KCNN2

Summary

KCNN2 (potassium calcium-activated channel subfamily N member 2, HGNC:6291) is a protein-coding gene on chromosome 5q22.3, encoding Small conductance calcium-activated potassium channel protein 2 (Q9H2S1). Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening.

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 3781 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with or without variable movement or behavioral abnormalities (Strong, GenCC)
• GWAS associations: 19
• Clinical variants (ClinVar): 209 total — 9 pathogenic, 9 likely-pathogenic
• Phenotypes (HPO): 42
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_021614

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6291
Approved symbol	KCNN2
Name	potassium calcium-activated channel subfamily N member 2
Location	5q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KCa2.2, hSK2
Ensembl gene	ENSG00000080709
Ensembl biotype	protein_coding
OMIM	605879
Entrez	3781

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 4 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000503706, ENST00000505491, ENST00000506812, ENST00000507750, ENST00000512097, ENST00000512927, ENST00000631899, ENST00000632892, ENST00000673685

RefSeq mRNA: 3 — MANE Select: NM_021614 NM_001372233, NM_021614, NM_170775

CCDS: CCDS4114, CCDS43352, CCDS93760

Canonical transcript exons

ENST00000673685 — 8 exons

Exon	Start	End
ENSE00002081251	114495895	114496496
ENSE00002244471	114404438	114404856
ENSE00003583331	114487050	114487177
ENSE00003615502	114493403	114493472
ENSE00003682832	114463049	114463190
ENSE00003687001	114473054	114473164
ENSE00003691261	114363906	114364001
ENSE00003896520	114362070	114363261

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 94.98.

FANTOM5 (CAGE): breadth broad, TPM avg 3.7998 / max 99.6345, expressed in 524 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58031	2.2162	439
58033	0.5464	251
58032	0.3580	190
58034	0.2851	163
58030	0.0915	47
58025	0.0790	40
58027	0.0770	47
58026	0.0751	38
58038	0.0716	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	94.98	gold quality
oocyte	CL:0000023	94.00	gold quality
right adrenal gland	UBERON:0001233	92.04	gold quality
right adrenal gland cortex	UBERON:0035827	90.81	gold quality
left adrenal gland	UBERON:0001234	90.74	gold quality
adrenal cortex	UBERON:0001235	90.08	gold quality
left adrenal gland cortex	UBERON:0035825	89.91	gold quality
CA1 field of hippocampus	UBERON:0003881	89.55	gold quality
adrenal gland	UBERON:0002369	88.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.39	gold quality
middle temporal gyrus	UBERON:0002771	88.06	gold quality
cortical plate	UBERON:0005343	87.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.26	gold quality
right lobe of liver	UBERON:0001114	83.53	gold quality
Ammon’s horn	UBERON:0001954	83.28	gold quality
liver	UBERON:0002107	82.20	gold quality
cerebellar vermis	UBERON:0004720	81.89	silver quality
heart right ventricle	UBERON:0002080	81.39	gold quality
choroid plexus epithelium	UBERON:0003911	81.24	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.13	gold quality
spinal cord	UBERON:0002240	80.65	gold quality
cerebral cortex	UBERON:0000956	80.35	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.35	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.33	gold quality
prefrontal cortex	UBERON:0000451	80.09	gold quality
cerebellar cortex	UBERON:0002129	80.08	gold quality
cerebellar hemisphere	UBERON:0002245	80.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.01	gold quality
cerebellum	UBERON:0002037	79.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.76

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ERG, NR3C1, NR3C2

miRNA regulators (miRDB)

26 targeting KCNN2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-1244	99.33	68.38	832
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-3908	98.75	67.31	1160
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-4703-5P	98.53	70.13	1645
HSA-MIR-3942-5P	98.52	69.51	1517
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-7852-3P	98.37	67.98	823
HSA-MIR-3074-3P	97.83	67.26	922
HSA-MIR-6085	96.57	64.11	621
HSA-MIR-6813-5P	94.68	64.20	588

Literature-anchored findings (GeneRIF, showing 26)

