KCNA4

Summary

KCNA4 (potassium voltage-gated channel subfamily A member 4, HGNC:6222) is a protein-coding gene on chromosome 11p14.1, encoding Potassium voltage-gated channel subfamily A member 4 (P22459). Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes.

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.

Source: NCBI Gene 3739 — RefSeq curated summary.

At a glance

• Gene–disease (curated): non-spherocytic hemolytic anemia due to hexokinase deficiency (Strong, GenCC) — +5 more curated relationships
• GWAS associations: 64
• Clinical variants (ClinVar): 937 total — 11 pathogenic, 22 likely-pathogenic
• Phenotypes (HPO): 113
• Druggable target: yes
• MANE Select transcript: NM_002233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6222
Approved symbol	KCNA4
Name	potassium voltage-gated channel subfamily A member 4
Location	11p14.1
Locus type	gene with protein product
Status	Approved
Aliases	Kv1.4, HK1, HPCN2, PCN2
Ensembl gene	ENSG00000182255
Ensembl biotype	protein_coding
OMIM	176266
Entrez	3739

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328224, ENST00000526518, ENST00000953053, ENST00000953054, ENST00000953055

RefSeq mRNA: 1 — MANE Select: NM_002233 NM_002233

CCDS: CCDS41629

Canonical transcript exons

ENST00000328224 — 2 exons

Exon	Start	End
ENSE00001312573	30009730	30013460
ENSE00001480049	30016572	30017030

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 84.15.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4502 / max 149.4223, expressed in 236 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119104	1.4195	236
119103	0.0215	10
119102	0.0092	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	84.15	gold quality
nucleus accumbens	UBERON:0001882	76.81	gold quality
secondary oocyte	CL:0000655	76.09	gold quality
caudate nucleus	UBERON:0001873	72.83	gold quality
left adrenal gland cortex	UBERON:0035825	71.73	gold quality
adrenal gland	UBERON:0002369	71.64	gold quality
putamen	UBERON:0001874	71.28	gold quality
left adrenal gland	UBERON:0001234	71.24	gold quality
adrenal cortex	UBERON:0001235	70.85	gold quality
prefrontal cortex	UBERON:0000451	70.65	gold quality
right adrenal gland	UBERON:0001233	70.31	gold quality
right adrenal gland cortex	UBERON:0035827	70.13	gold quality
ventricular zone	UBERON:0003053	69.91	gold quality
orbitofrontal cortex	UBERON:0004167	69.90	gold quality
cortical plate	UBERON:0005343	68.82	gold quality
triceps brachii	UBERON:0001509	68.70	gold quality
gluteal muscle	UBERON:0002000	68.60	gold quality
paraflocculus	UBERON:0005351	66.92	gold quality
middle frontal gyrus	UBERON:0002702	66.91	gold quality
germinal epithelium of ovary	UBERON:0001304	66.90	gold quality
telencephalon	UBERON:0001893	66.64	gold quality
frontal pole	UBERON:0002795	66.52	gold quality
frontal cortex	UBERON:0001870	66.39	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	66.23	gold quality
endothelial cell	CL:0000115	65.91	gold quality
endometrium epithelium	UBERON:0004811	65.89	silver quality
cervix squamous epithelium	UBERON:0006922	65.71	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.69	gold quality
neocortex	UBERON:0001950	65.60	gold quality
forebrain	UBERON:0001890	65.46	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.11

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB

miRNA regulators (miRDB)

130 targeting KCNA4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 16)

