KCNB1

Summary

KCNB1 (potassium voltage-gated channel subfamily B member 1, HGNC:6231) is a protein-coding gene on chromosome 20q13.13, encoding Potassium voltage-gated channel subfamily B member 1 (Q14721). Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system.

Voltage-gated potassium (Kv) 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, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members.

Source: NCBI Gene 3745 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 11
• Clinical variants (ClinVar): 870 total — 45 pathogenic, 53 likely-pathogenic
• Phenotypes (HPO): 62
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_004975

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6231
Approved symbol	KCNB1
Name	potassium voltage-gated channel subfamily B member 1
Location	20q13.13
Locus type	gene with protein product
Status	Approved
Aliases	Kv2.1
Ensembl gene	ENSG00000158445
Ensembl biotype	protein_coding
OMIM	600397
Entrez	3745

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding_CDS_not_defined, 3 protein_coding, 1 nonsense_mediated_decay

ENST00000371741, ENST00000635210, ENST00000635465, ENST00000635809, ENST00000635878, ENST00000636838, ENST00000636950, ENST00000637131, ENST00000637357

RefSeq mRNA: 1 — MANE Select: NM_004975 NM_004975

CCDS: CCDS13418

Canonical transcript exons

ENST00000371741 — 2 exons

Exon	Start	End
ENSE00001455986	49363877	49374992
ENSE00003790894	49481914	49482668

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 97.67.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6528 / max 280.7087, expressed in 401 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187742	1.8212	340
187741	0.3491	156
187739	0.1664	10
187740	0.1423	56
187743	0.0622	31
187738	0.0498	11
187737	0.0403	8
187744	0.0215	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	97.67	gold quality
parietal lobe	UBERON:0001872	96.94	gold quality
postcentral gyrus	UBERON:0002581	96.90	gold quality
middle temporal gyrus	UBERON:0002771	96.65	gold quality
superior frontal gyrus	UBERON:0002661	96.03	gold quality
entorhinal cortex	UBERON:0002728	95.49	gold quality
occipital lobe	UBERON:0002021	94.77	gold quality
primary visual cortex	UBERON:0002436	94.48	gold quality
endothelial cell	CL:0000115	94.39	gold quality
cranial nerve II	UBERON:0000941	92.70	gold quality
CA1 field of hippocampus	UBERON:0003881	92.64	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.58	gold quality
orbitofrontal cortex	UBERON:0004167	92.40	gold quality
Brodmann (1909) area 10	UBERON:0013541	90.02	gold quality
frontal cortex	UBERON:0001870	89.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.20	gold quality
prefrontal cortex	UBERON:0000451	88.98	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.96	gold quality
neocortex	UBERON:0001950	88.30	gold quality
frontal pole	UBERON:0002795	88.28	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.22	gold quality
cerebral cortex	UBERON:0000956	88.04	gold quality
dorsal root ganglion	UBERON:0000044	86.97	gold quality
lateral globus pallidus	UBERON:0002476	86.60	gold quality
right frontal lobe	UBERON:0002810	86.44	gold quality
telencephalon	UBERON:0001893	86.15	gold quality
temporal lobe	UBERON:0001871	86.04	gold quality
trigeminal ganglion	UBERON:0001675	85.92	gold quality
ventral tegmental area	UBERON:0002691	85.35	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.74	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	906.02
E-MTAB-9388	yes	159.18
E-ANND-3	yes	7.89
E-MTAB-7316	no	29.58

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFATC3

miRNA regulators (miRDB)

508 targeting KCNB1, 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-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-196A-1-3P	99.99	72.15	2772