• RT-PCR analysis showed strong expression of SK2 mRNA in the normal human colon. (PMID:12778407)
• Because of the marked differential expression of SK2 channels in the heart, specific ligands for Ca2+-activated K+ currents may offer a unique therapeutic opportunity to modify atrial cells without interfering with ventricular myocytes (PMID:13679367)
• SK2 plays an important role in mediating the increase in transepithelial secretion due to increases in intracellular Ca 2+. SK2 channels, therefore, may represent a target for pharmacologic modulation of bile flow. (PMID:15362045)
• The subtype SK2 channels were up-regulated under hypoxia, shown with pharmacological tools and with mRNA analysis. (PMID:16396931)
• Functions of SK2 channels in atrial myocytes are critically dependent on the normal expression of Ca(v)1.3 Ca(2+) channels. (PMID:17110593)
• Results suggest that SK2-channel activation may largely contribute to the sustained Ca2+ influx in the G0/G1 phase in comparison of that in the G2/M phase in Jurkat T-lymphocytes. (PMID:17452806)
• Present study directly defines the functional roles of SK2 channels in transgenic mice using a genetically engineered model, and provides a possible link between abnormalities in cardiac SK2 channels and cardiac arrhythmias. (PMID:19139040)
• demonstrate that proper membrane localization of a small-conductance Ca(2+)-activated K(+) channel (SK2 or K(Ca)2.2) is dependent on its interacting protein, alpha-actinin2, a major F-actin crosslinking protein. (PMID:19815520)
• Decreased expression of small-conductance Ca2+-activated K+ channels SK1 and SK2 in human chronic atrial fibrillation (PMID:22154908)
• Increase in both Ca(2+) sensitivity and SK2 protein expression contributes to the IKAS upregulation in failing human ventricles. (PMID:23525437)
• KCNN2 gene can have an important role in the development of coronary artery aneurysms in Kawasaki disease. (PMID:23677057)
• Differentiated dopaminergic neurons expressed low levels of SK2 channels and high levels of SK1 and SK3 channels. (PMID:24434522)
• The ER SK2 channel activation preserves ER Ca(2+) uptake and retention which determines cell survival in conditions where sustained ER stress contributes to progressive neuronal death. (PMID:26586570)
• Study establishes the distribution profile of SK2 channel protein in human brain.The expression of SK2 human isoform b in brain could explain the variability of electrophysiological findings observed with SK2 channels. (PMID:27357310)
• There was a significant association between the KCNN2 variants and clinically significant VTa. These findings suggest an association between KCNN2 and VTa; it also appears that KCNN2 variants may be adjunctive markers for risk stratification in patients susceptible to SCD. (PMID:27442679)
• These results provide new insights into the regulation of SK2 channel trafficking by the cytoskeletal proteins FLNA and alpha-actinin2, involving distinct recycling pathways (PMID:27779751)
• Junctophilin 2, as junctional membrane complex (JMC) protein, is an important regulator of the cardiac SK channels (PMID:29055091)
• SK current is increased via the enhanced activation of CaMKII in patients with atrial fibrillation. (PMID:29737974)
• Immuno-visualization of the subcellular localization of SK2 and SK3 subunits showed a high degree of colocalization, consistent with the formation of heteromeric SK2/SK3 channels. (PMID:30922569)
• KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia. (PMID:32212350)
• SK2 channel regulation of neuronal excitability, synaptic transmission, and brain rhythmic activity in health and diseases. (PMID:32860835)
• Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders. (PMID:33242881)
• HDAC2-dependent remodeling of KCa2.2 (KCNN2) and KCa2.3 (KCNN3) K(+) channels in atrial fibrillation with concomitant heart failure. (PMID:33310041)
• Preferential formation of human heteromeric SK2:SK3 channels limits homomeric SK channel assembly and function. (PMID:36502918)
• Loss-of-function KCa2.2 mutations abolish channel activity. (PMID:36717104)
• A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis. (PMID:37510285)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcnn2	ENSDARG00000014939
mus_musculus	Kcnn2	ENSMUSG00000054477
rattus_norvegicus	Kcnn2	ENSRNOG00000016675
drosophila_melanogaster	SK	FBGN0029761
caenorhabditis_elegans		WBGENE00007176
caenorhabditis_elegans		WBGENE00008265
caenorhabditis_elegans	kcnl-2	WBGENE00008570
caenorhabditis_elegans		WBGENE00015387

Paralogs (3): KCNN4 (ENSG00000104783), KCNN1 (ENSG00000105642), KCNN3 (ENSG00000143603)

Protein

Protein identifiers

Small conductance calcium-activated potassium channel protein 2 — Q9H2S1 (reviewed: Q9H2S1)

Alternative names: KCa2.2

All UniProt accessions (6): Q9H2S1, A0A0J9YW81, A0A3F2YNY5, A0A669KBH3, A0A9L9PY74, D6RGY7

UniProt curated annotations — full annotation on UniProt →

Function. Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening. The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of about 3 picosiemens. Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV. The inward rectification could be due to a blockade of the outward current by intracellular divalent cations such as calcium and magnesium and could also be due to an intrinsic property of the channel pore, independent of intracellular divalent ions. There are three positively charged amino acids in the S6 transmembrane domain, close to the pore, that collectively control the conductance and rectification through an electrostatic mechanism. Additionally, electrostatic contributions from these residues also play an important role in determining the intrinsic open probability of the channel in the absence of calcium, affecting the apparent calcium affinity for activation. Forms an heteromeric complex with calmodulin, which is constitutively associated in a calcium-independent manner. Channel opening is triggered when calcium binds the calmodulin resulting in a rotary movement leading to the formation of the dimeric complex to open the gate. Plays a role in the repolarization phase of cardiac action potential.

