KCNAB3
gene geneOn this page
Also known as AKR6A9KCNA3B
Summary
KCNAB3 (potassium voltage-gated channel subfamily A regulatory beta subunit 3, HGNC:6230) is a protein-coding gene on chromosome 17p13.1, encoding Voltage-gated potassium channel subunit beta-3 (O43448). Regulatory subunit of the voltage-gated potassium (Kv) channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunit.
This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit.
Source: NCBI Gene 9196 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 9
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_004732
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6230 |
| Approved symbol | KCNAB3 |
| Name | potassium voltage-gated channel subfamily A regulatory beta subunit 3 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AKR6A9, KCNA3B |
| Ensembl gene | ENSG00000170049 |
| Ensembl biotype | protein_coding |
| OMIM | 604111 |
| Entrez | 9196 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000303790, ENST00000570587, ENST00000570852, ENST00000572275, ENST00000574006, ENST00000576981, ENST00000910604, ENST00000910605, ENST00000939113, ENST00000954807
RefSeq mRNA: 1 — MANE Select: NM_004732
NM_004732
CCDS: CCDS11124
Canonical transcript exons
ENST00000303790 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001144991 | 7925097 | 7925183 |
| ENSE00001300284 | 7921859 | 7923179 |
| ENSE00001326879 | 7929194 | 7929856 |
| ENSE00003461556 | 7927344 | 7927423 |
| ENSE00003487641 | 7927783 | 7927826 |
| ENSE00003508312 | 7924415 | 7924500 |
| ENSE00003520196 | 7924145 | 7924265 |
| ENSE00003599307 | 7923456 | 7923544 |
| ENSE00003623376 | 7925931 | 7925975 |
| ENSE00003624606 | 7927657 | 7927694 |
| ENSE00003643707 | 7923711 | 7923831 |
| ENSE00003648219 | 7925683 | 7925726 |
| ENSE00003679671 | 7923968 | 7924062 |
| ENSE00003689309 | 7926059 | 7926103 |
Expression profiles
Bgee: expression breadth ubiquitous, 166 present calls, max score 96.53.
FANTOM5 (CAGE): breadth broad, TPM avg 2.7819 / max 163.1432, expressed in 542 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 164333 | 2.7819 | 542 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 96.53 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.05 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.81 | gold quality |
| cerebellum | UBERON:0002037 | 92.70 | gold quality |
| body of uterus | UBERON:0009853 | 89.84 | gold quality |
| ventricular zone | UBERON:0003053 | 88.69 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.96 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.38 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.52 | gold quality |
| cingulate cortex | UBERON:0003027 | 84.47 | gold quality |
| left uterine tube | UBERON:0001303 | 82.74 | gold quality |
| cortical plate | UBERON:0005343 | 82.27 | gold quality |
| granulocyte | CL:0000094 | 81.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 81.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 79.68 | gold quality |
| metanephros cortex | UBERON:0010533 | 79.58 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 79.46 | gold quality |
| neocortex | UBERON:0001950 | 79.08 | gold quality |
| sural nerve | UBERON:0015488 | 78.51 | gold quality |
| frontal cortex | UBERON:0001870 | 77.92 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.71 | gold quality |
| adenohypophysis | UBERON:0002196 | 77.18 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 77.10 | gold quality |
| peripheral nervous system | UBERON:0000010 | 76.66 | gold quality |
| tibial nerve | UBERON:0001323 | 76.66 | gold quality |
| pituitary gland | UBERON:0000007 | 76.47 | gold quality |
| amygdala | UBERON:0001876 | 76.01 | gold quality |
| right ovary | UBERON:0002118 | 75.76 | gold quality |
| cerebral cortex | UBERON:0000956 | 75.26 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 75.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
60 targeting KCNAB3, 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-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-578 | 99.46 | 68.36 | 1787 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-1206 | 99.30 | 69.32 | 1016 |
| HSA-MIR-1264 | 99.25 | 66.81 | 1317 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-376A-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-376B-3P | 99.06 | 69.17 | 1128 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-7851-3P | 98.72 | 64.88 | 980 |
Literature-anchored findings (GeneRIF, showing 1)
- H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus. (PMID:32990398)
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | KCNAB3 | ENSDARG00000074320 |
| mus_musculus | Kcnab3 | ENSMUSG00000018470 |
| rattus_norvegicus | Kcnab3 | ENSRNOG00000008480 |
| caenorhabditis_elegans | WBGENE00009980 | |
| caenorhabditis_elegans | WBGENE00009981 | |
| caenorhabditis_elegans | WBGENE00012722 | |
| caenorhabditis_elegans | WBGENE00012723 | |
| caenorhabditis_elegans | WBGENE00015307 |
Paralogs (16): AKR7A2 (ENSG00000053371), KCNAB2 (ENSG00000069424), AKR1B1 (ENSG00000085662), AKR1A1 (ENSG00000117448), AKR1D1 (ENSG00000122787), AKR1C2 (ENSG00000151632), AKR7A3 (ENSG00000162482), AKR1E2 (ENSG00000165568), KCNAB1 (ENSG00000169282), AKR1C1 (ENSG00000187134), AKR1C3 (ENSG00000196139), AKR1B10 (ENSG00000198074), AKR1C4 (ENSG00000198610), AKR7L (ENSG00000211454), AKR1B15 (ENSG00000227471), AKR1C8 (ENSG00000264006)
Protein
Protein identifiers
Voltage-gated potassium channel subunit beta-3 — O43448 (reviewed: O43448)
Alternative names: K(+) channel subunit beta-3, Kv-beta-3
All UniProt accessions (3): O43448, I3L0P1, I3L4I8
UniProt curated annotations — full annotation on UniProt →
Function. Regulatory subunit of the voltage-gated potassium (Kv) channels composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunit. The beta-3/KCNAB3 subunit may mediate closure of potassium channels. Increases inactivation of Kv1.5/KCNA5 alpha subunit-containing channels. May display nicotinamide adenine dinucleotide phosphate (NADPH)-dependent aldoketoreductase activity. The binding of oxidized and reduced NADP(H) cofactors may be required for the regulation of potassium channel activity.
Subunit / interactions. Forms heteromultimeric complex with alpha subunits. Interacts with KCNA5 and KCNB2.
Subcellular location. Cytoplasm.
Tissue specificity. Brain specific. Most prominent expression in cerebellum. Weaker signals detected in cortex, occipital lobe, frontal lobe and temporal lobe. Not detected in spinal cord, heart, lung, liver, kidney, pancreas, placenta and skeletal muscle.
Similarity. Belongs to the shaker potassium channel beta subunit family.
RefSeq proteins (1): NP_004723* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005399 | K_chnl_volt-dep_bsu_KCNAB-rel | Family |
| IPR005402 | K_chnl_volt-dep_bsu_KCNAB3 | Family |
| IPR005983 | K_chnl_volt-dep_bsu_KCNAB | Family |
| IPR023210 | NADP_OxRdtase_dom | Domain |
| IPR036812 | NAD(P)_OxRdtase_dom_sf | Homologous_superfamily |
Pfam: PF00248
UniProt features (29 total): binding site 19, sequence conflict 5, compositionally biased region 2, chain 1, region of interest 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43448-F1 | 85.55 | 0.71 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 131 (proton donor/acceptor)
Ligand- & substrate-binding residues (19): 229; 230; 255; 284; 286; 287; 288; 289; 295; 305; 364; 366 …
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1296072 | Voltage gated Potassium channels |
| R-HSA-112316 | Neuronal System |
| R-HSA-1296071 | Potassium Channels |
MSigDB gene sets: 97 (showing top):
GOBP_POTASSIUM_ION_TRANSPORT, REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS, STAEGE_EWING_FAMILY_TUMOR, RORA1_01, REACTOME_POTASSIUM_CHANNELS, AAGCCAT_MIR135A_MIR135B, GOBP_MONOATOMIC_CATION_TRANSPORT, DOUGLAS_BMI1_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, EGR1_01, GOBP_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, AP2_Q6_01, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_POTASSIUM_ION_TRANSPORT
GO Biological Process (5): potassium ion transport (GO:0006813), regulation of potassium ion transmembrane transport (GO:1901379), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), potassium ion transmembrane transport (GO:0071805)
GO Molecular Function (5): voltage-gated potassium channel activity (GO:0005249), potassium channel regulator activity (GO:0015459), oxidoreductase activity (GO:0016491), transmembrane transporter binding (GO:0044325), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), plasma membrane (GO:0005886), voltage-gated potassium channel complex (GO:0008076), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Potassium Channels | 1 |
| Neuronal System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| potassium channel activity | 2 |
| cellular anatomical structure | 2 |
| metal ion transport | 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 |
| potassium ion transport | 1 |
| monoatomic cation transmembrane transport | 1 |
| voltage-gated monoatomic cation channel activity | 1 |
| ion channel regulator activity | 1 |
| catalytic activity | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| potassium channel complex | 1 |
| plasma membrane protein complex | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
1731 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCNAB3 | KCNA4 | P22459 | 897 |
| KCNAB3 | KCNA5 | P22460 | 836 |
| KCNAB3 | KCNB2 | Q92953 | 791 |
| KCNAB3 | PANX1 | Q96RD7 | 739 |
| KCNAB3 | KCNA1 | Q09470 | 728 |
| KCNAB3 | KCNA2 | P16389 | 711 |
| KCNAB3 | KCNV1 | Q6PIU1 | 611 |
| KCNAB3 | KCNH3 | Q9ULD8 | 591 |
| KCNAB3 | KCNK6 | Q9Y257 | 536 |
| KCNAB3 | KCNC1 | P48547 | 507 |
| KCNAB3 | KCNG1 | Q9UIX4 | 507 |
| KCNAB3 | KCNK13 | Q9HB14 | 506 |
| KCNAB3 | CACNB1 | Q02641 | 485 |
| KCNAB3 | KCNF1 | Q9H3M0 | 478 |
| KCNAB3 | AKR1D1 | P51857 | 476 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAPK8 | WDR62 | psi-mi:“MI:0914”(association) | 0.730 |
| KCNAB3 | GMDS | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNAB3 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCNAB3 | KCNAB2 | psi-mi:“MI:0914”(association) | 0.500 |
| KCNAB3 | KCNAB2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| MAPK8 | WDR62 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNAB3 | DHPS | psi-mi:“MI:0914”(association) | 0.350 |
| KCNAB3 | GMDS | psi-mi:“MI:0915”(physical association) | 0.000 |
| KCNAB3 | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): KCNAB3 (Affinity Capture-MS), KCNAB2 (Affinity Capture-MS), HDAC6 (Affinity Capture-MS), DHPS (Affinity Capture-MS), MAD1L1 (Affinity Capture-MS), KCNAB2 (Affinity Capture-MS), KCNAB3 (Affinity Capture-MS), HDAC6 (Affinity Capture-MS), MAD1L1 (Affinity Capture-MS), DHPS (Affinity Capture-MS), KCNAB3 (Affinity Capture-MS), KCNAB3 (Two-hybrid), PLEKHF2 (Two-hybrid), KCNAB2 (Affinity Capture-MS), KCNAB3 (Affinity Capture-MS)
ESM2 similar proteins: A4K436, A6NMX2, F1QWK4, O43272, O43448, O54783, O95154, O97583, P17516, P28492, P38918, P52849, P52850, P70694, P97382, Q0VGM9, Q13011, Q148G5, Q1JQD7, Q1XAA8, Q3KRC5, Q3ZKN0, Q571F8, Q5E9M9, Q5I0K3, Q5R7C9, Q5RE34, Q5RFG0, Q5RJZ1, Q5RKZ7, Q63494, Q64323, Q6H1L8, Q6PCB7, Q6W8P9, Q8CG45, Q8CG76, Q8IXI1, Q8N0X4, Q8NHP1
Diamond homologs: A0A0U5GHU6, B9WYE6, C7ZBE5, C8VQ93, E9FCP6, G2TRN6, M2YMU7, O05408, O43448, O59826, P40690, P43547, P54569, P63143, P63144, P77256, P77735, Q01333, Q01752, Q02895, Q13303, Q14722, Q28528, Q3L181, Q4PJK1, Q75ZG2, Q75ZG3, Q9P7U2, Q9PTM4, Q9PWR1, Q9XT31, A2XRZ0, B8ASB2, C6TBN2, F4HPY8, M2YJQ2, O22707, O23016, O43488, O95154
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2305 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:7923552:C:CT | acceptor_gain | 1.0000 |
| 17:7923553:A:T | acceptor_gain | 1.0000 |
| 17:7923827:TAGCC:T | acceptor_gain | 1.0000 |
| 17:7923828:AGCC:A | acceptor_gain | 1.0000 |
| 17:7923829:GCC:G | acceptor_gain | 1.0000 |
| 17:7923830:CC:C | acceptor_gain | 1.0000 |
| 17:7923830:CCC:C | acceptor_gain | 1.0000 |
| 17:7923831:CC:C | acceptor_gain | 1.0000 |
| 17:7923831:CCTGG:C | acceptor_loss | 1.0000 |
| 17:7923832:C:CC | acceptor_gain | 1.0000 |
| 17:7923832:C:T | acceptor_gain | 1.0000 |
| 17:7923833:T:G | acceptor_loss | 1.0000 |
| 17:7923840:C:CT | acceptor_gain | 1.0000 |
| 17:7923840:C:T | acceptor_gain | 1.0000 |
| 17:7923841:A:T | acceptor_gain | 1.0000 |
| 17:7924144:CCAAT:C | donor_gain | 1.0000 |
| 17:7924148:T:C | donor_gain | 1.0000 |
| 17:7925095:AC:A | donor_gain | 1.0000 |
| 17:7925096:CC:C | donor_gain | 1.0000 |
| 17:7925099:T:A | donor_gain | 1.0000 |
| 17:7925929:A:AC | donor_gain | 1.0000 |
| 17:7925929:ACTGT:A | donor_gain | 1.0000 |
| 17:7925930:C:CC | donor_gain | 1.0000 |
| 17:7925930:CTGT:C | donor_gain | 1.0000 |
| 17:7925930:CTGTC:C | donor_gain | 1.0000 |
| 17:7927322:G:C | donor_gain | 1.0000 |
| 17:7927342:A:AC | donor_gain | 1.0000 |
| 17:7927342:ACTTT:A | donor_gain | 1.0000 |
| 17:7927343:C:CC | donor_gain | 1.0000 |
| 17:7927343:CTTTC:C | donor_gain | 1.0000 |
AlphaMissense
2584 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:7924450:A:G | W226R | 0.989 |
| 17:7924450:A:T | W226R | 0.989 |
| 17:7925696:C:A | K175N | 0.988 |
| 17:7925696:C:G | K175N | 0.988 |
| 17:7927398:G:T | A117D | 0.988 |
| 17:7924447:C:A | G227W | 0.986 |
| 17:7925702:G:C | S173R | 0.986 |
| 17:7925702:G:T | S173R | 0.986 |
| 17:7925704:T:G | S173R | 0.986 |
| 17:7923719:A:G | L347P | 0.983 |
| 17:7924249:G:T | A243D | 0.983 |
| 17:7923544:G:T | A350E | 0.982 |
| 17:7926063:A:G | W149R | 0.982 |
| 17:7926063:A:T | W149R | 0.982 |
| 17:7927377:A:G | L124P | 0.982 |
| 17:7924435:A:G | W231R | 0.981 |
| 17:7924435:A:T | W231R | 0.981 |
| 17:7925159:A:G | L188P | 0.980 |
| 17:7924489:C:G | A213P | 0.979 |
| 17:7927374:A:G | F125S | 0.979 |
| 17:7926086:C:T | G141E | 0.977 |
| 17:7925141:T:A | D194V | 0.976 |
| 17:7925698:T:C | K175E | 0.976 |
| 17:7926086:C:A | G141V | 0.976 |
| 17:7924491:C:G | R212P | 0.975 |
| 17:7925135:A:T | V196D | 0.975 |
| 17:7925162:C:G | R187P | 0.974 |
| 17:7927797:G:A | S91F | 0.974 |
| 17:7924446:C:T | G227E | 0.973 |
| 17:7926077:A:G | L144P | 0.973 |
dbSNP variants (sampled 300 via entrez): RS1000043109 (17:7926325 G>A), RS1000263522 (17:7926401 G>A), RS1001142904 (17:7930848 A>T), RS1001270703 (17:7924968 A>C,G), RS1001324997 (17:7929256 T>G), RS1001342729 (17:7925247 A>G), RS1001691331 (17:7922987 G>A,C,T), RS1002148154 (17:7928000 A>G), RS1002550957 (17:7929527 C>T), RS1002717824 (17:7921660 T>C), RS1002822579 (17:7930937 T>C), RS1003103856 (17:7924609 T>A,C), RS1003146868 (17:7928298 TC>T), RS1003437872 (17:7929299 C>A,G,T), RS1003589009 (17:7928566 C>G,T)
Disease associations
OMIM: gene MIM:604111 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal dominant |
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006190_14 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 7.000000e-18 |
| GCST006190_56 | Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) | 2.000000e-21 |
| GCST006192_58 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 2.000000e-12 |
| GCST006192_85 | Systolic blood pressure x smoking status (ever vs never) interaction (2df test) | 3.000000e-07 |
| GCST006193_47 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 4.000000e-18 |
| GCST006193_85 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 1.000000e-20 |
| GCST006195_36 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 4.000000e-07 |
| GCST006195_77 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 2.000000e-12 |
| GCST010002_119 | Refractive error | 3.000000e-22 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006336 | diastolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006335 | systolic blood pressure |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
15 total (human), top 15 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| kojic acid | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arbutin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_YA60 | IDG-HEK293T-KCNAB3-V5-OE | Transformed cell line | Female |
Clinical trials (associated diseases)
202 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, |
| 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 |
| 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 |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
- Associated diseases: neurodevelopmental disorder