• N-type inactivation in hKv1.4 is regulated by pH(i) in the physiologic range through ionization of specific amino acid residues in the ball domain. (PMID:12065763)
• Results describe an erbstatin (Erb) analogue as a small molecule inhibitor of the N-type inactivation in potassium channels Kv1.4 and Kv1.1+Kvbeta1. (PMID:15136567)
• Novel role for GIP in regulating K(V)1.4 cell surface expression and modulation of A-type potassium currents (PMID:15955806)
• Fast inactivation in human Kv1.4 is modulated by structural elements in the C-terminus, suggesting that the process involves the concerted action of the N- and C-termini. (PMID:16308273)
• The results demonstrate that the human Kvbeta1.1 and Kvbeta1.2 subunits regulate the proportion of wild-type Kv1.4-1.1 channels that are available to open. (PMID:17156368)
• Ginsenoside Rg3 inhibits KV1.4 channel currents by interacting with the lysine531 residue. (PMID:17959711)
• Thr-330 of Kv1.4 serves to interlock the voltage-sensing and gating domains of adjacent monomers, thereby yielding a structure competent for the surface expression of functional tetramers (PMID:18640987)
• Both arachidonic acid and Trolox potently modulate Kv1.4 and Kv4.2 channel alpha-subunits, thereby presumably tuning presynaptic transmitter release and postsynaptic somatodendritic excitability in synaptic transmission and plasticity. (PMID:19453640)
• Sialylated N-glycans uniquely impact gating of a mammalian Shaker family K(v) channel isoform, K(v)1.5, but have no effect on gating of a second Shaker isoform, K(v)1.4. (PMID:19961828)
• Data suggest that episodic ataxia type 1 mutations affect fast inactivation of Kv1.1/1.4 channels by a reduction in either subunit surface expression or altered affinity for the inactivation domain. (PMID:21307345)
• Detection of the methylation prevalence of KCNA4 and CYP26B1 together in serum demonstrated the good sensitivity and specificityin gastric cancer (PMID:21945024)
• Expression of Kv1.4 appears to increase in the spinal cord of mice modelling remitting-relapsing experimental allergic encephalomyelitis (rrEAE) in peak and remitting phases. (PMID:22560931)
• statistically significant association between the KCNA4 rs1323860 C/T transition and endurance running performance level (PMID:30812034)
• Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH. (PMID:34038243)
• An epilepsy-associated KV1.2 charge-transfer-center mutation impairs KV1.2 and KV1.4 trafficking. (PMID:35439054)
• miR-448 regulates potassium voltage-gated channel subfamily A member 4 (KCNA4) in ischemia and heart failure. (PMID:36693615)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcna4	ENSDARG00000078650
mus_musculus	Kcna4	ENSMUSG00000042604
rattus_norvegicus	Kcna4	ENSRNOG00000004918

Paralogs (31): KCNG1 (ENSG00000026559), KCNQ1 (ENSG00000053918), KCNQ2 (ENSG00000075043), KCND1 (ENSG00000102057), KCNA7 (ENSG00000104848), KCNA1 (ENSG00000111262), KCNC4 (ENSG00000116396), KCNQ4 (ENSG00000117013), KCNS1 (ENSG00000124134), KCNC1 (ENSG00000129159), KCNA5 (ENSG00000130037), KCNC3 (ENSG00000131398), KCNA10 (ENSG00000143105), KCNA6 (ENSG00000151079), KCNS2 (ENSG00000156486), KCNB1 (ENSG00000158445), KCNF1 (ENSG00000162975), KCNV1 (ENSG00000164794), KCNC2 (ENSG00000166006), KCNV2 (ENSG00000168263), KCNG4 (ENSG00000168418), KCNS3 (ENSG00000170745), KCNG3 (ENSG00000171126), KCND3 (ENSG00000171385), KCNA3 (ENSG00000177272), KCNA2 (ENSG00000177301), KCNG2 (ENSG00000178342), KCNB2 (ENSG00000182674), KCNQ3 (ENSG00000184156), KCND2 (ENSG00000184408), KCNQ5 (ENSG00000185760)

Protein

Protein identifiers

Potassium voltage-gated channel subfamily A member 4 — P22459 (reviewed: P22459)

Alternative names: HPCN2, Voltage-gated K(+) channel HuKII, Voltage-gated potassium channel HBK4, Voltage-gated potassium channel HK1, Voltage-gated potassium channel subunit Kv1.4

All UniProt accessions (1): P22459

UniProt curated annotations — full annotation on UniProt →

Function. Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA4 forms a potassium channel that opens in response to membrane depolarization, followed by rapid spontaneous channel closure. Likewise, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation.

Subunit / interactions. Homotetramer and heterotetramer of potassium channel proteins. Interacts with KCNAB1 and KCNAB2. Interacts with DLG1, DLG2 and DLG4 via their PDZ domains. Interacts with SIGMAR1. Detected in a complex with KCNA1. Interacts with KCNA2. Part of a complex containing KCNA1, KCNAB1 and LGI1. Interacts (via cytoplasmic N-terminal domain) with KCNRG.

Subcellular location. Cell membrane. Cell projection. Axon.

Tissue specificity. Expressed in brain, and at lower levels in the testis, lung, kidney, colon and heart. Detected in heart ventricle.

Disease relevance. Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS) [MIM:618284] An autosomal recessive syndrome characterized by cognitive impairment, attention deficit-hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. The disease may be caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by 4-aminopyridine (4-AP), but not by tetraethylammonium (TEA) and charybdotoxin (CTX).

Domain organisation. The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments. The transmembrane segment S4 functions as a voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.

Similarity. Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.4/KCNA4 sub-subfamily.

RefSeq proteins (1): NP_002224* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR003131	T1-type_BTB	Domain
IPR003968	K_chnl_volt-dep_Kv	Family
IPR003972	K_chnl_volt-dep_Kv1	Family
IPR005821	Ion_trans_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR012897	K_chnl_volt-dep_Kv1.4_TID	Domain
IPR020467	K_chnl_volt-dep_Kv1.4	Family
IPR027359	Volt_channel_dom_sf	Homologous_superfamily
IPR028325	VG_K_chnl	Family
IPR037065	K_chnl_volt-dep_Kv1.4_TID_sf	Homologous_superfamily

Pfam: PF00520, PF02214, PF07941

Catalyzed reactions (Rhea), 1 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (37 total): topological domain 8, transmembrane region 6, sequence conflict 6, compositionally biased region 4, region of interest 3, modified residue 3, intramembrane region 2, short sequence motif 2, chain 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P22459-F1	70.48	0.42

Functional residue map

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

Post-translational modifications (3): 90, 122, 599

Glycosylation sites (1): 352

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-1296072	Voltage gated Potassium channels
R-HSA-112316	Neuronal System
R-HSA-1296071	Potassium Channels

MSigDB gene sets: 710 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_POTASSIUM_ION_TRANSPORT, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, HARRIS_HYPOXIA, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, GOBP_INFLAMMATORY_RESPONSE, REACTOME_POTASSIUM_CHANNELS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOZGIT_ESR1_TARGETS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_PHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION

GO Biological Process (8): action potential (GO:0001508), potassium ion transport (GO:0006813), protein homooligomerization (GO:0051260), potassium ion transmembrane transport (GO:0071805), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085), regulation of presynaptic membrane potential (GO:0099505)

GO Molecular Function (7): voltage-gated potassium channel activity (GO:0005249), delayed rectifier potassium channel activity (GO:0005251), potassium ion binding (GO:0030955), voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential (GO:0099508), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (8): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), axon (GO:0030424), axon initial segment (GO:0043194), dendritic spine (GO:0043197), monoatomic ion channel complex (GO:0034702), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Potassium Channels	1
Neuronal System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of membrane potential	2
transport	2
metal ion transport	1
protein complex oligomerization	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
monoatomic ion transport	1
transmembrane transport	1
cellular process	1
potassium channel activity	1
voltage-gated monoatomic cation channel activity	1
voltage-gated potassium channel activity	1
alkali metal ion binding	1
voltage-gated monoatomic ion channel activity	1
presynaptic membrane	1
regulation of presynaptic membrane potential	1
monoatomic ion transmembrane transporter activity	1
channel activity	1
monoatomic cation channel activity	1
potassium ion transmembrane transporter activity	1
binding	1
membrane	1
cell periphery	1
potassium channel complex	1
plasma membrane protein complex	1
neuron projection	1
main axon	1
dendrite	1
neuron spine	1
postsynapse	1
transmembrane transporter complex	1

Protein interactions and networks

STRING

2084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNA4	DLG4	P78352	976
KCNA4	KCNA1	Q09470	969
KCNA4	KCNAB2	Q13303	962
KCNA4	KCNAB1	Q14722	962
KCNA4	KCNA2	P16389	960
KCNA4	SIGMAR1	Q99720	913
KCNA4	KCNIP2	Q9NS61	902
KCNA4	KCNAB3	O43448	897
KCNA4	DLG2	Q15700	853
KCNA4	DLGAP1	P78335	757
KCNA4	KCNH6	Q9H252	742
KCNA4	ACTN2	P35609	711
KCNA4	KCNH2	Q12809	708
KCNA4	KCND3	Q9UK17	691
KCNA4	SCN5A	Q14524	660

IntAct

141 interactions, top by confidence:

A	B	Type	Score
DLG1	KCNA4	psi-mi:“MI:0915”(physical association)	0.790
KCNA4	DLG1	psi-mi:“MI:0407”(direct interaction)	0.790
DLG1	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.790
Dlg4	KCNA4	psi-mi:“MI:0915”(physical association)	0.680
KCNA4	DLG4	psi-mi:“MI:0407”(direct interaction)	0.680
Dlg4	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.680
DLG4	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.680
SAT1	KCNA4	psi-mi:“MI:0915”(physical association)	0.670
DLG3	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.590
KCNA4	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.590
KCNA4	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.590
KCNA4	DLG3	psi-mi:“MI:0407”(direct interaction)	0.590
KCNA4	CASK	psi-mi:“MI:0407”(direct interaction)	0.590
MPP7	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.590
KCNA4	Dlg3	psi-mi:“MI:0407”(direct interaction)	0.560
KCNA4	ACTN2	psi-mi:“MI:0915”(physical association)	0.530
ACTN2	KCNA4	psi-mi:“MI:0407”(direct interaction)	0.530
KCNA4	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (86): DLG1 (Two-hybrid), KCNA4 (Two-hybrid), KCNA4 (Two-hybrid), KCNA4 (Two-hybrid), DLG4 (Affinity Capture-Western), DLG2 (Affinity Capture-Western), DLG1 (Affinity Capture-Western), KCNA4 (Reconstituted Complex), KCNA4 (Affinity Capture-Western), KCNA4 (Affinity Capture-Western), KCNA4 (Affinity Capture-Western), KCNA2 (Affinity Capture-Western), KCNA1 (Affinity Capture-Western), DLG4 (Reconstituted Complex), DLG4 (Two-hybrid)

ESM2 similar proteins: A1Z8N1, B0UYF2, B3MG58, B3NSE1, B4GAP7, B4HNS0, B4J913, B4KR05, B4LPX5, B4MYA4, B4P624, B4QBN2, D4AYW0, O18868, O18965, O95259, P15385, P22459, P22462, P27448, P57789, Q02280, Q03141, Q05037, Q0P5V9, Q14721, Q14B80, Q17NV8, Q28527, Q291H8, Q2KNE5, Q5BKX6, Q60603, Q61423, Q63472, Q7PIR5, Q8BUW1, Q8IRI6, Q8NCM2, Q920E3

Diamond homologs: A2BDX4, A4K2M4, A4K2N8, A4K2P6, A4K2Q6, A4K2R3, A4K2S2, A4K2T1, A4K2V2, A4K2W6, A4K2X4, A4K2Y2, A6H8H5, D4AD53, D4ADX7, G5EFC3, O18868, O35173, O35174, O73606, O88758, O88759, P10499, P15384, P15385, P15387, P15388, P16388, P16390, P17970, P17971, P17972, P22001, P22459, P22739, P25122, P48547, P59053, P59994, P59995

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
PKA	“down-regulates activity”	KCNA4	phosphorylation
PKA	“down-regulates quantity by destabilization”	KCNA4	phosphorylation
LNX1	“down-regulates quantity by destabilization”	KCNA4	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 86 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
Ras activation upon Ca2+ influx through NMDA receptor	5	51.0×	2e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	48.5×	2e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	48.5×	2e-06
Assembly and cell surface presentation of NMDA receptors	10	45.3×	1e-12
Dopamine Neurotransmitter Release Cycle	5	44.3×	3e-06
Long-term potentiation	5	42.5×	3e-06
Neurexins and neuroligins	11	38.7×	7e-13
Protein-protein interactions at synapses	7	33.2×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	73.6×	3e-14
protein localization to synapse	6	58.2×	1e-07
receptor clustering	6	47.4×	2e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	7	43.9×	5e-08
cell-cell adhesion	9	11.6×	6e-06
protein-containing complex assembly	8	11.5×	3e-05
chemical synaptic transmission	7	6.8×	2e-03
protein transport	8	4.4×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	22
Uncertain significance	501
Likely benign	303
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1417253	NM_000188.3(HK1):c.1907_1910del (p.Thr635_Leu636insTer)	Pathogenic
1442714	NM_000188.3(HK1):c.2380C>T (p.Arg794Ter)	Pathogenic
14915	NM_000188.3(HK1):c.497_591+1del	Pathogenic
14916	NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)	Pathogenic
2038014	NM_000188.3(HK1):c.267del (p.Arg91fs)	Pathogenic
2115913	NM_000188.3(HK1):c.442_473dup (p.Gln159fs)	Pathogenic
2664015	NM_000188.3(HK1):c.991C>T (p.Arg331Ter)	Pathogenic
3608703	NM_000188.3(HK1):c.919C>T (p.Arg307Ter)	Pathogenic
4766093	NM_000188.3(HK1):c.2305C>T (p.Arg769Ter)	Pathogenic
55851	NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)	Pathogenic
855341	NM_000188.3(HK1):c.1456del (p.Glu486fs)	Pathogenic
1320105	NM_000188.3(HK1):c.796G>A (p.Asp266Asn)	Likely pathogenic
1465743	NM_000188.3(HK1):c.1240G>C (p.Gly414Arg)	Likely pathogenic
1685345	NM_001358263.1(HK1):c.1A>T (p.Met1Leu)	Likely pathogenic
2024756	NM_000188.3(HK1):c.226+2T>A	Likely pathogenic
2105231	NM_000188.3(HK1):c.691+1G>A	Likely pathogenic
2422554	NC_000010.10:g.(?71103563)(71103765_?)dup	Likely pathogenic
2506469	NM_000188.3(HK1):c.1370C>A (p.Thr457Lys)	Likely pathogenic
2581721	NM_000188.3(HK1):c.613del (p.Ala205fs)	Likely pathogenic
3028181	NM_000188.3(HK1):c.409T>A (p.Phe137Ile)	Likely pathogenic
3544385	NM_000188.3(HK1):c.1370C>G (p.Thr457Arg)	Likely pathogenic
4057299	NM_001358263.1(HK1):c.2T>C (p.Met1Thr)	Likely pathogenic
4081443	NM_000188.3(HK1):c.891dup (p.Ser298fs)	Likely pathogenic
4532805	Single allele	Likely pathogenic
4687917	NM_000188.3(HK1):c.1542del (p.Phe515fs)	Likely pathogenic
4718497	NM_000188.3(HK1):c.876-2A>T	Likely pathogenic
4755525	NM_000188.3(HK1):c.2354A>T (p.Lys785Met)	Likely pathogenic
4823068	NM_000188.3(HK1):c.226+4919T>G	Likely pathogenic
4845902	NM_000188.3(HK1):c.1114C>T (p.Gln372Ter)	Likely pathogenic
599646	NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	Likely pathogenic

SpliceAI

400 predictions. Top by Δscore:

Variant	Effect	Δscore
11:30016568:TTA:T	donor_loss	0.9800
11:30016571:CCGTT:C	donor_gain	0.9800
11:30016570:A:AC	donor_gain	0.9700
11:30016570:AC:A	donor_gain	0.9700
11:30016571:C:CC	donor_gain	0.9700
11:30016571:CC:C	donor_gain	0.9700
11:30015922:ACC:A	donor_gain	0.9600
11:30015923:CCC:C	donor_gain	0.9600
11:30016571:CCG:C	donor_gain	0.9500
11:30016571:CCGT:C	donor_gain	0.9400
11:30013461:C:CA	acceptor_loss	0.9300
11:30016566:A:AC	donor_gain	0.9200
11:30016567:C:CC	donor_gain	0.9200
11:30014612:CA:C	donor_gain	0.9000
11:30014612:CACTT:C	donor_gain	0.9000
11:30016566:ACTT:A	donor_loss	0.8900
11:30014607:T:TA	donor_gain	0.8800
11:30014616:T:TA	donor_gain	0.8800
11:30013472:T:TC	acceptor_gain	0.8700
11:30012707:CAGT:C	acceptor_gain	0.8400
11:30013461:C:CC	acceptor_gain	0.8400
11:30016930:A:AC	donor_gain	0.8400
11:30016058:C:CT	donor_gain	0.8300
11:30014685:T:TA	donor_gain	0.8200
11:30013484:A:C	acceptor_gain	0.8100
11:30015918:T:TA	donor_gain	0.8000
11:30013458:CAC:C	acceptor_gain	0.7800
11:30014603:ACAAT:A	donor_gain	0.7800
11:30014604:CAAT:C	donor_gain	0.7800
11:30014604:CAATC:C	donor_gain	0.7800

AlphaMissense

4332 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:30010980:A:C	Y567D	1.000
11:30010981:G:C	F566L	1.000
11:30010981:G:T	F566L	1.000
11:30010982:A:G	F566S	1.000
11:30010983:A:G	F566L	1.000
11:30010990:A:C	F563L	1.000
11:30010990:A:T	F563L	1.000
11:30010991:A:C	F563C	1.000
11:30010991:A:G	F563S	1.000
11:30010992:A:C	F563V	1.000
11:30010992:A:G	F563L	1.000
11:30010992:A:T	F563I	1.000
11:30010993:G:C	N562K	1.000
11:30010993:G:T	N562K	1.000
11:30010994:T:A	N562I	1.000
11:30010995:T:C	N562D	1.000
11:30010997:G:A	S561F	1.000
11:30010998:A:G	S561P	1.000
11:30011000:A:G	V560A	1.000
11:30011000:A:T	V560D	1.000
11:30011001:C:G	V560L	1.000
11:30011003:A:C	I559S	1.000
11:30011003:A:T	I559N	1.000
11:30011006:A:T	V558E	1.000
11:30011009:G:C	P557R	1.000
11:30011009:G:T	P557Q	1.000
11:30011010:G:A	P557S	1.000
11:30011012:A:G	V556A	1.000
11:30011012:A:T	V556E	1.000
11:30011015:G:C	P555R	1.000

dbSNP variants (sampled 300 via entrez): RS1000523863 (11:30016095 A>C,G), RS1000564900 (11:30015797 A>C), RS1000761055 (11:30010361 T>C), RS1000988922 (11:30017504 GC>G), RS1001377260 (11:30014718 C>A), RS1001614858 (11:30012511 A>C), RS1002020752 (11:30015322 C>T), RS1002888016 (11:30013066 A>G), RS1003021951 (11:30013472 T>C), RS1003894683 (11:30011841 C>T), RS1004376850 (11:30016466 C>G,T), RS1004653038 (11:30009514 T>C), RS1004812392 (11:30016199 A>G), RS1005171397 (11:30017124 A>G), RS1005330567 (11:30013651 T>C)

Disease associations

OMIM: gene MIM:176266 | disease phenotypes: MIM:605285, MIM:618547, MIM:618284, MIM:235700, MIM:617460, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
non-spherocytic hemolytic anemia due to hexokinase deficiency	Strong	Autosomal recessive
Charcot-Marie-Tooth disease type 4G	Strong	Autosomal recessive
retinitis pigmentosa 79	Strong	Autosomal dominant
neurodevelopmental disorder with visual defects and brain anomalies	Strong	Autosomal dominant
hyperinsulinism	Strong	Autosomal dominant
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	Limited	Autosomal recessive

Mondo (10): Charcot-Marie-Tooth disease type 4G (MONDO:0011534), neurodevelopmental disorder with visual defects and brain anomalies (MONDO:0032807), inherited retinal dystrophy (MONDO:0019118), microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MONDO:0032656), non-spherocytic hemolytic anemia due to hexokinase deficiency (MONDO:0009340), retinitis pigmentosa 79 (MONDO:0044320), neurodevelopmental disorder (MONDO:0700092), retinitis pigmentosa (MONDO:0019200), autism spectrum disorder (MONDO:0005258), hyperinsulinism (MONDO:0002177)

Orphanet (5): Charcot-Marie-Tooth disease type 4G (Orphanet:99953), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Non-spherocytic hemolytic anemia due to hexokinase deficiency (Orphanet:90031), Retinitis pigmentosa (Orphanet:791), NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

113 total (30 of 113 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000365	Hearing impairment
HP:0000414	Bulbous nose
HP:0000463	Anteverted nares
HP:0000473	Torticollis
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000519	Developmental cataract
HP:0000543	Optic disc pallor
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000687	Widely spaced teeth
HP:0000750	Delayed speech and language development
HP:0000952	Jaundice
HP:0001081	Cholelithiasis
HP:0001082	Cholecystitis
HP:0001133	Constriction of peripheral visual field
HP:0001155	Abnormality of the hand
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001260	Dysarthria

GWAS associations

64 associations (top):

Study	Trait	p-value
GCST000303_1	Glycated hemoglobin levels	2.000000e-25
GCST000499_5	Hemoglobin	2.000000e-11
GCST000502_4	Hematocrit	1.000000e-13
GCST000585_9	Mean corpuscular volume	2.000000e-29
GCST000587_9	Mean corpuscular hemoglobin	3.000000e-25
GCST000588_4	Red blood cell count	2.000000e-17
GCST000803_10	Glycated hemoglobin levels	3.000000e-54
GCST001765_8	Red blood cell traits	4.000000e-20
GCST002110_3	Glycemic traits (pregnancy)	1.000000e-22
GCST003993_6	Menarche (age at onset)	2.000000e-08
GCST004005_6	Hemoglobin levels	1.000000e-08
GCST004601_123	Red blood cell count	2.000000e-48
GCST004602_185	Mean corpuscular volume	7.000000e-55
GCST004604_54	Hematocrit	8.000000e-159
GCST004611_173	High light scatter reticulocyte count	3.000000e-69
GCST004612_110	High light scatter reticulocyte percentage of red cells	3.000000e-53
GCST004615_67	Hemoglobin concentration	1.000000e-156
GCST004619_97	Reticulocyte fraction of red cells	3.000000e-72
GCST004621_15	Red cell distribution width	2.000000e-11
GCST004622_31	Reticulocyte count	2.000000e-96
GCST004628_40	Immature fraction of reticulocytes	1.000000e-11
GCST004630_240	Mean corpuscular hemoglobin	4.000000e-44
GCST005093_1	Iris color (a* coordinate)	6.000000e-06
GCST005096_5	Iris color (b* coordinate)	3.000000e-07
GCST005269_3	Luteinizing hormone levels in polycystic ovary syndrome	3.000000e-16
GCST005273_5	Polycystic ovary syndrome	2.000000e-08
GCST006060_1	Hemoglobin A1c levels	1.000000e-06
GCST006291_48	Spherical equivalent or myopia (age of diagnosis)	1.000000e-11
GCST007094_40	Diastolic blood pressure	1.000000e-06
GCST007099_157	Systolic blood pressure	3.000000e-08

EFO canonical traits (23, from GWAS)

EFO ID	Trait name
EFO:0004541	HbA1c measurement
EFO:0004509	hemoglobin measurement
EFO:0004348	hematocrit
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0004307	glucose tolerance test
EFO:0004703	age at menarche
EFO:0007986	reticulocyte count
EFO:0009188	Red cell distribution width
EFO:0003949	eye color
EFO:0007629	hemoglobin A1 measurement
EFO:0004847	age at onset
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0004344	birth weight
EFO:0005939	parental genotype effect measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004459	ferritin measurement
EFO:0009473	hemolysis
EFO:0010701	mean reticulocyte volume
EFO:0007985	platelet crit

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D006946	Hyperinsulinism	C18.452.394.968
D065886	Neurodevelopmental Disorders	F03.625
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C562995	Hexokinase Deficiency Hemolytic Anemia (supp.)
C535813	Neuropathy, hereditary motor and sensory, Russe type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2362996 (PROTEIN FAMILY), CHEMBL4205 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: vgic — Voltage-gated potassium channels (K_v)

Most potent curated ligand interactions (4 total), top 4:

Ligand	Action	Affinity	Parameter
CP-339818	Channel blocker	6.5	pIC50
nicardipine	Channel blocker	6.1	pIC50
quinidine	Channel blocker	3.7	pIC50
fampridine	Channel blocker	1.9	pIC50

ChEMBL bioactivities

13 potent at pChembl≥5 of 19 total, top 13 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.82	Ki	0.15	nM	CHEMBL5722941
9.74	IC50	0.18	nM	CHEMBL5722941
7.12	EC50	75	nM	CHEMBL444449
6.77	IC50	170	nM	CHEMBL444449
6.30	EC50	500	nM	CHEMBL3906400
5.89	EC50	1300	nM	CHEMBL259345
5.82	IC50	1500	nM	CHEMBL4207745
5.68	IC50	2100	nM	OROIDIN
5.64	EC50	2300	nM	CHEMBL408488
5.37	EC50	4300	nM	CHEMBL426482
5.32	EC50	4800	nM	CHEMBL382154
5.28	IC50	5300	nM	CHEMBL3621636
5.06	IC50	8800	nM	CHEMBL3261431

PubChem BioAssay actives

11 with measured affinity, of 57 total; 10 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3-[(1R,2aS,4S,5aS,8aS,10S,11aR,14aS,16S,17aS,19S,20aS,22S,23aS,25S,26aS,28S,29aS,31R,32aS,35aS,36R,38aS,39S,41aS,42S,44aS,45S,48R,50aS,51S,53aS,54S,56aS,57S,59aS,60S,63S,66S,69S,72S,75S,78S,87R,93S,96S,99S)-17a,20a,23a,53a,63-pentakis(4-aminobutyl)-31-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-5-carbamimidamido-2-[[(2S)-5-carbamimidamido-2-[[(2S)-1-[(2S)-5-oxopyrrolidine-2-carbonyl]pyrrolidine-2-carbonyl]amino]pentanoyl]amino]pentanoyl]amino]hexanoyl]amino]-4-methylpentanoyl]amino]-16,29a,72,78-tetrakis(2-amino-2-oxoethyl)-14a,26a-bis(3-amino-3-oxopropyl)-2a,38a,66-tribenzyl-28,50a,57-tris[(2S)-butan-2-yl]-4,5a,19,42,45,69-hexakis(3-carbamimidamidopropyl)-51,54-bis(2-carboxyethyl)-56a,99-bis(carboxymethyl)-36-[[(2S,3S)-1-(carboxymethylamino)-3-methyl-1-oxopentan-2-yl]carbamoyl]-39,60-bis[(1R)-1-hydroxyethyl]-75,93-bis(hydroxymethyl)-32a,35a,59a-tris[(4-hydroxyphenyl)methyl]-22-(1H-imidazol-4-ylmethyl)-96-(1H-indol-3-ylmethyl)-41a-methyl-25-(2-methylpropyl)-1a,3,4a,6,7a,9,10a,13a,15,16a,18,19a,21,22a,24,25a,27,28a,30,31a,34a,37a,38,40a,41,43a,44,47,49a,50,52a,53,55a,56,58a,59,61a,62,65,68,71,74,77,80,83,86,89,92,95,98-pentacontaoxo-33,34,63a,64a,67a,68a-hexathia-a,2,3a,5,6a,8,9a,12a,14,15a,17,18a,20,21a,23,24a,26,27a,29,30a,33a,36a,37,39a,40,42a,43,46,48a,49,51a,52,54a,55,57a,58,60a,61,64,67,70,73,76,79,82,85,88,91,94,97-pentacontazapentacyclo[85.74.4.448,111.010,14.0144,148]nonahexacontahectan-8a-yl]propanoic acid	2198828: Binding affinity to KV channel (unknown origin) assessed as inhibition constant	ki	0.0001	uM
4-(4-phenoxybutoxy)furo[3,2-g]chromen-7-one	1379138: Inhibition of human Kv1.4 expressed in CHO cells at -80 mV holding potential by whole cell automated patch clamp method	ic50	0.1700	uM
5-bromo-5-nitro-2-phenyl-1,3-dioxane	323747: Inhibition of Kv1.4 channel inactivation expressed in xenopus oocytes by voltage clamp assay	ec50	1.3000	uM
N-[(E)-3-(2-amino-1H-imidazol-5-yl)prop-2-enyl]-4,5-dichloro-1H-pyrrole-2-carboxamide	1379138: Inhibition of human Kv1.4 expressed in CHO cells at -80 mV holding potential by whole cell automated patch clamp method	ic50	1.5000	uM
N-[(E)-3-(2-amino-1H-imidazol-5-yl)prop-2-enyl]-4,5-dibromo-1H-pyrrole-2-carboxamide	1379138: Inhibition of human Kv1.4 expressed in CHO cells at -80 mV holding potential by whole cell automated patch clamp method	ic50	2.1000	uM
5-bromo-2,2-dimethyl-5-nitro-1,3-dioxane	323747: Inhibition of Kv1.4 channel inactivation expressed in xenopus oocytes by voltage clamp assay	ec50	2.3000	uM
1-[7-[(4-bromophenyl)methoxy]-6-hydroxy-4-methoxy-1-benzofuran-5-yl]ethanone	261020: Effect on blockade of Kv1.4 channel	ec50	4.3000	uM
1-[4-[(4-chlorophenyl)methoxy]-6-hydroxy-7-methoxy-1-benzofuran-5-yl]ethanone	261020: Effect on blockade of Kv1.4 channel	ec50	4.8000	uM
N-[(E)-3-(2-amino-1H-imidazol-5-yl)prop-2-enyl]-4-bromo-1H-pyrrole-2-carboxamide	1379138: Inhibition of human Kv1.4 expressed in CHO cells at -80 mV holding potential by whole cell automated patch clamp method	ic50	5.3000	uM
N-[(E)-3-(2-amino-1H-imidazol-5-yl)prop-2-enyl]-5-fluoro-1H-indole-2-carboxamide	1379138: Inhibition of human Kv1.4 expressed in CHO cells at -80 mV holding potential by whole cell automated patch clamp method	ic50	8.8000	uM

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation	1
testosterone-3-carboxymethyloxime-bovine serum albumin conjugate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	increases methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Copper	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Phthalic Acids	decreases methylation	1
Dronabinol	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Asbestos, Serpentine	increases methylation	1
Uranium Compounds	increases expression	1

ChEMBL screening assays

30 unique, capped per target: 26 binding, 2 admet, 1 toxicity, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1787442	Binding	Inhibition of human recombinant Kv channel at 10 uM by radioligand binding assay	Structure-activity relationships of pyrrole based S-nitrosoglutathione reductase inhibitors: pyrrole regioisomers and propionic acid replacement. — Bioorg Med Chem Lett
CHEMBL5522525	Toxicity	Inhibition of human K+ channel by automated electrophysiology	Discovery of Clinical Candidate AZD5462, a Selective Oral Allosteric RXFP1 Agonist for Treatment of Heart Failure. — J Med Chem
CHEMBL4009576	ADMET	Inhibition of Kv1.4 (unknown origin) expressed in HEK293 cells by whole cell patch clamp Qpatch method	A Rational Design of a Selective Inhibitor for Kv1.1 Channels Prevalent in Demyelinated Nerves That Improves Their Impaired Axonal Conduction. — J Med Chem

Cellosaurus cell lines

3 cell lines: 2 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C0Y0	B’SYS CHO Kv1.4	Spontaneously immortalized cell line	Female
CVCL_D1JX	PrecisION hKv1.4-CHO	Spontaneously immortalized cell line	Female
CVCL_E5JH	HEK293 Kv1.4	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00004700	PHASE2	COMPLETED	Phase II Long Term, Randomized Study of Recombinant Human Insulin-like Growth Factor I in Children With Hyperinsulinism
NCT00151684	PHASE2	COMPLETED	Diazoxide-Mediated Insulin Suppression in Hyperinsulinemic Obese Men
NCT00674440	PHASE2	COMPLETED	Utility of [F-18] fluoroDOPA for Neonatal Hyperinsulinism
NCT03053284	PHASE2	WITHDRAWN	Pasireotide in Hyperinsulinemic Hypoglycemia
NCT04062890	PHASE2	WITHDRAWN	Inhibiting GABA Transaminase to Relieve Obesity Induced Hyperinsulinemia and Insulin Resistance
NCT05088798	PHASE2	RECRUITING	Utility of 18FDOPA PET/MRI for Focal Hyperinsulinism
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
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