality
liver	UBERON:0002107	93.58	gold quality
kidney epithelium	UBERON:0004819	93.52	gold quality
ileal mucosa	UBERON:0000331	93.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.35	gold quality
adult mammalian kidney	UBERON:0000082	93.16	gold quality
metanephros cortex	UBERON:0010533	92.81	gold quality
lower esophagus mucosa	UBERON:0035834	92.75	gold quality
upper arm skin	UBERON:0004263	91.79	silver quality
zone of skin	UBERON:0000014	91.17	gold quality
adenohypophysis	UBERON:0002196	90.38	gold quality
pituitary gland	UBERON:0000007	90.06	gold quality
jejunal mucosa	UBERON:0000399	89.40	gold quality
duodenum	UBERON:0002114	89.32	gold quality
esophagus mucosa	UBERON:0002469	89.01	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.54	gold quality
buccal mucosa cell	CL:0002336	88.36	silver quality
small intestine	UBERON:0002108	88.25	gold quality
transverse colon	UBERON:0001157	87.23	gold quality
kidney	UBERON:0002113	85.38	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.29	gold quality
sural nerve	UBERON:0015488	84.26	gold quality
metanephros	UBERON:0000081	83.89	gold quality
cortex of kidney	UBERON:0001225	83.10	gold quality
corpus epididymis	UBERON:0004359	82.79	gold quality
sperm	CL:0000019	82.34	silver quality
cerebellar cortex	UBERON:0002129	82.25	gold quality
cerebellar hemisphere	UBERON:0002245	82.13	gold quality
tendon of biceps brachii	UBERON:0008188	81.61	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.54	gold quality
cerebellum	UBERON:0002037	81.44	gold quality
vagina	UBERON:0000996	81.40	gold quality
tibial nerve	UBERON:0001323	81.22	gold quality
nasal cavity mucosa	UBERON:0001826	80.81	gold quality
jejunum	UBERON:0002115	80.46	gold quality
epithelial cell of pancreas	CL:0000083	79.84	gold quality
cardiac muscle of right atrium	UBERON:0003379	79.79	gold quality
left ventricle myocardium	UBERON:0006566	79.79	gold quality
intestine	UBERON:0000160	79.64	gold quality
gingival epithelium	UBERON:0001949	79.13	silver quality
nasal cavity epithelium	UBERON:0005384	78.84	gold quality
blood	UBERON:0000178	78.76	gold quality
caput epididymis	UBERON:0004358	78.19	gold quality
cauda epididymis	UBERON:0004360	78.04	gold quality
endocervix	UBERON:0000458	77.32	gold quality
minor salivary gland	UBERON:0001830	77.23	gold quality
colon	UBERON:0001155	77.21	gold quality
colonic mucosa	UBERON:0000317	77.19	gold quality
large intestine	UBERON:0000059	77.06	gold quality
mouth mucosa	UBERON:0003729	76.69	gold quality
cerebellar vermis	UBERON:0004720	76.66	gold quality
fallopian tube	UBERON:0003889	76.55	gold quality
rectum	UBERON:0001052	76.41	gold quality
quadriceps femoris	UBERON:0001377	76.28	gold quality
gingiva	UBERON:0001828	76.20	silver quality
saliva-secreting gland	UBERON:0001044	75.95	gold quality
mucosa of sigmoid colon	UBERON:0004993	75.50	gold quality
vastus lateralis	UBERON:0001379	75.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	75.03	gold quality
bronchial epithelial cell	CL:0002328	74.58	gold quality
right adrenal gland cortex	UBERON:0035827	74.32	gold quality
bronchus	UBERON:0002185	74.27	gold quality
left uterine tube	UBERON:0001303	74.14	gold quality
esophagus	UBERON:0001043	74.08	gold quality
bone marrow	UBERON:0002371	74.07	gold quality
left adrenal gland cortex	UBERON:0035825	73.59	gold quality
upper leg skin	UBERON:0004262	73.52	gold quality
adrenal cortex	UBERON:0001235	73.31	gold quality
adult organism	UBERON:0007023	73.27	gold quality
prostate gland	UBERON:0002367	73.18	gold quality
uterine cervix	UBERON:0000002	73.07	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	72.91	gold quality
right adrenal gland	UBERON:0001233	72.68	gold quality
left adrenal gland	UBERON:0001234	71.88	gold quality
vena cava	UBERON:0004087	71.47	gold quality
nipple	UBERON:0002030	71.20	silver quality
skin of hip	UBERON:0001554	71.14	silver quality
tonsil	UBERON:0002372	70.76	gold quality
esophagus squamous epithelium	UBERON:0006920	70.69	silver quality
trabecular bone tissue	UBERON:0002483	70.42	silver quality
pancreatic ductal cell	CL:0002079	70.21	silver quality
biceps brachii	UBERON:0001507	70.14	gold quality
ectocervix	UBERON:0012249	69.99	gold quality
thymus	UBERON:0002370	69.86	silver quality
medial globus pallidus	UBERON:0002477	69.80	gold quality
cartilage tissue	UBERON:0002418	69.76	gold quality
body of tongue	UBERON:0011876	69.52	silver quality
globus pallidus	UBERON:0001875	69.33	gold quality
monocyte	CL:0000576	69.30	gold quality
adrenal gland	UBERON:0002369	69.24	gold quality
oviduct epithelium	UBERON:0004804	69.13	gold quality
saphenous vein	UBERON:0007318	68.87	gold quality
secondary oocyte	CL:0000655	68.86	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	64.56
E-CURD-114	yes	11.36
E-ANND-3	yes	3.41

