Gene Gene information from NCBI Gene database.
Entrez ID 3745
Gene name Potassium voltage-gated channel subfamily B member 1
Gene symbol KCNB1
Synonyms (NCBI Gene)
DEE26DRK1Kv2.1
Chromosome 20
Chromosome location 20q13.13
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs1568658507 T>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
419
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600397 6231 ENSG00000158445
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
733
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy Likely pathogenic; Pathogenic rs1060499592, rs1555889127, rs1984233764, rs1984259606 RCV001249557
RCV001249561
RCV001249558
RCV001249556
Developmental and epileptic encephalopathy, 26 Pathogenic; Likely pathogenic rs1984249721, rs2146813554, rs1984261678, rs2146813951, rs1984259606, rs2146813259, rs2146813598, rs1555889162, rs2146813954, rs2146812849, rs2146813695, rs2146813797, rs2146814335, rs587777848, rs587777849
View all (45 more)
RCV001333329
RCV001360516
RCV001366969
RCV001379870
RCV001378612
RCV002495902
RCV001814889
RCV001936208
RCV001953876
RCV001996622
RCV001927548
RCV002007541
RCV001945843
RCV002046763
RCV000144689
RCV000144690
RCV000144691
RCV005859357
RCV002249083
RCV002249084
RCV002288994
RCV002466342
RCV002867065
RCV003019502
RCV003140631
RCV000528443
RCV005102889
RCV003333643
RCV003335890
RCV003586797
RCV003587933
RCV003749462
RCV003985182
RCV003992122
RCV004556143
RCV000699040
RCV000477903
RCV000763447
RCV000799571
RCV000688503
RCV000557112
RCV001868163
RCV000652424
RCV000652422
RCV000656399
RCV000677688
RCV000990311
RCV003224879
RCV001869161
RCV005870859
RCV001331324
RCV005056544
RCV000816106
RCV000985159
RCV000990312
RCV000990313
RCV001027969
RCV001065353
RCV001172333
RCV001213891
RCV001213195
RCV001230456
RCV001232315
RCV002290661
RCV002246234
RCV001376121
developmental encephalopathy with epilepsy Pathogenic; Likely pathogenic rs1555889130, rs1555889127, rs1555889162 RCV001249560
RCV001249555
RCV001249559
Epilepsy Pathogenic rs1555889130 RCV005625667
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Likely benign rs1984206797 RCV001264690
Rare genetic intellectual disability Uncertain significance rs759902465 RCV001257030
See cases Conflicting classifications of pathogenicity rs779379680 RCV002252358
Associations from Text MiningDisease 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