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• These results indicate that Kv6.3 is a novel member of the voltage-gated K(+) channel which functions as a modulatory subunit of the Kv2.1 channel. (PMID:11852086)
• characterization of Kv2.1 (PMID:12021261)
• SNAP-25 protein modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus. (PMID:12403834)
• exposed residues in the T1 domain of the N terminus, as well as the CTA domain in the C terminus, are important in determining channel activation kinetics and that these N- and C-terminal regions interact (PMID:12560340)
• direct functional interaction, which is modulated by permeant ions acting at the selectivity filter, between the outer vestibule of the Kv2.1 potassium channel and the voltage sensor. (PMID:15024041)
• There is a central role for developmentally regulated ductus arteriosus SMC O2-sensitive Kv channels in the functional closure of the DA. (PMID:15353504)
• formation of heteromeric Kv2.1/Kv9.3 channels of fixed stoichiometry consisting of three Kv2.1 subunits and one Kv9.3 subunit (PMID:15827117)
• native Kv2.1 polypeptides are more abundantly found in brain (PMID:16008572)
• Results support a model whereby an outer vestibule lysine interferes with K+ flux through the channel, and that the [K+]-dependent change in orientation of this lysine alters single channel conductance by changing the level of this interference. (PMID:16880266)
• structural analysis of the human recombinant Kv2.1 channel (PMID:18212012)
• Proteomic analysis of KV2.1 channel phosphorylation sites determining cell background specific differences in function is reported. (PMID:18690023)
• Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4. (PMID:19074135)
• SUMOylation can exert a strong inhibitory action on the voltage-dependent K(+) channel Kv2.1 and can regulate cellular excitability in native beta-cells. (PMID:19223394)
• rs237484 is in proximity to the potassium voltage gate channel gene (KCNB1) and close to the prostaglandin I2 (prostacyclin) synthase gene (PTGIS). (PMID:19265782)
• KCNB1 may be involved in the development of LV hypertrophy in humans (PMID:19454037)
• in cells either infected with HCV or harboring an HCV subgenomic replicon, oxidative stress failed to initiate apoptosis via Kv2.1. The HCV NS5A protein mediated this effect by inhibiting oxidative stress-induced p38 MAPK phosphorylation of Kv2.1. (PMID:19717445)
• Taken together the observations indicate that, as in Shaker, the quinidine-promoted collapse of Shab G(K) occurs during deactivation of the channels, at the end of each activating pulse, with a probability of 0.1 per pulse at 80 mV. (PMID:20547671)
• Data suggest that unique roles for the clustered Kv2.1 that are independent of K(+) conductance. (PMID:20566856)
• analysis of binding sites of structurally different antiarrhythmics flecainide and propafenone in the subunit interface of potassium channel Kv2.1 (PMID:20709754)
• analysis of of kv2.1 channel diffusion observed by single molecule tracking in live cells (PMID:21095721)
• Functional interactions between residues in the S1, S4, and S5 domains of Kv2.1 in human were studied. (PMID:21455829)
• Here, we show that tyrosine phosphorylation by Src plays a fundamental role in regulating Kv2.1-mediated K(+) current enhancement. We found that the level of expression of the Kv2.1 protein is increased by Src kinase. (PMID:22106938)
• Direct interaction between syntaxin 1A and the Kv2.1 C-terminus is required for efficient insulin exocytosis and glucose-stimulated insulin secretion. (PMID:22411134)
• The results of this study that KCNB1 is a novel mechanism of toxicity in neurodegenerative disease. (PMID:22442077)
• Somatodendritic Kv2.1 channels in the motor neurons of lower spinal cord significantly decrease correlating with experimental autoimmune encephalomyelitis severity. (PMID:22560931)
• The KCNB1 rs1051295 TT genotype is associated with decreased insulin sensitivity. (PMID:23431371)
• In cerebellar granule cells, regulation of Kv2.1 by GDF15 is mediated through the TGFbetaRII-activated Akt/mTOR pathway. (PMID:24597762)
• This study identified a de novo missense mutation in KCNB1 that encodes the KV 2.1 voltage-gated potassium channel. (PMID:25164438)
• Glutamate exposure results in a loss of Kv2.1 clusters in neurons. (PMID:25908859)
• KCNB1 is a strong susceptibility gene for schizophrenia spectrum disorders in humans. (PMID:26240432)
• KCNE5 subunits may affect Kv2.1 homotetramers and Kv2.1/Kv6.4 heterotetramers in vivo, resulting in more tissue-specific fine-tuning mechanisms. (PMID:26242757)
• HO-1 expression can strongly influence apoptosis via CO-mediated regulation of Kv2.1 activity (PMID:26303499)
• The results indicate that KCNB1 is likely associated with metabolic traits that may either predispose or protect from progression to metabolic syndrome. (PMID:26377690)
• Kv2.1 functional aberrations in humans are associated with developmental delay, infantile generalized seizures, hypotonia, and behavioural problems, and also highlight a critical role for Kv2.1 in regulating neuronal firing in neuronal circuits. (PMID:26477325)
• inactivation regulation via Ca(2+)/calmodulin does not interfere with the beta subunit’s enzymatic activity as an NADPH-dependent oxidoreductase, thus rendering the Kvb1.1 subunit a multifunctional receptor (PMID:26487174)
• Epileptic V378A variant in KCNB1 changes ion selectivity, trafficking and expression of Kv2.1 channel. (PMID:26503721)
• KvS subunits modify the pharmacological response of Kv2 subunits when assembled in heterotetramers and illustrate the potential of KvS subunits to provide unique properties to the heterotetramers, as is the case for 4-AP on Kv2.1/Kv6.4 channels. (PMID:26505474)
• Perifosine modified the Kv2.1 inactivation gating resulting in a decrease of the current amplitude. (PMID:26922553)
• KCNB1 is a novel prognostic factor for gliomas that exerts its tumor suppressive function through autophagy induction. (PMID:28144039)
• the first six N-terminal residues including Lys-3, Lys-4, and Leu-5 are critical for controlling functional regulation, but not trafficking, of BK channels. This membrane-distal region has features of an amphipathic helix that is predicted to control the orientation of the first transmembrane-spanning domain (TM1) of the beta1-subunit. (PMID:28373283)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcnb1	ENSDARG00000060095
mus_musculus	Kcnb1	ENSMUSG00000050556
rattus_norvegicus	Kcnb1	ENSRNOG00000046949

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), KCNF1 (ENSG00000162975), KCNV1 (ENSG00000164794), KCNC2 (ENSG00000166006), KCNV2 (ENSG00000168263), KCNG4 (ENSG00000168418), KCNS3 (ENSG00000170745), KCNG3 (ENSG00000171126), KCND3 (ENSG00000171385), KCNA3 (ENSG00000177272), KCNA2 (ENSG00000177301), KCNG2 (ENSG00000178342), KCNA4 (ENSG00000182255), KCNB2 (ENSG00000182674), KCNQ3 (ENSG00000184156), KCND2 (ENSG00000184408), KCNQ5 (ENSG00000185760)

Protein

Protein identifiers

Potassium voltage-gated channel subfamily B member 1 — Q14721 (reviewed: Q14721)

Alternative names: Delayed rectifier potassium channel 1, Voltage-gated potassium channel subunit Kv2.1

All UniProt accessions (3): Q14721, A0A1B0GTM8, A0A1B0GU02

UniProt curated annotations — full annotation on UniProt →

Function. Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain. Plays also a role in the regulation of exocytosis independently of its electrical function. 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. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB2; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1, creating a functionally diverse range of channel complexes. Heterotetrameric channel activity formed with KCNS3 show increased current amplitude with the threshold for action potential activation shifted towards more negative values in hypoxic-treated pulmonary artery smooth muscle cells. Channel properties are also modulated by cytoplasmic ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3, slowing activation and inactivation rate of the delayed rectifier potassium channels. 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. Major contributor to the slowly inactivating delayed-rectifier voltage-gated potassium current in neurons of the central nervous system, sympathetic ganglion neurons, neuroendocrine cells, pancreatic beta cells, cardiomyocytes and smooth muscle cells. Mediates the major part of the somatodendritic delayed-rectifier potassium current in hippocampal and cortical pyramidal neurons and sympathetic superior cervical ganglion (CGC) neurons that acts to slow down periods of firing, especially during high frequency stimulation. Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus. Contributes to the regulation of glucose-induced action potential amplitude and duration in pancreatic beta cells, hence limiting calcium influx and insulin secretion. Plays a role in the regulation of resting membrane potential and contraction in hypoxia-treated pulmonary artery smooth muscle cells. May contribute to the regulation of the duration of both the action potential of cardiomyocytes and the heart ventricular repolarization QT interval. Contributes to the pronounced pro-apoptotic potassium current surge during neuronal apoptotic cell death in response to oxidative injury. May confer neuroprotection in response to hypoxia/ischemic insults by suppressing pyramidal neurons hyperexcitability in hippocampal and cortical regions. Promotes trafficking of KCNG3, KCNH1 and KCNH2 to the cell surface membrane, presumably by forming heterotetrameric channels with these subunits. Plays a role in the calcium-dependent recruitment and release of fusion-competent vesicles from the soma of neurons, neuroendocrine and glucose-induced pancreatic beta cells by binding key components of the fusion machinery in a pore-independent manner.

Subunit / interactions. Homotetramer or heterotetramer with KCNB2. Heterotetramer with non-conducting channel-forming alpha subunits such as KCNF1, KCNG1, KCNG3, KCNG4, KCNH1, KCNH2, KCNS1, KCNS2, KCNS3 and KCNV1. Channel activity is regulated by association with ancillary beta subunits such as AMIGO1, KCNE1, KCNE2 and KCNE3. Interacts with KCNV2. Self-associates (via N-terminus and C-terminus); self-association is required to regulate trafficking, gating and C-terminal phosphorylation-dependent modulation of the channel. Interacts (via C-terminus) with STX1A (via C-terminus); this decreases the rate of channel activation and increases the rate of channel inactivation in pancreatic beta cells, also induces neuronal apoptosis in response to oxidative injury as well as pore-independent enhancement of exocytosis in neuroendocrine cells, chromaffin cells, pancreatic beta cells and from the soma of dorsal root ganglia (DRG) neurons. Interacts (via N-terminus) with SNAP25; this decreases the rate of channel inactivation in pancreatic beta cells and also increases interaction during neuronal apoptosis in a N-methyl-D-aspartate receptor (NMDAR)-dependent manner. Interacts (via N-terminus and C-terminus) with VAMP2 (via N-terminus); stimulates channel inactivation rate. Interacts with CREB1; this promotes channel acetylation in response to stimulation of incretin hormones. Interacts (via N-terminus and C-terminus) with MYL12B. Interacts (via N-terminus) with PIAS3; this increases the number of functional channels at the cell surface. Interacts with SUMO1. Interacts (via phosphorylated form) with PTPRE; this reduces phosphorylation and channel activity in heterologous cells. Interacts (via phosphorylated FFAT motif) with VAPA and VAPB.

Subcellular location. Cell membrane. Perikaryon. Cell projection. Axon. Dendrite. Membrane. Postsynaptic cell membrane. Synapse. Synaptosome. Lateral cell membrane. Sarcolemma.

Tissue specificity. Expressed in neocortical pyramidal cells. Expressed in pancreatic beta cells (at protein level). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland. Expressed in the cortex, amygdala, cerebellum, pons, thalamus, hypothalamus, hippocampus and substantia nigra.

Post-translational modifications. Phosphorylated. Differential C-terminal phosphorylation on a subset of serines allows graded activity-dependent regulation of channel gating in hippocampal neurons. Ser-607 and Tyr-128 are significant sites of voltage-gated regulation through phosphorylation/dephosphorylation activities. Tyr-128 can be phosphorylated by Src and dephosphorylated by cytoplasmic form of the phosphatase PTPRE. CDK5-induced Ser-607 phosphorylation increases in response to acute blockade of neuronal activity. Phosphorylated on Tyr-128 by Src and on Ser-805 by MAPK14/P38MAPK; phosphorylations are necessary and sufficient for an increase in plasma membrane insertion, apoptotic potassium current surge and completion of the neuronal cell death program. Phosphorylated on Ser-520, Ser-607, Ser-656 and Ser-805 by CDK5; phosphorylation is necessary for KCNB1 channel clustering formation. The Ser-607 phosphorylation state differs between KCNB1-containing clusters on the proximal and distal portions of the axon initial segment (AIS). Highly phosphorylated on serine residues in the C-terminal cytoplasmic tail in resting neurons. Phosphorylated in pancreatic beta cells in response to incretin hormones stimulation in a PKA- and RPS6KA5/MSK1-dependent signaling pathway, promoting beta cell survival. Phosphorylation on Ser-567 is reduced during postnatal development with low levels at P2 and P5; levels then increase to reach adult levels by P14. Phosphorylation on Ser-457, Ser-541, Ser-567, Ser-607, Ser-656 and Ser-720 as well as the N-terminal Ser-15 are sensitive to calcineurin-mediated dephosphorylation contributing to the modulation of the voltage-dependent gating properties. Dephosphorylation by phosphatase PTPRE confers neuroprotection by its inhibitory influence on the neuronal apoptotic potassium current surge in a Zn(2+)-dependent manner. Dephosphorylated at Ser-607 by protein phosphatase PPP1CA. Hypoxia-, seizure- or glutamate-induced neuronal activity promote calcium/calcineurin-dependent dephosphorylation resulting in a loss of KCNB1-containing clustering and enhanced channel activity. In response to brain ischemia, Ser-567 and Ser-607 are strongly dephosphorylated while Ser-457 and Ser-720 are less dephosphorylated. In response to brain seizures, phosphorylation levels on Ser-567 and Ser-607 are greatly reduced. Phosphorylated/dephosphorylated by Src or FYN tyrosine-protein kinases and tyrosine phosphatase PTPRE in primary Schwann cells and sciatic nerve tissue. Phosphorylation at Ser-593 of the FFAT motif activates interaction with MOSPD2, VAPA and VAPB. Acetylated. Acetylation occurs in pancreatic beta cells in response to stimulation by incretin hormones in a histone acetyltransferase (HAT)/histone deacetylase (HDAC)-dependent signaling pathway, promoting beta cell survival. Sumoylated on Lys-474, preferentially with SUMO1; sumoylation induces a positive shift in the voltage-dependence of activation and inhibits channel activity. Sumoylation increases the frequency of repetitive action potential firing at the cell surface of hippocampal neurons and decreases its frequency in pancreatic beta cells. Desumoylated by SENP1.

Disease relevance. Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by 12.7 nM stromatoxin 1 (ScTx1), a spider venom toxin of the tarantula S.calceata. Inhibited by 42 nM hanatoxin 1 (HaTx1), a spider venom toxin of the tarantula G.spatulata. Modestly sensitive to millimolar levels of tetraethylammonium (TEA). Modestly sensitive to millimolar levels of 4-aminopyridine (4-AP). Completely insensitive to toxins such as dendrotoxin (DTX) and charybdotoxin (CTX).

Domain organisation. 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. The N-terminal and C-terminal cytoplasmic regions mediate homooligomerization; self-association is required to regulate trafficking, gating and C-terminal phosphorylation-dependent modulation of the channel. The N-terminal cytoplasmic region is important for interaction with other channel-forming alpha subunits and with ancillary beta subunits. The C-terminus is necessary and sufficient for the restricted localization to, and clustering within, both in soma and proximal portions of dendrite of neurons and in lateral membrane of non-neuronal polarized cells. The C-terminus is both necessary and sufficient as a mediator of cholinergic and calcium-stimulated modulation of channel cell membrane clustering localization and activity in hippocampal neurons. The FFAT motif is involved in the interaction with VAPA and VAPB and its phosphorylation regulates these interactions.

Similarity. Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.1/KCNB1 sub-subfamily.

RefSeq proteins (1): NP_004966* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR003131	T1-type_BTB	Domain
IPR003968	K_chnl_volt-dep_Kv	Family
IPR003973	K_chnl_volt-dep_Kv2	Family
IPR004350	K_chnl_volt-dep_Kv2.1	Family
IPR005821	Ion_trans_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR027359	Volt_channel_dom_sf	Homologous_superfamily
IPR028325	VG_K_chnl	Family

Pfam: PF00520, PF02214, PF03521

Catalyzed reactions (Rhea), 1 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (95 total): sequence variant 28, modified residue 19, topological domain 8, region of interest 7, helix 7, transmembrane region 6, mutagenesis site 5, compositionally biased region 4, strand 4, intramembrane region 2, short sequence motif 2, chain 1, cross-link 1, turn 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7RE5	X-RAY DIFFRACTION	2.5
7SPD	X-RAY DIFFRACTION	2.7
9O10	ELECTRON MICROSCOPY	3
9O11	ELECTRON MICROSCOPY	3.3
9O12	ELECTRON MICROSCOPY	4.3
9O13	ELECTRON MICROSCOPY	5.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14721-F1	62.90	0.29

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 (20): 15, 128, 444, 457, 484, 496, 503, 519, 520, 541, 567, 590, 593, 607, 656, 720, 772, 800, 805, 474

Mutagenesis-validated functional residues (5):

Position	Phenotype
71	no effect on channel activity.
74	reduces interaction with kcng1 and self-interaction and impairs plasma membrane subcellular localization, homotetrameriz
75	reduces interaction with kcng1 and self-interaction and impairs plasma membrane subcellular localization, homotetrameriz
79	increases channel activity.
105	reduces channel activity. inhibits interaction with kcng4. impairs hetetrotetramerization with kcng1, kcng3 or kcng4. do

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1296072	Voltage gated Potassium channels
R-HSA-381676	Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-112316	Neuronal System
R-HSA-1296071	Potassium Channels
R-HSA-1430728	Metabolism
R-HSA-163685	Integration of energy metabolism
R-HSA-422356	Regulation of insulin secretion

MSigDB gene sets: 517 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, RNGTGGGC_UNKNOWN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_DEPENDENT_EXOCYTOSIS, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, GOBP_RESPONSE_TO_ACID_CHEMICAL, REACTOME_POTASSIUM_CHANNELS, GOBP_NEURON_MATURATION, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_EXOCYTOSIS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_PEPTIDE_SECRETION

GO Biological Process (27): action potential (GO:0001508), obsolete vesicle docking involved in exocytosis (GO:0006904), glutamate receptor signaling pathway (GO:0007215), positive regulation of norepinephrine secretion (GO:0010701), cellular response to nutrient levels (GO:0031669), positive regulation of catecholamine secretion (GO:0033605), glucose homeostasis (GO:0042593), clustering of voltage-gated potassium channels (GO:0045163), positive regulation of calcium ion-dependent exocytosis (GO:0045956), negative regulation of insulin secretion (GO:0046676), response to axon injury (GO:0048678), protein homooligomerization (GO:0051260), cellular response to calcium ion (GO:0071277), cellular response to glucose stimulus (GO:0071333), potassium ion transmembrane transport (GO:0071805), protein localization to plasma membrane (GO:0072659), positive regulation of protein targeting to membrane (GO:0090314), potassium ion export across plasma membrane (GO:0097623), regulation of action potential (GO:0098900), positive regulation of long-term synaptic depression (GO:1900454), response to L-glutamate (GO:1902065), regulation of motor neuron apoptotic process (GO:2000671), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), exocytosis (GO:0006887), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)

GO Molecular Function (10): SNARE binding (GO:0000149), voltage-gated potassium channel activity (GO:0005249), delayed rectifier potassium channel activity (GO:0005251), outward rectifier potassium channel activity (GO:0015271), potassium channel regulator activity (GO:0015459), transmembrane transporter binding (GO:0044325), protein heterodimerization activity (GO:0046982), monoatomic ion channel activity (GO:0005216), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (22): plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), cell surface (GO:0009986), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), axon (GO:0030424), dendrite (GO:0030425), dendrite membrane (GO:0032590), neuronal cell body membrane (GO:0032809), sarcolemma (GO:0042383), perikaryon (GO:0043204), postsynaptic membrane (GO:0045211), perinuclear region of cytoplasm (GO:0048471), cholinergic synapse (GO:0098981), postsynaptic specialization membrane (GO:0099634), proximal dendrite (GO:1990635), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702), cell projection (GO:0042995), neuron projection (GO:0043005), neuronal cell body (GO:0043025), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Potassium Channels	1
Regulation of insulin secretion	1
Neuronal System	1
Metabolism	1
Integration of energy metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
regulation of membrane potential	2
protein binding	2
potassium channel activity	2
voltage-gated potassium channel activity	2
plasma membrane	2
neuron projection	2
dendrite	2
neuronal cell body	2
synaptic membrane	2
cell surface receptor signaling pathway	1
glutamate receptor activity	1
regulation of norepinephrine secretion	1
positive regulation of catecholamine secretion	1
norepinephrine secretion	1
response to nutrient levels	1
cellular response to stimulus	1
catecholamine secretion	1
regulation of catecholamine secretion	1
positive regulation of amine transport	1
positive regulation of secretion by cell	1
carbohydrate homeostasis	1
neuronal ion channel clustering	1
calcium-ion regulated exocytosis	1
regulation of calcium ion-dependent exocytosis	1
positive regulation of regulated secretory pathway	1
insulin secretion	1
negative regulation of protein secretion	1
regulation of insulin secretion	1
negative regulation of peptide hormone secretion	1
response to wounding	1
protein complex oligomerization	1
response to calcium ion	1
cellular response to metal ion	1
intracellular glucose homeostasis	1
response to glucose	1
cellular response to hexose stimulus	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
protein localization to membrane	1

Protein interactions and networks

STRING

2710 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNB1	STX1A	Q16623	962
KCNB1	KCNS3	Q9BQ31	950
KCNB1	KCNA2	P16389	903
KCNB1	KCNG4	Q8TDN1	860
KCNB1	VAPA	Q9P0L0	847
KCNB1	VAPB	O95292	713
KCNB1	KCNH2	Q12809	683
KCNB1	SNAP25	P13795	673
KCNB1	SLC6A3	Q01959	670
KCNB1	KCNE2	Q9Y6J6	669
KCNB1	KCNAB1	Q14722	664
KCNB1	KCNF1	Q9H3M0	627
KCNB1	SCN8A	Q9UQD0	627
KCNB1	KCNS1	Q96KK3	615
KCNB1	VAMP2	P19065	613

IntAct

114 interactions, top by confidence:

A	B	Type	Score
KCNB1	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
TAX1BP3	KCNB1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
PTPN3	KCNB1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	DLG5	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	RAPGEF6	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
GRIP2	KCNB1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	LDB3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	PTPN13	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	LNX1	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
KCNB1	MPP7	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (53): CALM1 (Reconstituted Complex), KCNB1 (FRET), KCNB1 (FRET), KCNB1 (Reconstituted Complex), STX1A (Reconstituted Complex), VAPA (FRET), VAPB (FRET), KCNB1 (Affinity Capture-Western), KCNB1 (Reconstituted Complex), KCNB1 (Two-hybrid), KCNG3 (Two-hybrid), KCNH1 (Two-hybrid), KCNV2 (Two-hybrid), KCNG3 (Affinity Capture-Western), KCNH1 (Affinity Capture-Western)

ESM2 similar proteins: A0JPH4, A1DWM3, A4QN56, A6H8H5, B0UYT5, B3MG58, B3NSE1, B4GAP7, B4KR05, B4LPX5, B4QBN2, O18868, O60741, P08911, P11483, P15387, P20309, P41984, P59995, Q03717, Q0P5V9, Q14721, Q1LUC3, Q1LUQ4, Q291H8, Q4V887, Q4ZHA6, Q5BKX6, Q5VW38, Q62897, Q63099, Q63881, Q6ZSS7, Q8C145, Q8CBH5, Q8HYZ1, Q91WD0, Q92953, Q95167, Q95L11

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

5 interactions.

A	Effect	B	Mechanism
PTPRA	down-regulates	KCNB1	dephosphorylation
SRC	up-regulates	KCNB1	phosphorylation
PTPRE	“down-regulates activity”	KCNB1	dephosphorylation
KCNB1	“up-regulates quantity”	VAPB	relocalization
KCNB1	“up-regulates quantity”	VAPA	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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
Assembly and cell surface presentation of NMDA receptors	8	41.4×	2e-09
Neurexins and neuroligins	8	32.1×	1e-08
Protein-protein interactions at synapses	5	27.1×	5e-05
RHOB GTPase cycle	5	15.8×	3e-04
RHOC GTPase cycle	5	14.9×	3e-04
RHOA GTPase cycle	6	9.1×	6e-04
RAC1 GTPase cycle	5	6.2×	8e-03
RHO GTPase cycle	5	6.1×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	80.7×	9e-15
receptor clustering	6	52.0×	2e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	6	41.3×	7e-07
protein-containing complex assembly	8	12.7×	2e-05
cell-cell adhesion	8	11.3×	4e-05
chemical synaptic transmission	6	6.4×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	45
Likely pathogenic	53
Uncertain significance	316
Likely benign	285
Benign	67

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031489	NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val)	Pathogenic
1052355	NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro)	Pathogenic
1068345	NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser)	Pathogenic
1184135	NM_004975.4(KCNB1):c.1550C>A (p.Ser517Ter)	Pathogenic
1198561	NM_004975.4(KCNB1):c.1055_1066del (p.Ala352_Asp355del)	Pathogenic
1334708	NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter)	Pathogenic
1427157	NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter)	Pathogenic
1428239	NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu)	Pathogenic
1446788	NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro)	Pathogenic
1452081	NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu)	Pathogenic
1457665	NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys)	Pathogenic
156533	NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg)	Pathogenic
156534	NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile)	Pathogenic
156535	NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg)	Pathogenic
2504540	NM_004975.4(KCNB1):c.1232T>A (p.Ile411Asn)	Pathogenic
2575245	NM_004975.4(KCNB1):c.1141G>A (p.Gly381Arg)	Pathogenic
2709811	NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)	Pathogenic
280403	NM_004975.4(KCNB1):c.820dup (p.Tyr274fs)	Pathogenic
280560	NM_004975.4(KCNB1):c.1108T>C (p.Trp370Arg)	Pathogenic
2811308	NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)	Pathogenic
3062072	NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)	Pathogenic
3897492	NM_004975.4(KCNB1):c.1124T>C (p.Met375Thr)	Pathogenic
449693	NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)	Pathogenic
451018	NM_004975.4(KCNB1):c.1144G>C (p.Asp382His)	Pathogenic
4537900	NM_004975.4(KCNB1):c.1223C>T (p.Pro408Leu)	Pathogenic
4813524	NM_004975.4(KCNB1):c.975GAG[1] (p.Arg326del)	Pathogenic
503951	NM_004975.4(KCNB1):c.661delinsAT (p.Gly221fs)	Pathogenic
503975	NM_004975.4(KCNB1):c.1314_1315del (p.Arg438fs)	Pathogenic
633620	NM_004975.4(KCNB1):c.629C>G (p.Thr210Arg)	Pathogenic
633621	NM_004975.4(KCNB1):c.857del (p.Val286fs)	Pathogenic

SpliceAI

481 predictions. Top by Δscore:

Variant	Effect	Δscore
20:49374989:GGATC:G	acceptor_loss	1.0000
20:49374990:GATC:G	acceptor_loss	1.0000
20:49374991:ATCTG:A	acceptor_loss	1.0000
20:49374992:TCTG:T	acceptor_loss	1.0000
20:49374993:C:CC	acceptor_gain	1.0000
20:49374993:C:CG	acceptor_loss	1.0000
20:49374994:T:G	acceptor_loss	1.0000
20:49481909:CTCA:C	donor_loss	1.0000
20:49481910:TCA:T	donor_loss	1.0000
20:49481911:CA:C	donor_loss	1.0000
20:49481912:A:AC	donor_gain	1.0000
20:49481913:C:CC	donor_gain	1.0000
20:49481913:C:CG	donor_loss	1.0000
20:49374988:AGGAT:A	acceptor_gain	0.9900
20:49374989:GGAT:G	acceptor_gain	0.9900
20:49374990:GAT:G	acceptor_gain	0.9900
20:49374991:AT:A	acceptor_gain	0.9900
20:49374995:G:C	acceptor_gain	0.9900
20:49481912:AC:A	donor_gain	0.9900
20:49481913:CC:C	donor_gain	0.9900
20:49481913:CCT:C	donor_gain	0.9900
20:49481913:CCTT:C	donor_gain	0.9800
20:49481913:CCTTG:C	donor_gain	0.9800
20:49374995:G:GC	acceptor_gain	0.9500
20:49432661:T:A	donor_gain	0.9400
20:49432662:C:CA	donor_gain	0.9300
20:49476360:A:AC	donor_gain	0.9100
20:49476361:C:CC	donor_gain	0.9100
20:49368955:G:C	donor_gain	0.8800
20:49368957:G:T	donor_gain	0.8600

AlphaMissense

5708 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:49374257:C:G	A435P	1.000
20:49374262:C:G	R433P	1.000
20:49374265:C:G	R432P	1.000
20:49374275:C:G	A429P	1.000
20:49374292:T:G	Q423P	1.000
20:49374303:G:C	F419L	1.000
20:49374303:G:T	F419L	1.000
20:49374305:A:G	F419L	1.000
20:49374311:A:G	S417P	1.000
20:49374312:G:C	F416L	1.000
20:49374312:G:T	F416L	1.000
20:49374313:A:C	F416C	1.000
20:49374313:A:G	F416S	1.000
20:49374314:A:G	F416L	1.000
20:49374314:A:T	F416I	1.000
20:49374322:A:T	V413D	1.000
20:49374325:A:C	I412S	1.000
20:49374325:A:T	I412N	1.000
20:49374331:G:C	P410R	1.000
20:49374334:A:T	I409N	1.000
20:49374337:G:C	P408R	1.000
20:49374337:G:T	P408H	1.000
20:49374338:G:A	P408S	1.000
20:49374340:A:C	L407R	1.000
20:49374340:A:G	L407P	1.000
20:49374340:A:T	L407H	1.000
20:49374343:G:T	A406D	1.000
20:49374344:C:G	A406P	1.000
20:49374352:A:C	L403R	1.000
20:49374352:A:G	L403P	1.000

dbSNP variants (sampled 300 via entrez): RS1000011792 (20:49451182 A>G), RS1000028512 (20:49444211 C>T), RS1000051235 (20:49437553 G>A), RS1000092880 (20:49416928 G>T), RS1000094471 (20:49423119 A>T), RS1000121298 (20:49462346 C>T), RS1000126970 (20:49397887 C>T), RS1000151954 (20:49376307 G>A), RS1000153875 (20:49462604 T>C), RS1000167357 (20:49457568 T>G), RS1000168090 (20:49385137 A>C), RS1000183460 (20:49381699 C>T), RS1000184928 (20:49414610 G>A), RS1000214437 (20:49381467 C>A), RS1000215113 (20:49420410 C>A,T)

Disease associations

OMIM: gene MIM:600397 | disease phenotypes: MIM:616056

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental and epileptic encephalopathy, 26	Definitive	Autosomal dominant
complex neurodevelopmental disorder	Definitive	Autosomal dominant
undetermined early-onset epileptic encephalopathy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Mondo (6): developmental and epileptic encephalopathy, 26 (MONDO:0014477), intellectual disability (MONDO:0001071), epilepsy (MONDO:0005027), developmental and epileptic encephalopathy (MONDO:0100620), complex neurodevelopmental disorder (MONDO:0100038), undetermined early-onset epileptic encephalopathy (MONDO:0018614)

Orphanet (3): Non-specific early-onset epileptic encephalopathy (Orphanet:442835), Rare genetic intellectual disability (Orphanet:183757), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000252	Microcephaly
HP:0000348	High forehead
HP:0000494	Downslanted palpebral fissures
HP:0000504	Abnormality of vision
HP:0000508	Ptosis
HP:0000546	Retinal degeneration
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000668	Hypodontia
HP:0000708	Atypical behavior
HP:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001273	Abnormal corpus callosum morphology
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001298	Encephalopathy
HP:0001315	Reduced tendon reflexes
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001344	Absent speech
HP:0001508	Failure to thrive

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001762_772	Obesity-related traits	8.000000e-06
GCST002539_93	Schizophrenia	5.000000e-08
GCST003013_14	White matter hyperintensity burden	6.000000e-06
GCST003013_30	White matter hyperintensity burden	1.000000e-06
GCST004250_17	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	2.000000e-06
GCST006627_77	Diastolic blood pressure	4.000000e-09
GCST006803_52	Schizophrenia	1.000000e-07
GCST008163_309	Height	4.000000e-12
GCST008163_601	Height	8.000000e-06
GCST009600_40	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3.000000e-09
GCST012465_28	Bipolar disorder	4.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005109	energy expenditure
EFO:0005665	white matter hyperintensity measurement
EFO:0007965	response to combination chemotherapy
EFO:0006336	diastolic blood pressure

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D004827	Epilepsy	C10.228.140.490
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2362996 (PROTEIN FAMILY), CHEMBL2363000 (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 (17 total), top 17:

Ligand	Action	Affinity	Parameter
ScTx1	Gating inhibitor	7.9	pIC50
SsmTx-1	Pore blocker	7.4	pIC50
HaTx1	Gating inhibitor	7.38	pKd
RY796	Gating inhibitor	6.6	pIC50
jingzhaotoxin-III	Gating inhibitor	6.4	pIC50
jingzhaotoxin-XI	Gating inhibitor	6.1	pKd
3-bicyclo[2.2.1]hept-2-yl-benzene-1,2-diol	Channel blocker	6.0	pIC50
RY785	Gating inhibitor	5.89	pIC50
DABCO-C16	Channel blocker	5.7	pIC50
SGTx1	Gating inhibitor	5.7	pKd
linoleic acid	Activator	5.6	pEC50
halothane	Channel blocker	3.5	pEC50
fampridine	Pore blocker	3.3	pIC50
tetraethylammonium	Pore blocker	2.0	pIC50
GxTx-1E	Gating inhibitor	2.0	pIC50
Na+	Pore blocker	1.6	pIC50
Ba2+	Channel blocker	1.5	pKd

ChEMBL bioactivities

28 potent at pChembl≥5 of 28 total, top 28 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
7.30	IC50	50	nM	CHEMBL5574868
7.16	IC50	70	nM	CHEMBL5573337
7.10	IC50	80	nM	CHEMBL5566791
6.60	IC50	250	nM	CHEMBL5549888
6.52	IC50	300	nM	CHEMBL5570192
6.50	IC50	320	nM	CHEMBL5574133
6.50	IC50	320	nM	CHEMBL5570536
6.47	IC50	337	nM	CHEMBL5570619
6.43	IC50	370	nM	CHEMBL5569315
6.41	IC50	390	nM	CHEMBL5590036
6.37	IC50	430	nM	CHEMBL5574578
6.37	IC50	430	nM	CHEMBL5570316
6.32	IC50	480	nM	CHEMBL5565837
6.28	IC50	530	nM	CHEMBL5563908
6.27	IC50	540	nM	CHEMBL5574392
6.26	IC50	550	nM	CHEMBL5571030
6.23	IC50	590	nM	CHEMBL3577208
6.23	IC50	590	nM	CHEMBL5571436
6.18	IC50	660	nM	CHEMBL5565317
6.00	IC50	1000	nM	CHEMBL3577209
6.00	IC50	1000	nM	CHEMBL5595709
5.96	IC50	1100	nM	CHEMBL5571104
5.96	IC50	1100	nM	CHEMBL5565130
5.52	IC50	3000	nM	CHEMBL5583837
5.45	IC50	3550	nM	CHEMBL5590132
5.00	IC50	1e+04	nM	CHEMBL5565384

PubChem BioAssay actives

28 with measured affinity, of 97 total; 27 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
2-ethoxy-N-[1-(6-methoxy-2-pyridinyl)ethyl]-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.0500	uM
2-ethoxy-N-[1-[3-(methylamino)phenyl]ethyl]-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.0700	uM
2-ethoxy-N-[1-(3-methylphenyl)ethyl]-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.0800	uM
N-[1-[3-(difluoromethoxy)phenyl]ethyl]-2-ethoxy-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.2500	uM
N-[[3-(difluoromethoxy)phenyl]methyl]-2-ethoxy-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.3000	uM
N-[1-[3-(azetidin-1-yl)phenyl]ethyl]-2-ethoxy-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.3200	uM
2-ethoxy-N-[1-(6-fluoro-2-pyridinyl)ethyl]-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.3200	uM
2-ethoxy-5-(2-methylpropanoylamino)-N-[[3-(trifluoromethoxy)phenyl]methyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.3370	uM
2-ethoxy-N-[1-(3-methoxyphenyl)ethyl]-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.3700	uM
2-(dimethylamino)-5-(2-methylpropanoylamino)-N-[[3-(1,3-thiazol-2-yl)phenyl]methyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.3900	uM
2-ethoxy-5-(2-methylpropanoylamino)-N-[1-[3-(1,3-thiazol-2-yl)phenyl]ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.4300	uM
2-ethoxy-N-[1-(2-methoxy-4-pyridinyl)ethyl]-5-(2-methylpropanoylamino)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.4300	uM
2-(dimethylamino)-5-(2-methylpropanoylamino)-N-(1-phenylethyl)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.4800	uM
2-ethoxy-5-(2-methylpropanoylamino)-N-[[3-(1,3-thiazol-2-yl)phenyl]methyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.5300	uM
2-(dimethylamino)-5-(2-methylpropanoylamino)-N-(pyridin-2-ylmethyl)benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.5400	uM
5-(cyclobutanecarbonylamino)-2-ethoxy-N-[1-[3-(1,3-thiazol-2-yl)phenyl]ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.5500	uM
2-[2-(2,6-dimethoxybenzoyl)-3-hydroxy-6-methoxy-5-methylphenyl]-3-(2,6-dimethoxyphenyl)-4-hydroxy-7-methoxy-6-methylinden-1-one	1225481: Inhibition of Kv2.1 channel in human INS1 cells assessed as inhibition of outward K+ current by electrophysiology/patch clamp technique	ic50	0.5900	uM
5-(2-methylpropanoylamino)-2-propoxy-N-[1-[3-(1,3-thiazol-2-yl)phenyl]ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.5900	uM
2-ethoxy-5-(2-methylpropanoylamino)-N-[1-(3-pyrimidin-2-ylphenyl)ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	0.6600	uM
1,2-bis[2-(2,6-dimethoxybenzoyl)-3-hydroxy-6-methoxy-5-methylphenyl]ethanone	1225481: Inhibition of Kv2.1 channel in human INS1 cells assessed as inhibition of outward K+ current by electrophysiology/patch clamp technique	ic50	1.0000	uM
propan-2-yl N-[4-ethoxy-3-[1-[3-(1,3-thiazol-2-yl)phenyl]ethylcarbamoyl]phenyl]carbamate	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	1.0000	uM
ethyl N-[4-ethoxy-3-[1-[3-(1,3-thiazol-2-yl)phenyl]ethylcarbamoyl]phenyl]carbamate	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	1.1000	uM
5-(cyclopropanecarbonylamino)-2-ethoxy-N-[1-[3-(1,3-thiazol-2-yl)phenyl]ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	1.1000	uM
2-methoxy-5-(2-methylpropanoylamino)-N-[1-[3-(1,3-thiazol-2-yl)phenyl]ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	3.0000	uM
2-(dimethylamino)-5-(2-methylpropanoylamino)-N-[(3-phenylphenyl)methyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	3.5500	uM
2-ethoxy-5-(ethylsulfonylamino)-N-[1-[3-(1,3-thiazol-2-yl)phenyl]ethyl]benzamide	2093281: Inhibition of human KV2.1 stably expressed in HEK293 cells by whole cell patch-clamp assay	ic50	10.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression, increases methylation	7
Tetrachlorodibenzodioxin	decreases expression, decreases reaction, affects expression	3
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Dexamethasone	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
lead acetate	decreases expression	1
trichostatin A	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
jinfukang	increases expression, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance	1
Amphotericin B	decreases expression	1
Arsenic	affects methylation	1
Ascorbic Acid	affects cotreatment, increases expression	1
Atrazine	decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression, decreases reaction	1
Formaldehyde	decreases expression	1

ChEMBL screening assays

28 unique, capped per target: 27 binding, 1 toxicity

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

Cellosaurus cell lines

4 cell lines: 3 spontaneously immortalized cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A9Z5	ZJSHi001-A	Induced pluripotent stem cell	Female
CVCL_C0Y3	B’SYS CHO Kv2.1	Spontaneously immortalized cell line	Female
CVCL_D1K2	PrecisION hKv2.1-CHO	Spontaneously immortalized cell line	Female
CVCL_D1K3	PrecisION hKv2.1/Kv9.2-CHO	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1