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 75 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Retina	tissue	109.8
Skin 1	tissue	87.0	not detected
Duodenum	tissue	85.6	high
Small intestine	tissue	84.5	high
Liver	tissue	79.1	medium
Testis	tissue	67.2	high
Pituitary gland	tissue	44.8
Epididymis	tissue	38.0	high
Kidney	tissue	35.1	high
Cervix	tissue	28.4	medium
Bone marrow	tissue	26.4	not detected
Parathyroid gland	tissue	25.3
Colon	tissue	23.1	high
Vagina	tissue	21.9	not detected
Fallopian tube	tissue	14.8	low
Esophagus	tissue	11.1	medium
Salivary gland	tissue	8.8	not detected
Rectum	tissue	6.4	high
Seminal vesicle	tissue	5.8	not detected
Prostate	tissue	4.1	not detected
Cerebellum	tissue	4.0	medium
Breast	tissue	3.8	not detected
Adrenal gland	tissue	3.1	medium
Nucleus accumbens	tissue	2.9
Stomach 1	tissue	2.5	medium
Appendix	tissue	2.5	medium
Endometrium 1	tissue	2.2	not detected
Locus coeruleus	tissue	1.9
Spinal cord	tissue	1.8
Lung	tissue	1.7	not detected
Hippocampus	tissue	1.5	low
Thymus	tissue	1.5
Tonsil	tissue	1.5	not detected
Choroid plexus	tissue	1.4
Medulla oblongata	tissue	1.4
Pancreas	tissue	1.1	not detected
Superior colliculi	tissue	1.0
Frontal cortex	tissue	0.9
Placenta	tissue	0.9	low
Postcentral gyrus	tissue	0.9
Skeletal muscle	tissue	0.8	not detected
Smooth muscle	tissue	0.8	not detected
Midbrain	tissue	0.8
Adipose tissue	tissue	0.6	not detected
Hypothalamus	tissue	0.6
Periaqueductal gray	tissue	0.5
Olfactory bulb	tissue	0.5
Cerebral cortex	tissue	0.4	medium
Urinary bladder	tissue	0.4	medium
Thalamus	tissue	0.4
Spleen	tissue	0.4	not detected
Somatosensory cortex	tissue	0.4
Occipital cortex	tissue	0.4
Motor cortex	tissue	0.3
Gallbladder	tissue	0.3	not detected
Hippocampal formation	tissue	0.3
Entorhinal cortex	tissue	0.3
Temporal cortex	tissue	0.3
Lymph node	tissue	0.2	not detected
Prefrontal cortex	tissue	0.2

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Cerebellar cortex (29.5), Flocculonodular lobe (26.1), Vermis (25.0), Nucleus rhomboideus (13.4), Habenula (6.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

showing 30 of 59 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4291	99.20	68.88	2969

Functional genomics

gnomAD constraint: pLI 7.27e-24, LOEUF 1.31, missense Z -1.09 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000645284 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:6,424,956–6,445,786	556 / 633.6	0.88	no
1:6,445,787–6,448,933	130 / 223.9	0.58	no
1:6,448,934–6,460,143	374 / 381.4	0.98	no

Literature-anchored findings (GeneRIF, showing 11)