Subunit / interactions. Homodimer. Heteromultimer with KCNN1 and KCNN3. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding. Interacts (via N-terminal domain) with MPP2.

Subcellular location. Membrane. Cytoplasm. Myofibril. Sarcomere. Z line.

Tissue specificity. Expressed in atrial myocytes (at protein level). Widely expressed.

Disease relevance. Dystonia 34, myoclonic (DYT34) [MIM:619724] A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. The disease may be caused by variants affecting the gene represented in this entry. Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] An autosomal dominant disorder characterized by motor and language developmental delay, intellectual disability often associated with early-onset movement disorders comprising cerebellar ataxia and/or extrapyramidal symptoms. Other variable features include autism spectrum disorder or autistic features and epilepsy. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by bee venom neurotoxin apamin. Inhibited by UCL 1684 and tetraethylammonium (TEA).

Domain organisation. The coiled-coil domaim mediates heteromeic assembly. The calmodulin-binding domain (CaMBD) forms an elongated dimer with a calmodulin molecule bound at each end; each calmodulin wraps around three alpha-helices, two from one CaMBD subunit and one from the other.

Similarity. Belongs to the potassium channel KCNN family. KCa2.2/KCNN2 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2S1-1	1	yes
Q9H2S1-2	2

RefSeq proteins (3): NP_001359162, NP_067627, NP_740721 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004178	CaM-bd_dom	Domain
IPR013099	K_chnl_dom	Domain
IPR015449	K_chnl_Ca-activ_SK	Family
IPR036122	CaM-bd_dom_sf	Homologous_superfamily

Pfam: PF02888, PF03530, PF07885

Catalyzed reactions (Rhea), 1 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (36 total): sequence variant 10, transmembrane region 6, sequence conflict 5, region of interest 4, helix 3, compositionally biased region 2, strand 2, chain 1, modified residue 1, splice variant 1, intramembrane region 1

Structure

Experimental structures (PDB)

16 structures.

PDB	Method	Resolution (Å)
5V03	X-RAY DIFFRACTION	1.58
5V02	X-RAY DIFFRACTION	1.78
5WBX	X-RAY DIFFRACTION	1.9
5WC5	X-RAY DIFFRACTION	2.3
6ALE	X-RAY DIFFRACTION	2.5
9ZRQ	ELECTRON MICROSCOPY	2.77
9VUC	ELECTRON MICROSCOPY	2.96
9O48	ELECTRON MICROSCOPY	3.1
9O5O	ELECTRON MICROSCOPY	3.1
9O52	ELECTRON MICROSCOPY	3.18
9VUA	ELECTRON MICROSCOPY	3.23
9O53	ELECTRON MICROSCOPY	3.3
9ZRR	ELECTRON MICROSCOPY	3.31
9VU9	ELECTRON MICROSCOPY	3.34
9VUB	ELECTRON MICROSCOPY	3.35
9O51	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2S1-F1	77.98	0.44

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): 160

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1296052	Ca2+ activated K+ channels
R-HSA-9667769	Acetylcholine inhibits contraction of outer hair cells
R-HSA-112316	Neuronal System
R-HSA-1296071	Potassium Channels
R-HSA-9659379	Sensory processing of sound
R-HSA-9662361	Sensory processing of sound by outer hair cells of the cochlea
R-HSA-9709957	Sensory Perception

MSigDB gene sets: 261 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD8A_DC_DN, GOBP_POTASSIUM_ION_TRANSPORT, CREL_01, TGCGCANK_UNKNOWN, GOBP_CIRCULATORY_SYSTEM_PROCESS, TGCACTT_MIR519C_MIR519B_MIR519A, REACTOME_POTASSIUM_CHANNELS, GCANCTGNY_MYOD_Q6, GOCC_CELL_SURFACE, AP4_Q6, AP2_Q3, CAGCTG_AP4_Q5, SP1_Q2_01, GOBP_MONOATOMIC_CATION_TRANSPORT

GO Biological Process (7): potassium ion transport (GO:0006813), potassium ion transmembrane transport (GO:0071805), membrane repolarization during atrial cardiac muscle cell action potential (GO:0098914), regulation of potassium ion transmembrane transport (GO:1901379), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), monoatomic cation transmembrane transport (GO:0098655)

