Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3745
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNB1
Synonyms (NCBI Gene) Gene synonyms aliases
DEE26, DRK1, Kv2.1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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, neuro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1568658507 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT707271 hsa-miR-548c-3p HITS-CLIP 21572407
MIRT707269 hsa-miR-5580-3p HITS-CLIP 21572407
MIRT707270 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT707268 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT707267 hsa-miR-4639-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000149 Function SNARE binding IEA
GO:0001508 Process Action potential IBA
GO:0001508 Process Action potential IDA 19223394
GO:0001508 Process Action potential IEA
GO:0005216 Function Monoatomic ion channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600397 6231 ENSG00000158445
Protein
UniProt ID Q14721
Protein name Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h-DRK1) (Voltage-gated potassium channel subunit Kv2.1)
Protein 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) repola
PDB 7RE5 , 7SPD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 33 132 BTB/POZ domain Domain
PF00520 Ion_trans 188 424 Ion transport protein Family
PF03521 Kv2channel 467 619 Kv2 voltage-gated K+ channel Family
PF03521 Kv2channel 637 685 Kv2 voltage-gated K+ channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neocortical pyramidal cells (PubMed:24477962). Expressed in pancreatic beta cells (at protein level) (PubMed:12403834, PubMed:14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed:19074
Sequence
MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKL
RDCNTHDSLLEVCDDYSLDDNEYFFDRHPGAFTSILNFYRTGRLHMMEEMCALSFSQELD
YWGIDEIYLESC
CQARYHQKKEQMNEELKREAETLREREGEEFDNTCCAEKRKKLWDLLE
KPNSSVAAKILAIISIMFIVLSTIALSLNTLPELQSLDEFGQSTDNPQLAHVEAVCIAWF
TMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFR
IMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTK
FKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNFSEFY
KEQK
RQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQD
NHLSPNKWKWTKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLNVQQLEDMYNKMAKTQ
SQPILNTKESAAQSKPKEELEMESIPSPVAPLPTRTEGVIDMRSMSSIDSFISCATDFPE
ATRFSHSPLTSLPSKTGGS
TAPEVGWRGALGASGGRFVEANPSPDASQHSSFFIESPKSS
MKTNNPLKLRALKVNFMEGDPSPLL
PVLGMYHDPLRNRGSAAAAVAGLECATLLDKAVLS
PESSIYTTASAKTPPRSPEKHTAIAFNFEAGVHQYIDADTDDEGQLLYSVDSSPPKSLPG
STSPKFSTGTRSEKNHFESSPLPTSPKFLRQNCIYSTEALTGKGPSGQEKCKLENHISPD
VRVLPGGGAHGSTRDQSI
Sequence length 858
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Voltage gated Potassium channels
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
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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
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 26 rs587777850, rs1601071085, rs1057518621, rs1601071747, rs1555889127, rs1060499592, rs1601072041, rs1555889162, rs1569017015, rs1569017205, rs1555889103, rs1064794764, rs1601070652, rs959316981, rs1555889084
View all (9 more)
N/A
Epileptic encephalopathy epileptic encephalopathy rs1569017015, rs1569017205, rs1179351306, rs1569017045, rs1569017257, rs959316981, rs1569017073, rs1555889130, rs1569017337, rs1555889108, rs1555889090, rs1555889162, rs1569017143, rs1555889127, rs1568658507
View all (1 more)
N/A
Epileptic Encephalopathy early infantile epileptic encephalopathy with suppression bursts rs1060499592, rs1555889127 N/A
Mental retardation intellectual disability rs1569017160, rs1555889127, rs1569016820, rs1601071971, rs1569017025, rs959316981, rs1555889130, rs781663444 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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Bipolar Disorder Bipolar I disorder, Bipolar disorder N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 32954514
Brain Diseases Associate 26477325, 33607466
Bruxism Associate 29322350
Carcinoma Renal Cell Associate 28607108
Cognition Disorders Associate 30958317
Colorectal Neoplasms Associate 32484056, 33172410, 33267786
Developmental Disabilities Associate 26477325, 28806457, 32954514
Diabetes Gestational Associate 29352517
Diabetes Gestational Stimulate 29352517
Diabetes Mellitus Associate 28607108