• human deafness and vestibular dysfunction co-segregated with either of two frameshift mutations in ESPN. (PMID:15286153)
• The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function. (PMID:15930085)
• Here, we report a new activity of the espins, one that depends on their enigmatic WH2 domain: the ability to assemble a large actin bundle when targeted to a specific subcellular location. (PMID:16569662)
• A recessive ESPN mutation causing congenital hearing loss in a Morocan family was reported. (PMID:18973245)
• Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies (PMID:19102128)
• The espin actin-filament-binding site has a major effect on the formation and dynamics of actin bundles. (PMID:24424026)
• The structures of Myo3 in complex with Espin1 not only elucidate the mechanism of the binding, but also reveal a Myo3-induced release of Espin1 auto-inhibition mechanism. (PMID:26785147)
• The utricles were then treated with a gamma-secretase inhibitor, followed by espin or control transduction and histochemistry. Although gamma-secretase inhibition increased the number of HCs, few had stereociliary arrays. In contrast, 46 h after espin1 transduction, a significant increase in hair-bundle-like structures was observed (PMID:26886463)
• A significant inverse correlation was observed between miR-612 and Espin protein expression in melanoma tissues. (PMID:29385671)
• ur study uncovers an additional USH gene, assigns the USH1 phenotype to a variant of ESPN and provides a 12th molecular component to the USH proteome (PMID:29572253)
• whirlin-espin interaction is important for the architecture of the USH2 complex and actin bundles cross-linked by espin. Our demonstration of whirlin N-terminal fragment interaction with espin, is significantly novel, providing insight into how these two proteins interact to form the USH2 complex. (PMID:31638198)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	espn	ENSDARG00000076414
mus_musculus	Espn	ENSMUSG00000028943
rattus_norvegicus	Espn	ENSRNOG00000010270
drosophila_melanogaster	f	FBGN0262111
caenorhabditis_elegans		WBGENE00012319

Paralogs (1): ESPNL (ENSG00000144488)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1861630) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 56 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal organ of Corti morphology	2
deafness	2
head shaking	2
abnormal tectorial membrane morphology	2
cochlear hair cell degeneration	2
cochlear inner hair cell degeneration	2
cochlear outer hair cell degeneration	2
pillar cell degeneration	2
increased or absent threshold for auditory brainstem response	2
abnormal inner ear morphology	1
abnormal inner ear vestibule morphology	1
organ of Corti degeneration	1
abnormal stria vascularis morphology	1
tremors	1
abnormal nursing	1
abnormal stationary movement	1
abnormal locomotor behavior	1
circling	1
bidirectional circling	1
abnormal gait	1
decreased grooming behavior	1
impaired swimming	1
impaired balance	1
abnormal reflex	1
abnormal cochlear hair cell morphology	1

+31 more (showing top 25).

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
ACOT7	protein-coding	11332
HES2	protein-coding	54626
PLEKHG5	protein-coding	57449
TNFRSF25	protein-coding	8718
ZBTB48	protein-coding	3104
NOL9	protein-coding	79707
TAS1R1	protein-coding	80835
MIR4252	ncRNA	100422975
GPR153	protein-coding	387509
HES3	protein-coding	390992

Protein

Protein identifiers

Espin — B1AK53 (reviewed: B1AK53)

Alternative names: Autosomal recessive deafness type 36 protein, Ectoplasmic specialization protein

All UniProt accessions (12): A0A0J9YW00, A0A0J9YWQ8, A0A0J9YY76, A0A1B0GUN9, A0A1B0GUS9, A0A2R8Y6D3, A0A2R8Y7L7, A0A2R8YG57, B1AK53, H0Y7L4, K7EMB7, Q5JYL1

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.

Subunit / interactions. Monomer. Binds F-actin in a Ca(2+)-resistant fashion. Interacts (via N-terminus) with BAIAP2 (via SH3-domain). Interacts with PFN2. Interacts with MYO3A (via C-terminus). Interacts with MYO3B (via C-terminus).

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Stereocilium. Microvillus.

Disease relevance. Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. The disease is caused by variants affecting the gene represented in this entry. Usher syndrome 1M (USH1M) [MIM:618632] A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1M is an autosomal recessive disease characterized by prelingual sensorineural hearing loss, vestibular dysfunction, night blindness, and progressive impairment of vision. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. The WH2-domain binds actin monomer and mediates actin bundle assembly.

Isoforms (2)

UniProt ID	Names	Canonical?
B1AK53-1	1	yes
B1AK53-2	2

RefSeq proteins (3): NP_001354402, NP_001354403, NP_113663* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR003124	WH2_dom	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR052420	Espin/Espin-like	Family

Pfam: PF02205, PF12796, PF13637

UniProt features (49 total): compositionally biased region 10, repeat 9, sequence variant 8, modified residue 6, region of interest 5, sequence conflict 4, splice variant 2, mutagenesis site 2, chain 1, domain 1, coiled-coil region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B1AK53-F1	68.76	0.38

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes, Eye disease, Ear disease

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): vesicles

Antibody reliability (HPA): IH enhanced · IF approved

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 (6)

Type	Positions
Phosphoserine	338, 342, 515, 647, 690, 696

Mutagenesis-validated functional residues (2)

Position	Phenotype
790–795	no effect on localization to microvilli. no effect on microvillar elongation.
790–795	loss of targeting to microvilli. impaired microvillar elongation.

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-9709957	Sensory Perception	—
R-HSA-9659379	Sensory processing of sound	—
R-HSA-9662360	Sensory processing of sound by inner hair cells of the cochlea	electronic
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea	electronic

MSigDB gene sets: 211 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, BENPORATH_ES_WITH_H3K27ME3, MODULE_255, RORA1_01, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, MODULE_317, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_SENSORY_PERCEPTION, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOMF_ACTIN_BINDING, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_MICROVILLUS_ORGANIZATION, WONG_ENDMETRIUM_CANCER_UP

GO Biological Process (3): sensory perception of sound (GO:0007605), microvillar actin bundle assembly (GO:0030034), actin filament bundle assembly (GO:0051017)

GO Molecular Function (4): SH3 domain binding (GO:0017124), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (10): cytoplasm (GO:0005737), microvillus (GO:0005902), brush border (GO:0005903), filamentous actin (GO:0031941), stereocilium (GO:0032420), stereocilium tip (GO:0032426), cytoskeleton (GO:0005856), organelle (GO:0043226), actin-based cell projection (GO:0098858), cluster of actin-based cell projections (GO:0098862)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Sensory processing of sound	2
Sensory Perception	1

GO top-level categories

25 GO namespaces:

Category	Terms
cellular anatomical structure	4
actin-based cell projection	3
sensory perception of mechanical stimulus	1
microvillus assembly	1
parallel actin filament bundle assembly	1
cellular component assembly	1
actin filament bundle organization	1
protein domain specific binding	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
actin filament bundle	1
microvillus	1
apical part of cell	1
cluster of actin-based cell projections	1
actin filament	1
protein-containing complex	1
stereocilium bundle	1
neuron projection	1
stereocilium	1
intracellular membraneless organelle	1
actin cytoskeleton	1
plasma membrane bounded cell projection	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 17 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
microvillar actin bundle assembly	BP	mutant phenotype
microvillus	CC	direct assay
stereocilium	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 914 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ESPN	FSCN1	Q16658	917
ESPN	GJB2	P29033	836
ESPN	WHRN	Q9P202	804
ESPN	MYO15A	Q9UKN7	778
ESPN	MYO7A	P78427	725
ESPN	MYO3A	Q8NEV4	723
ESPN	E9PNW1	E9PNW1	716
ESPN	PCDH15	Q96QU1	694
ESPN	PLS1	Q14651	691
ESPN	STRC	Q7RTU9	683
ESPN	EPS8	Q12929	673
ESPN	EPS8L2	Q9H6S3	668
ESPN	CDH23	Q9H251	646
ESPN	MYO3B	Q8WXR4	636
ESPN	TRIOBP	Q9H2D6	631

IntAct

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

5 partners by confidence:

Partner	Interaction type	MIscore	Records
CTSC	association	0.350	2
BAIAP2	association	0.350	1
DNAI1	association	0.350	1
PNKD	association	0.350	1
RAB37	association	0.350	1