GO Molecular Function (9): inward rectifier potassium channel activity (GO:0005242), calmodulin binding (GO:0005516), calcium-activated potassium channel activity (GO:0015269), small conductance calcium-activated potassium channel activity (GO:0016286), protein domain specific binding (GO:0019904), protein homodimerization activity (GO:0042803), alpha-actinin binding (GO:0051393), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), Z disc (GO:0030018), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Potassium Channels	1
Sensory processing of sound by outer hair cells of the cochlea	1
Neuronal System	1
Sensory Perception	1
Sensory processing of sound	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein binding	2
metal ion transport	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
membrane repolarization during cardiac muscle cell action potential	1
atrial cardiac muscle cell action potential	1
atrial cardiac muscle cell membrane repolarization	1
regulation of potassium ion transport	1
potassium ion transmembrane transport	1
regulation of monoatomic cation transmembrane transport	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
monoatomic cation transport	1
monoatomic ion transmembrane transport	1
voltage-gated potassium channel activity	1
ligand-gated monoatomic cation channel activity	1
calcium-activated cation channel activity	1
potassium channel activity	1
calcium-activated potassium channel activity	1
identical protein binding	1
protein dimerization activity	1
actinin binding	1
monoatomic cation channel activity	1
potassium ion transmembrane transporter activity	1
binding	1
membrane	1
cell periphery	1
I band	1
somatodendritic compartment	1
cell body	1
dendrite	1
neuron spine	1
postsynapse	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNN2	CALM1	P02593	922
KCNN2	CALML3	P27482	903
KCNN2	CALML6	Q8TD86	903
KCNN2	CALML4	Q96GE6	903
KCNN2	CALML5	Q9NZT1	903
KCNN2	CACNA1D	Q01668	803
KCNN2	CAMK1G	Q96NX5	767
KCNN2	KCNMA1	Q12791	709
KCNN2	CSN3	P07498	697
KCNN2	KCND3	Q9UK17	688
KCNN2	KCNJ3	P48549	680
KCNN2	KCNMB4	Q86W47	655
KCNN2	CACNA1C	Q13936	654
KCNN2	KCNA5	P22460	605
KCNN2	KCNJ8	Q15842	588

IntAct

7 interactions, top by confidence:

A	B	Type	Score
KCNN2	ACTN2	psi-mi:“MI:0407”(direct interaction)	0.530
KCNN2	ACTN2	psi-mi:“MI:0915”(physical association)	0.530
KCNN2	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
SRPK1	KCNN2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
KCNN2	CALM1	psi-mi:“MI:0407”(direct interaction)	0.410

BioGRID (7): KCNN2 (Affinity Capture-RNA), KCNN2 (Co-crystal Structure), CALM1 (Co-crystal Structure), KCNN2 (Affinity Capture-MS), ACTN2 (Reconstituted Complex), KCNN2 (Biochemical Activity), KCNN2 (Biochemical Activity)

ESM2 similar proteins: A0A0B7P9G0, B1H1G2, B8Q0B2, O18866, O18867, O95259, P29973, P29974, P70604, Q00194, Q00195, Q03041, Q03720, Q08460, Q0IH22, Q12791, Q16280, Q16281, Q21029, Q28204, Q28279, Q28718, Q28EW0, Q29441, Q3BCU4, Q5PQZ7, Q5U2P1, Q60603, Q62398, Q62927, Q62976, Q63472, Q6JWV8, Q8JH92, Q8NCM2, Q8NE79, Q90805, Q90980, Q90ZC7, Q920E3

Diamond homologs: O15554, O89109, P58390, P58391, P58392, P70604, P70605, P70606, Q02006, Q7KVW5, Q92952, Q9EQR3, Q9H2S1, Q9QYW1, Q9UGI6, O43525, O88944, P58126, Q11122, Q8K3F6, P17971

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
PRKACA	down-regulates	KCNN2	phosphorylation
Riluzole	“up-regulates activity”	KCNN2	“chemical activation”
Naphtho[1,2-d]thiazol-2-amine	“up-regulates activity”	KCNN2	“chemical activation”
UBE3A	“up-regulates activity”	KCNN2	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	9
Uncertain significance	152
Likely benign	27
Benign	3

Top pathogenic / likely-pathogenic (18)

Variant ID	HGVS	Classification
3069186	NM_021614.4(KCNN2):c.1384dup (p.Thr462fs)	Pathogenic
3573579	NM_021614.4(KCNN2):c.1960_1961dup (p.Ile655fs)	Pathogenic
3862961	NM_021614.4(KCNN2):c.1993C>T (p.Arg665Ter)	Pathogenic
4526147	NC_000005.9:g.(113740554_113798745)(113832194?)del	Pathogenic
933141	NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer)	Pathogenic
933142	NM_021614.4(KCNN2):c.1116C>A (p.Tyr372Ter)	Pathogenic
933146	NM_021614.4(KCNN2):c.1720G>A (p.Gly574Ser)	Pathogenic
933147	NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val)	Pathogenic
933149	NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)	Pathogenic
1699369	NM_021614.4(KCNN2):c.1771G>C (p.Gly591Arg)	Likely pathogenic
2499578	NM_021614.4(KCNN2):c.1977dup (p.Val660fs)	Likely pathogenic
3365762	NM_021614.4(KCNN2):c.1698_1700dup (p.Thr567_Phe568insThr)	Likely pathogenic
3767210	NM_021614.4(KCNN2):c.1685G>T (p.Trp562Leu)	Likely pathogenic
3775904	NM_021614.4(KCNN2):c.548C>A (p.Ser183Ter)	Likely pathogenic
4534846	NM_021614.4(KCNN2):c.1267dup (p.Tyr423fs)	Likely pathogenic
4814029	NM_021614.4(KCNN2):c.1780-2A>G	Likely pathogenic
933143	NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)	Likely pathogenic
933145	NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)	Likely pathogenic

SpliceAI

1935 predictions. Top by Δscore:

Variant	Effect	Δscore
5:114361044:G:GT	donor_gain	1.0000
5:114404433:TTCA:T	acceptor_loss	1.0000
5:114404434:TCAG:T	acceptor_loss	1.0000
5:114404436:A:AG	acceptor_gain	1.0000
5:114404436:AGT:A	acceptor_loss	1.0000
5:114404436:AGTT:A	acceptor_gain	1.0000
5:114404437:G:GG	acceptor_gain	1.0000
5:114404437:GTT:G	acceptor_gain	1.0000
5:114404437:GTTG:G	acceptor_gain	1.0000
5:114463043:TTTCA:T	acceptor_loss	1.0000
5:114463044:TTCA:T	acceptor_loss	1.0000
5:114463046:CA:C	acceptor_loss	1.0000
5:114463047:A:AG	acceptor_gain	1.0000
5:114463047:AGG:A	acceptor_loss	1.0000
5:114463048:G:GG	acceptor_gain	1.0000
5:114463048:G:GT	acceptor_loss	1.0000
5:114463048:GGT:G	acceptor_gain	1.0000
5:114463187:TATG:T	donor_gain	1.0000
5:114463188:ATG:A	donor_gain	1.0000
5:114463188:ATGGT:A	donor_loss	1.0000
5:114463189:TGG:T	donor_loss	1.0000
5:114463190:GGT:G	donor_loss	1.0000
5:114463191:G:GA	donor_loss	1.0000
5:114463191:G:GG	donor_gain	1.0000
5:114463192:T:A	donor_loss	1.0000
5:114473052:AG:A	acceptor_gain	1.0000
5:114473053:GG:G	acceptor_gain	1.0000
5:114473160:AAAGA:A	donor_gain	1.0000
5:114473161:AAGA:A	donor_gain	1.0000
5:114473162:AGA:A	donor_gain	1.0000

AlphaMissense

5191 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:114363137:T:A	L121Q	1.000
5:114363137:T:C	L121P	1.000
5:114363145:C:G	R124G	1.000
5:114363146:G:C	R124P	1.000
5:114363149:G:C	R125P	1.000
5:114363155:T:C	L127P	1.000
5:114363157:T:C	F128L	1.000
5:114363158:T:G	F128C	1.000
5:114363159:C:A	F128L	1.000
5:114363159:C:G	F128L	1.000
5:114363166:C:A	R131S	1.000
5:114363167:G:C	R131P	1.000
5:114363173:G:C	R133P	1.000
5:114363176:T:C	L134P	1.000
5:114363178:A:C	S135R	1.000
5:114363180:C:A	S135R	1.000
5:114363180:C:G	S135R	1.000
5:114363181:G:C	D136H	1.000
5:114363182:A:C	D136A	1.000
5:114363182:A:T	D136V	1.000
5:114363187:G:C	A138P	1.000
5:114363191:T:A	L139H	1.000
5:114363191:T:C	L139P	1.000
5:114363199:G:C	G142R	1.000
5:114363200:G:A	G142D	1.000
5:114363208:G:C	G145R	1.000
5:114363209:G:A	G145D	1.000
5:114363209:G:T	G145V	1.000
5:114363221:T:A	M149K	1.000
5:114363239:T:C	L155P	1.000

dbSNP variants (sampled 300 via entrez): RS1000005016 (5:114121995 C>T), RS1000010913 (5:114468625 A>C), RS1000013083 (5:114113484 A>G), RS1000019751 (5:114306710 T>C), RS1000021223 (5:114449000 C>T), RS1000026367 (5:114432323 C>A), RS1000055449 (5:114163443 T>G), RS1000059658 (5:114425585 G>A,C), RS1000060580 (5:114372019 G>T), RS1000061421 (5:114333131 C>T), RS1000062411 (5:114387747 A>C), RS1000076398 (5:114147839 T>C), RS1000087790 (5:114297955 C>T), RS1000088424 (5:114454357 A>G), RS1000089644 (5:114308066 C>T)

Disease associations

OMIM: gene MIM:605879 | disease phenotypes: MIM:619724, MIM:619725

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with or without variable movement or behavioral abnormalities	Strong	Autosomal dominant

Mondo (6): dystonia 34, myoclonic (MONDO:0030538), neurodevelopmental disorder with or without variable movement or behavioral abnormalities (MONDO:0859225), neurodevelopmental disorder (MONDO:0700092), primary ovarian failure (MONDO:0005387), cerebellar ataxia (MONDO:0000437), intellectual disability (MONDO:0001071)

Orphanet (3): Rare ataxia (Orphanet:102002), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

42 total (30 of 42 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
HP:0000473	Torticollis
HP:0000508	Ptosis
HP:0000646	Amblyopia
HP:0000709	Psychosis
HP:0000729	Autistic behavior
HP:0000733	Motor stereotypy
HP:0000739	Anxiety
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001300	Parkinsonism
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001583	Rotary nystagmus
HP:0002067	Bradykinesia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002072	Chorea
HP:0002080	Intention tremor
HP:0002188	Delayed CNS myelination
HP:0002322	Resting tremor
HP:0002346	Head tremor
HP:0002356	Writer’s cramp
HP:0002378	Hand tremor
HP:0002396	Cogwheel rigidity
HP:0002518	Abnormal periventricular white matter morphology
HP:0003593	Infantile onset

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST001762_236	Obesity-related traits	5.000000e-06
GCST002026_1	Coronary arterial lesions in patients with Kawasaki disease	2.000000e-08
GCST003427_8	Alzheimer disease and age of onset	9.000000e-07
GCST003542_138	Night sleep phenotypes	7.000000e-06
GCST004032_4	JT interval (sulfonylurea treatment interaction)	9.000000e-07
GCST004295_2	Atrial fibrillation	3.000000e-08
GCST006061_46	Atrial fibrillation	1.000000e-13
GCST006061_47	Atrial fibrillation	1.000000e-10
GCST006414_91	Atrial fibrillation	2.000000e-16
GCST007094_25	Diastolic blood pressure	7.000000e-09
GCST007095_116	Systolic blood pressure	2.000000e-08
GCST007095_117	Systolic blood pressure	3.000000e-07
GCST007098_17	Diastolic blood pressure	4.000000e-08
GCST007098_18	Diastolic blood pressure	2.000000e-06
GCST007099_107	Systolic blood pressure	2.000000e-10
GCST007353_7	Generalized epilepsy	7.000000e-10
GCST011516_2	joint destruction in rheumatoid arthritis (rapid vs slow)	2.000000e-07
GCST011517_1	joint destruction in rheumatoid arthritis (rapid vs slow)	9.000000e-09
GCST012460_6	Atrial fibrillation	1.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004502	adiponectin measurement
EFO:0004847	age at onset
EFO:0007885	JT interval
EFO:0007922	response to sulfonylurea
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0005413	joint damage measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002524	Cerebellar Ataxia	C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D065886	Neurodevelopmental Disorders	F03.625
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4469 (SINGLE PROTEIN), CHEMBL4524132 (PROTEIN FAMILY)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 3,066 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL449782	CEPHARANTHINE	2	3,066

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: vgic — Calcium- and sodium-activated potassium channels (K_Ca, K_Na)

Most potent curated ligand interactions (27 total), top 25:

Ligand	Action	Affinity	Parameter
tamapin	Antagonist	10.6	pIC50
UCL1684	Inhibitor	10.06	pIC50
leiurotoxin I	Antagonist	9.7	pIC50
UCL1848	Antagonist	9.6	pIC50
apamin	Inhibitor	9.4	pKd
Lei-Dab7	Inhibitor	8.42	pIC50
P05	Antagonist	7.7	pIC50
RA-2	Antagonist	7.7	pIC50
dequalinium	Antagonist	6.8	pIC50
tetrandrine	Inhibition	6.51	pKi
Ca2+	Agonist	6.5	pEC50
NS8593	Channel blocker	6.4	pIC50
NS309	Agonist	6.2	pEC50
AP14145	Inhibitor	5.96	pIC50
NS13001	Agonist	5.74	pEC50
tubocurarine	Antagonist	5.7	pIC50
SKA-31	Agonist	5.7	pEC50
AP30663	Channel blocker	5.64	pIC50
rimtuzalcap	Activator	5.29	pIC50
CyPPA	Agonist	4.9	pEC50
riluzole	Agonist	4.89	pEC50
bicuculline	Antagonist	4.6	pIC50
DC-EBIO	Agonist	4.6	pEC50
chlorzoxazone	Activator	4.1	pEC50
EBIO	Agonist	3.3	pEC50

ChEMBL bioactivities

22 potent at pChembl≥5 of 23 total, top 22 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.96	IC50	11	nM	CHEMBL476339
7.33	Kd	47	nM	CHEMBL511710
7.23	IC50	59	nM	CHEMBL476339
7.05	Ki	90	nM	CHEMBL1909931
6.91	IC50	123	nM	CHEMBL489770
6.71	Ki	194	nM	CHEMBL1909929
6.56	Ki	277	nM	CHEMBL1182632
6.55	Ki	284	nM	BERBAMINE
6.51	Ki	306	nM	FANCHININ
6.40	Ki	397	nM	CHEMBL1909932
6.28	IC50	530	nM	CHEMBL472452
6.26	IC50	543	nM	CHEMBL489770
6.23	Ki	593	nM	CHEMBL1909928
6.10	EC50	800	nM	CHEMBL499968
6.06	Ki	878	nM	CHEMBL1909930
5.96	IC50	1100	nM	CHEMBL452406
5.90	Ki	1256	nM	CHEMBL1182643
5.88	Ki	1318	nM	CEPHARANTHINE
5.77	Ki	1685	nM	CHEMBL1185254
5.75	EC50	1800	nM	CHEMBL5421015
5.58	IC50	2600	nM	CHEMBL257156
5.30	EC50	5000	nM	CHEMBL444449

PubChem BioAssay actives

21 with measured affinity, of 47 total; 19 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
N-(4-methyl-2-pyridinyl)-4-pyridin-2-yl-1,3-thiazol-2-amine	387520: Inhibition of Kca2.2 channel expressed in HEK293 cells by thallium flux assay	ic50	0.0110	uM
N-(6,7-dichloro-1,2,3,4-tetrahydronaphthalen-1-yl)-1H-benzimidazol-2-amine	347105: Inhibition of human SK2 channel by inside-out patch clamp technique	kd	0.0470	uM
2-methyl-1-[[3-[(2-methyl-8-propan-2-ylisoquinolin-2-ium-1-yl)methyl]phenyl]methyl]-8-propan-2-ylisoquinolin-2-ium diiodide	626505: Displacement of [125I]-apamin from cloned SK2 channel expressed in human HEK293 cells after 1 hr by liquid scintillation counting	ki	0.0900	uM
N,4-dipyridin-2-yl-1,3-thiazol-2-amine	387520: Inhibition of Kca2.2 channel expressed in HEK293 cells by thallium flux assay	ic50	0.1230	uM
2-methyl-1-[4-(2-methyl-8-propan-2-ylisoquinolin-2-ium-1-yl)butyl]-8-propan-2-ylisoquinolin-2-ium diiodide	626505: Displacement of [125I]-apamin from cloned SK2 channel expressed in human HEK293 cells after 1 hr by liquid scintillation counting	ki	0.1940	uM
(1S)-1-[3-[(1S)-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinolin-1-yl]propyl]-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinoline	2006726: Displacement of [125I]apamin from SK2 (unknown origin) expressed in HEK293 cells assessed as inhibition constant incubated for 1 hr by liquid scintillation counting analysis	ki	0.2770	uM
(1S,14R)-20,21,25-trimethoxy-15,30-dimethyl-7,23-dioxa-15,30-diazaheptacyclo[22.6.2.23,6.18,12.114,18.027,31.022,33]hexatriaconta-3(36),4,6(35),8,10,12(34),18,20,22(33),24,26,31-dodecaen-9-ol	2006723: Displacement of [125I]apamin from human SK2 expressed in HEK293 cells assessed as inhibition constant incubated for 1 hr by liquid scintillation counting analysis	ki	0.2840	uM
(1S,14S)-9,20,21,25-tetramethoxy-15,30-dimethyl-7,23-dioxa-15,30-diazaheptacyclo[22.6.2.23,6.18,12.114,18.027,31.022,33]hexatriaconta-3(36),4,6(35),8,10,12(34),18,20,22(33),24,26,31-dodecaene	2006726: Displacement of [125I]apamin from SK2 (unknown origin) expressed in HEK293 cells assessed as inhibition constant incubated for 1 hr by liquid scintillation counting analysis	ki	0.3060	uM
2-methyl-1-[[4-[(2-methyl-8-propan-2-ylisoquinolin-2-ium-1-yl)methyl]phenyl]methyl]-8-propan-2-ylisoquinolin-2-ium diiodide	626505: Displacement of [125I]-apamin from cloned SK2 channel expressed in human HEK293 cells after 1 hr by liquid scintillation counting	ki	0.3970	uM
5-chloro-N-(thiophen-2-ylmethyl)pyrazolo[1,5-a]pyrimidin-7-amine	349492: Inhibition of Kca2.2 channel expressed in HEK293 cells by thallium flux assay	ic50	0.5300	uM
2-methyl-1-[3-(2-methyl-8-propan-2-ylisoquinolin-2-ium-1-yl)propyl]-8-propan-2-ylisoquinolin-2-ium diiodide	626505: Displacement of [125I]-apamin from cloned SK2 channel expressed in human HEK293 cells after 1 hr by liquid scintillation counting	ki	0.5930	uM
6,7-dichloro-3-nitroso-1H-indol-2-ol	1974165: Positive modulation of SK2 in HEK293 cells in presence of Ca2+ by patch-clamp method	ec50	0.8000	uM
2-methyl-1-[5-(2-methyl-8-propan-2-ylisoquinolin-2-ium-1-yl)pentyl]-8-propan-2-ylisoquinolin-2-ium diiodide	626505: Displacement of [125I]-apamin from cloned SK2 channel expressed in human HEK293 cells after 1 hr by liquid scintillation counting	ki	0.8780	uM
N-benzyl-5-chloropyrazolo[1,5-a]pyrimidin-7-amine	349492: Inhibition of Kca2.2 channel expressed in HEK293 cells by thallium flux assay	ic50	1.1000	uM
(1R)-1-[3-[(1R)-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinolin-1-yl]propyl]-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinoline	2006726: Displacement of [125I]apamin from SK2 (unknown origin) expressed in HEK293 cells assessed as inhibition constant incubated for 1 hr by liquid scintillation counting analysis	ki	1.2560	uM
(14S,27R)-22,33-dimethoxy-13,28-dimethyl-2,5,7,20-tetraoxa-13,28-diazaoctacyclo[25.6.2.216,19.13,10.121,25.04,8.031,35.014,39]nonatriaconta-1(33),3(39),4(8),9,16(38),17,19(37),21,23,25(36),31,34-dodecaene	2006723: Displacement of [125I]apamin from human SK2 expressed in HEK293 cells assessed as inhibition constant incubated for 1 hr by liquid scintillation counting analysis	ki	1.3180	uM
(1S)-1-[3-[(1R)-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinolin-1-yl]propyl]-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinoline	2006726: Displacement of [125I]apamin from SK2 (unknown origin) expressed in HEK293 cells assessed as inhibition constant incubated for 1 hr by liquid scintillation counting analysis	ki	1.6850	uM
N-(4-chlorophenyl)-2-(3,5-dimethylpyrazol-1-yl)-9-methylpurin-6-amine	1974165: Positive modulation of SK2 in HEK293 cells in presence of Ca2+ by patch-clamp method	ec50	1.8000	uM
(1S)-1-[3-[(1S)-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinolin-1-yl]propyl]-6,7-dimethoxy-2-methyl-3,4-dihydro-1H-isoquinoline;dihydrochloride	332057: Inhibition of SK2 expressed in CHO FlipIn cells by whole cell patch-clamp assay	ic50	2.6000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Benzo(a)pyrene	increases mutagenesis, decreases expression, increases methylation	3
entinostat	increases expression, affects cotreatment	2
Apamin	decreases reaction, increases activity, increases import, decreases activity	2
Doxorubicin	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression, affects expression	2
methylmercuric chloride	increases expression	1
bisphenol A	increases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression, decreases reaction	1
celastrol	decreases expression	1
leiurotoxin I	decreases activity	1
CGP 52608	affects binding, increases reaction	1
gedunin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
cyclohexyl-(2-(3,5-dimethylpyrazol-1-yl)-6-methylpyrimidin-4-yl)amine	increases import, increases reaction, decreases reaction, increases activity	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression	1
Bupivacaine	decreases activity	1
Calcitriol	increases expression, affects cotreatment	1
Calcium	increases activity, increases reaction	1
Cytarabine	decreases expression	1
Demecolcine	increases expression	1
Etoposide	decreases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, decreases reaction	1

ChEMBL screening assays

22 unique, capped per target: 22 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1008913	Binding	Inhibition of human SK2 channel by inside-out patch clamp technique	Synthesis and structure-activity relationship studies of 2-(N-substituted)-aminobenzimidazoles as potent negative gating modulators ofsmall conductance Ca2+-activated K+ channels. — J Med Chem

Clinical trials (associated diseases)

300 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,
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740	PHASE4	COMPLETED	C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
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
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT01970098	PHASE3	COMPLETED	A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111	PHASE3	COMPLETED	An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124	PHASE3	COMPLETED	A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137	PHASE3	COMPLETED	A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302	PHASE3	COMPLETED	An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080	PHASE3	ACTIVE_NOT_RECRUITING	Open Pilot Trial of BHV-4157
NCT03701399	PHASE3	ACTIVE_NOT_RECRUITING	Troriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638	PHASE3	TERMINATED	Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137	PHASE3	RECRUITING	Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT00034242	PHASE2	COMPLETED	High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538	PHASE2	COMPLETED	Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016	PHASE2	COMPLETED	A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440	PHASE2	COMPLETED	Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism