Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3786
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily Q member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNQ3
Synonyms (NCBI Gene) Gene synonyms aliases
BFNC2, EBN2, KV7.3
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel cur
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs118192247 C>T Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs118192248 T>A,C Uncertain-significance, pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs118192249 A>G Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs118192250 C>A Pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
rs118192251 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT623501 hsa-miR-6752-3p HITS-CLIP 23824327
MIRT625641 hsa-miR-4469 HITS-CLIP 23824327
MIRT625640 hsa-miR-7113-3p HITS-CLIP 23824327
MIRT625639 hsa-miR-4287 HITS-CLIP 23824327
MIRT625638 hsa-miR-4685-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
REST Repression 20926649
SP1 Activation 20926649
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005244 Function Voltage-gated monoatomic ion channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IBA
GO:0005249 Function Voltage-gated potassium channel activity IDA 11159685, 27564677, 28793216
GO:0005249 Function Voltage-gated potassium channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602232 6297 ENSG00000184156
Protein
UniProt ID O43525
Protein name Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)
Protein function Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:16319223, PubMed:27564677, PubMed:28793216, PubMed:9872318). M-channel is composed of po
PDB 5J03
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 121 363 Ion transport protein Family
PF03520 KCNQ_channel 446 650 KCNQ voltage-gated potassium channel Family
PF11956 KCNQC3-Ank-G_bd 770 866 Ankyrin-G binding motif of KCNQ2-3 Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in brain.
Sequence
MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAG
ADKDGTLLLEGGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRG
WALLYHALVFLIVLGCLILAVLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGC
CCRYKGWRGRLKFARKPLCMLDIFVLIASVPVVAVGNQGNVLATSLRSLRFLQILRMLRM
DRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVYLVEKDVPEVDAQGEEMKEEF
ETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGILGSGLALKVQ
EQH
RQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAAS
SQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKA
YAFWQSSEDAGTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRP
YDVKDVIEQYSAGHLDMLSRIKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPR
NEPYVARPSTSEIEDQSMMGKFVKVERQVQDMGKKLDFLVDMHMQHMERL
QVQVTEYYPT
KGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFHQVTIDKVSPYGFFAHDPVNL
PRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPYSDRISPRQRR
SITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDT
DTDPFTPSGSMPLSSTGDGISDSVWT
PSNKPI
Sequence length 872
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cholinergic synapse   Voltage gated Potassium channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, severe rs796052676 N/A
Seizure Seizures, benign familial neonatal, 2, seizures, benign familial infantile, 5 rs118192250, rs1162306056, rs118192249, rs118192251, rs796052676, rs1064794632, rs1554626549, rs1554627439, rs1459374430, rs1586800133 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Epilepsy benign familial infantile epilepsy N/A N/A GenCC
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 37648039
Amyotrophic Lateral Sclerosis Associate 34107252
Autism Spectrum Disorder Associate 31177578
Autistic Disorder Associate 31177578
Bipolar Disorder Associate 21176025
Brain Diseases Associate 29852413, 31177578, 33784504
Carpal Tunnel Syndrome Associate 9579905
Convulsions benign familial neonatal dominant form Associate 25052858, 25524373, 29852413, 33784504
Developmental Disabilities Associate 29852413, 31177578, 31238879, 33004838, 33799276
Diabetic Neuropathies Associate 36430572