BioGRID (18 interactions; top human partners by supporting records): BAIAP2 (Affinity Capture-MS; 2 records), BAIAP2L1 (Affinity Capture-MS), C17orf70 (Affinity Capture-MS), CTSC (Affinity Capture-MS), DBN1 (Cross-Linking-MS (XL-MS)), DDX24 (Affinity Capture-MS), DDX58 (Affinity Capture-RNA), DNAI1 (Affinity Capture-MS), FAM98A (Affinity Capture-MS), HNRNPL (Affinity Capture-RNA), METTL21B (Affinity Capture-MS), PNKD (Affinity Capture-MS), PRMT2 (Affinity Capture-MS), RAB37 (Affinity Capture-MS), SNRNP40 (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for ESPN: 699 ClinVar records (36 pathogenic / likely pathogenic); 3 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	22
Uncertain significance	336
Likely benign	221
Benign	39

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 36 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
450999	NM_031475.3(ESPN):c.1464+1G>A	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
560535	NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)	Pathogenic	criteria provided, single submitter	2
594412	NM_031475.3(ESPN):c.264G>A (p.Trp88Ter)	Pathogenic	criteria provided, single submitter	1
984702	NM_031475.3(ESPN):c.1916-1G>C	Pathogenic	criteria provided, single submitter	1
1299307	NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs)	Pathogenic	criteria provided, single submitter	1
2445633	NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)	Pathogenic	criteria provided, single submitter	1
2572469	NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)	Pathogenic	criteria provided, single submitter	1
3601083	NM_031475.3(ESPN):c.1916-1G>A	Pathogenic	criteria provided, single submitter	1
3601084	NM_031475.3(ESPN):c.1995_2056del (p.Lys666fs)	Pathogenic	criteria provided, single submitter	1
4291998	NM_031475.3(ESPN):c.489-2A>G	Pathogenic	criteria provided, single submitter	1
4934024	NM_031475.3(ESPN):c.2254_2275del (p.Glu752fs)	Pathogenic	criteria provided, single submitter	1
4420	NM_031475.3(ESPN):c.2155A>C (p.Ser719Arg)	Likely pathogenic	criteria provided, single submitter	2
4423	NM_031475.3(ESPN):c.2539AAG[1] (p.Lys848del)	Likely pathogenic	criteria provided, single submitter	2
452503	NM_031475.3(ESPN):c.292C>T (p.Gln98Ter)	Likely pathogenic	criteria provided, single submitter	1
623132	NM_031475.3(ESPN):c.2446G>T (p.Glu816Ter)	Likely pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore ESPN’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; 35 predictions of 1,571):

Position(s)	Effect	Δscore	Sites
1:6425250–6425251	donor_loss	1.0000	4
1:6428416	donor_gain	1.0000
1:6440252–6440253	acceptor_loss	1.0000	4
1:6440614	acceptor_gain	1.0000
1:6440809–6440810	donor_loss	1.0000	5
1:6440932–6440933	acceptor_loss	1.0000	3
1:6441066–6441067	donor_loss	1.0000	5
1:6448639–6448640	acceptor_loss	1.0000	5
1:6448803–6448804	donor_loss	1.0000	3
1:6451601–6451602	acceptor_loss	1.0000	4

AlphaMissense

1,501 missense substitutions predicted likely pathogenic (of 5,490 scored), across 408 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
M645	9	0.862	0.982
M207	9	0.848	0.967
D278	8	0.973	0.988
D101	8	0.964	0.990
D76	8	0.963	0.976
D302	8	0.958	0.983
D269	8	0.953	0.982
H245	8	0.934	0.973
F643	8	0.934	0.995
D237	8	0.930	0.983
D744	8	0.926	0.982
H277	8	0.922	0.978
D33	8	0.911	0.940
H75	8	0.905	0.957
N282	8	0.904	0.983
H41	8	0.899	0.963
H109	8	0.890	0.975
H143	8	0.873	0.953
H211	8	0.838	0.951
S249	8	0.827	0.992

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	2.97e-05
Kidney Renal Clear Cell Carcinoma (validation)	favorable	6.16e-05

Disease associations

OMIM: gene MIM:606351 | disease phenotypes: MIM:609006, MIM:621556, MIM:618632, MIM:220290, MIM:607197

GenCC curated gene-disease

5 curated gene-disease records:

Disease	Classification	Inheritance	Records
autosomal recessive nonsyndromic hearing loss 36	Definitive	Autosomal recessive	4
nonsyndromic genetic hearing loss	Definitive	Autosomal recessive	4
Usher syndrome type 1	Supportive	Autosomal recessive
hearing loss, autosomal recessive	Supportive	Autosomal recessive
Usher syndrome, type 1M	Limited	Unknown	2

ClinGen Gene-Disease Validity

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

2 validity classifications:

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Definitive	AR
nonsyndromic genetic hearing loss	Limited	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (3 panels, 2 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

3 panels:

Panel	Rating
Monogenic hearing loss	green
Paediatric disorders	green
Retinal disorders	amber

Mondo (7): autosomal recessive nonsyndromic hearing loss 36 (MONDO:0012170), inherited retinal dystrophy (MONDO:0019118), autosomal dominant nonsyndromic hearing loss 91 (MONDO:0981166), Usher syndrome, type 1M (MONDO:0032841), Usher syndrome type 1 (MONDO:0010168), hearing loss, autosomal recessive (MONDO:0019588), nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (6): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Rare genetic deafness (Orphanet:96210), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Usher syndrome type 1 (Orphanet:231169), Usher syndrome (Orphanet:886), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635)

HPO phenotypes

26 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000375	Abnormal cochlea morphology
HP:0000399	Prelingual sensorineural hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000543	Optic disc pallor
HP:0000572	Visual loss
HP:0000575	Scotoma
HP:0000662	Nyctalopia
HP:0000716	Depression
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0001270	Motor delay
HP:0001712	Left ventricular hypertrophy
HP:0001751	Abnormal vestibular function
HP:0002141	Gait imbalance
HP:0003596	Middle age onset
HP:0007663	Reduced visual acuity
HP:0007994	Peripheral visual field loss
HP:0008568	Vestibular areflexia
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0011510	Drusen

GWAS associations

3 associations:

Study	Trait	p-value
GCST009597_120	Multiple sclerosis	9e-17
GCST005116_11	Male-pattern baldness	8e-10
GCST010151_8	Carotid intima media thickness x smoking interaction	6e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0006527	smoking status measurement

MeSH disease descriptors

4 disease descriptors:

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658
C564609	Deafness, Autosomal Recessive *(supp.)*
C563815	Deafness, Autosomal Recessive 36 *(supp.)*
C580334	Nonsyndromic Deafness *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases methylation, decreases expression	4
Genistein	affects cotreatment, decreases expression, increases expression	4
bisphenol A	affects expression, increases expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Estradiol	affects cotreatment, decreases expression, increases expression	3
sodium arsenite	increases expression, decreases expression	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	increases expression	1
daidzein	decreases expression, affects cotreatment	1
methyleugenol	decreases expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	decreases methylation	1
glycitein	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
licochalcone B	increases expression	1
Rosiglitazone	decreases expression	1
Acetaminophen	decreases expression	1
Caffeine	increases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diethylnitrosamine	decreases expression	1
Diethylstilbestrol	increases expression	1
Endosulfan	increases expression	1
Folic Acid	decreases expression	1
Lead	affects expression	1

Clinical trials (associated diseases)

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

showing 60 of 146 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
NCT01655212	Phase 3	TERMINATED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial
NCT02005822	Phase 3	COMPLETED	Congenital Cytomegalovirus: Efficacy of Antiviral Treatment
NCT03374514	Phase 3	UNKNOWN	Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery
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]
NCT02497690	Phase 2	COMPLETED	Effectiveness of Therapy Via Telemedicine Following Cochlear Implants
NCT03107871	Phase 2	TERMINATED	Randomized Controlled Trial of Valganciclovir for Cytomegalovirus Infected Hearing Impaired Infants
NCT04120116	Phase 2	COMPLETED	FX-322 in Adults With Stable Sensorineural Hearing Loss
NCT05061758	Phase 2	WITHDRAWN	A Trial of LY3056480 in Patients With SNLH
NCT07364747	Phase 2	RECRUITING	Protective Effect of Acetylcysteine Against Cisplatinum-Induced Ototoxicity: A Randomized Controlled Trial
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)
NCT01064505	Phase 1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	Phase 1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT02038972	Phase 1	COMPLETED	Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss
NCT02259595	Phase 1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations
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
NCT02882477	Phase 2/3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01834079	Phase 1/2	UNKNOWN	Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease
NCT04680143	Phase 1/2	COMPLETED	Systemic Erythropoietin Injection in Patients Having Optic Atrophy
NCT03011541	Not specified	RECRUITING	Stem Cell Ophthalmology Treatment Study II
NCT04580979	Not specified	COMPLETED	Natural History Study of FDXR Mutation-related Mitochondriopathy
NCT04594590	Not specified	COMPLETED	Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
NCT04723160	Not specified	COMPLETED	Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph