Details for: KCNB1

Gene ID: 3745

Symbol: KCNB1

Ensembl ID: ENSG00000158445

Description: potassium voltage-gated channel subfamily B member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 3.75
    Marker Score: 5174
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 2.83
    Marker Score: 11811
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.72
    Marker Score: 810
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.68
    Marker Score: 7635
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.56
    Marker Score: 50926
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.45
    Marker Score: 18792.5
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.44
    Marker Score: 92758
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.42
    Marker Score: 36144
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.29
    Marker Score: 9494
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.08
    Marker Score: 8035
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.05
    Marker Score: 19294.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.05
    Marker Score: 75496
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.04
    Marker Score: 125737
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.93
    Marker Score: 7866
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.93
    Marker Score: 65089
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.89
    Marker Score: 17983
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.86
    Marker Score: 15934
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.84
    Marker Score: 3091
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.76
    Marker Score: 918
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.73
    Marker Score: 3806
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.73
    Marker Score: 4930
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.73
    Marker Score: 17813
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2542
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.61
    Marker Score: 1848
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1165
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169071
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.37
    Marker Score: 502
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 865
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.18
    Marker Score: 1659
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.16
    Marker Score: 650
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.11
    Marker Score: 2250
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71811
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48036
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 459
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.97
    Marker Score: 656.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 15096
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.96
    Marker Score: 253
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.96
    Marker Score: 720
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5330
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.93
    Marker Score: 1931
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.93
    Marker Score: 444
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 371
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.92
    Marker Score: 381
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5284
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.85
    Marker Score: 3567
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.84
    Marker Score: 387
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.83
    Marker Score: 500
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.79
    Marker Score: 247
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.78
    Marker Score: 258
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 705
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 564
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.73
    Marker Score: 386
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.73
    Marker Score: 899
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.72
    Marker Score: 229
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 459
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.72
    Marker Score: 15307.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.71
    Marker Score: 1453
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.7
    Marker Score: 172
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.69
    Marker Score: 459
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.69
    Marker Score: 3209
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.69
    Marker Score: 1621
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.62
    Marker Score: 158
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.6
    Marker Score: 395
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.58
    Marker Score: 187
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.57
    Marker Score: 548
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 0.57
    Marker Score: 216
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 230
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.55
    Marker Score: 3283
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.53
    Marker Score: 403
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.52
    Marker Score: 135
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.5
    Marker Score: 2688
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.5
    Marker Score: 158
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.48
    Marker Score: 318
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.48
    Marker Score: 1128
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.48
    Marker Score: 200
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.47
    Marker Score: 408
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.47
    Marker Score: 207
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.47
    Marker Score: 179
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.45
    Marker Score: 222
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.43
    Marker Score: 114
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.4
    Marker Score: 613
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.39
    Marker Score: 233
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.39
    Marker Score: 1107
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 369
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.36
    Marker Score: 3685
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.36
    Marker Score: 400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.35
    Marker Score: 882
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.35
    Marker Score: 95
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.34
    Marker Score: 129
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.34
    Marker Score: 1164.5

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Other Information

**Key characteristics:** * KCNB1 is a potassium channel protein that belongs to the KCNB family of potassium channels. * It is expressed in double-negative thymocytes, GABAergic neurons, eye photoreceptor cells, retinal rod cells, sst GABAergic cortical interneurons, and other cell types. * It is a key regulator of insulin secretion, with mutations affecting glucose homeostasis. * It also plays a role in the glutamate receptor signaling pathway and energy metabolism. **Pathways and functions:** * **Action potential:** KCNB1 is expressed in neurons and plays a role in the generation and propagation of action potentials. * **Cellular response to nutrient levels:** KCNB1 is also involved in the cellular response to nutrient levels, such as when blood glucose levels rise. * **Delayed rectifier potassium channel activity:** KCNB1 is a component of the delayed rectifier potassium channel, which is responsible for regulating the flow of potassium ions out of the cell. * **Glucagon-like peptide-1 (glp1) regulates insulin secretion:** KCNB1 is a target for the action of glucagon-like peptide-1 (glp1), a hormone that is released by the pancreas in response to low blood sugar. * **Glutamate receptor signaling pathway:** KCNB1 is also involved in the glutamate receptor signaling pathway, which is responsible for transmitting signals from the receptors to the cytoplasm. * **Integration of energy metabolism:** KCNB1 is involved in the integration of energy metabolism, which is the process by which the body combines glucose, protein, and fat to produce energy. **Clinical significance:** Mutations in the KCNB1 gene have been linked to a number of human diseases, including type 2 diabetes, obesity, and metabolic syndrome. These diseases are characterized by high blood sugar levels and insulin resistance. KCNB1 mutations can disrupt the normal function of these channels, leading to abnormal insulin secretion and the development of these diseases.

Genular Protein ID: 3476246891

Symbol: KCNB1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q14721 Q14193

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EMBL 4 Ensembl 2 ExpressionAtlas 1 GO 43 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PRINTS 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 3 SAM 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8081723

Title: Cloning and characterization of a human delayed rectifier potassium channel gene.

PubMed ID: 8081723

PubMed ID: 1283219

Title: Heterologous expression of the human potassium channel Kv2.1 in clonal mammalian cells by direct cytoplasmic microinjection of cRNA.

PubMed ID: 1283219

DOI: 10.1007/bf00370422

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 10484328

Title: Electrically silent potassium channel subunits from human lens epithelium.

PubMed ID: 10484328

DOI: 10.1152/ajpcell.1999.277.3.c412

PubMed ID: 10414301

Title: Molecular diversity of K+ channels.

PubMed ID: 10414301

DOI: 10.1111/j.1749-6632.1999.tb11293.x

PubMed ID: 11852086

Title: Molecular cloning and characterization of Kv6.3, a novel modulatory subunit for voltage-gated K(+) channel Kv2.1.

PubMed ID: 11852086

DOI: 10.1016/s0014-5793(02)02267-6

PubMed ID: 12403834

Title: Synaptosome-associated protein of 25 kilodaltons modulates Kv2.1 voltage-dependent K(+) channels in neuroendocrine islet beta-cells through an interaction with the channel N terminus.

PubMed ID: 12403834

DOI: 10.1210/me.2002-0058

PubMed ID: 12060745

Title: Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.

PubMed ID: 12060745

DOI: 10.1073/pnas.122617999

PubMed ID: 14565763

Title: Structural basis of binding and inhibition of novel tarantula toxins in mammalian voltage-dependent potassium channels.

PubMed ID: 14565763

DOI: 10.1021/tx0341097

PubMed ID: 12560340

Title: The Roles of N- and C-terminal determinants in the activation of the Kv2.1 potassium channel.

PubMed ID: 12560340

DOI: 10.1074/jbc.m212973200

PubMed ID: 14988243

Title: Expression of voltage-gated potassium channels in human and rhesus pancreatic islets.

PubMed ID: 14988243

DOI: 10.2337/diabetes.53.3.597

PubMed ID: 15858231

Title: Molecular determinants of voltage-gated potassium currents in vascular smooth muscle.

PubMed ID: 15858231

DOI: 10.1385/cbb:42:2:167

PubMed ID: 19357235

Title: Kv2.1 and silent Kv subunits underlie the delayed rectifier K+ current in cultured small mouse DRG neurons.

PubMed ID: 19357235

DOI: 10.1152/ajpcell.00088.2009

PubMed ID: 19074135

Title: Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4.

PubMed ID: 19074135

DOI: 10.1074/jbc.m808786200

PubMed ID: 19717558

Title: Conserved negative charges in the N-terminal tetramerization domain mediate efficient assembly of Kv2.1 and Kv2.1/Kv6.4 channels.

PubMed ID: 19717558

DOI: 10.1074/jbc.m109.039479

PubMed ID: 19223394

Title: SUMOylation regulates Kv2.1 and modulates pancreatic beta-cell excitability.

PubMed ID: 19223394

DOI: 10.1242/jcs.036632

PubMed ID: 23161216

Title: The role of voltage-gated potassium channels Kv2.1 and Kv2.2 in the regulation of insulin and somatostatin release from pancreatic islets.

PubMed ID: 23161216

DOI: 10.1124/jpet.112.199083

PubMed ID: 24477962

Title: A unique ion channel clustering domain on the axon initial segment of mammalian neurons.

PubMed ID: 24477962

DOI: 10.1002/cne.23551

PubMed ID: 24901643

Title: The subfamily-specific interaction between Kv2.1 and Kv6.4 subunits is determined by interactions between the N- and C-termini.

PubMed ID: 24901643

DOI: 10.1371/journal.pone.0098960

PubMed ID: 34535971

Title: Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.

PubMed ID: 34535971

DOI: 10.1002/mgg3.1795

PubMed ID: 33124732

Title: FFAT motif phosphorylation controls formation and lipid transfer function of inter-organelle contacts.

PubMed ID: 33124732

DOI: 10.15252/embj.2019104369

PubMed ID: 25164438

Title: De novo KCNB1 mutations in epileptic encephalopathy.

PubMed ID: 25164438

DOI: 10.1002/ana.24263

PubMed ID: 26503721

Title: A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

PubMed ID: 26503721

DOI: 10.1085/jgp.201511444

PubMed ID: 26477325

Title: De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

PubMed ID: 26477325

DOI: 10.1038/srep15199

Sequence Information:

  • Length: 858
  • Mass: 95878
  • Checksum: C4B426174ED0DEE4
  • Sequence:
    • MPAGMTKHGS RSTSSLPPEP MEIVRSKACS RRVRLNVGGL AHEVLWRTLD RLPRTRLGKL 
RDCNTHDSLL EVCDDYSLDD NEYFFDRHPG AFTSILNFYR TGRLHMMEEM CALSFSQELD 
YWGIDEIYLE SCCQARYHQK KEQMNEELKR EAETLREREG EEFDNTCCAE KRKKLWDLLE 
KPNSSVAAKI LAIISIMFIV LSTIALSLNT LPELQSLDEF GQSTDNPQLA HVEAVCIAWF 
TMEYLLRFLS SPKKWKFFKG PLNAIDLLAI LPYYVTIFLT ESNKSVLQFQ NVRRVVQIFR 
IMRILRILKL ARHSTGLQSL GFTLRRSYNE LGLLILFLAM GIMIFSSLVF FAEKDEDDTK 
FKSIPASFWW ATITMTTVGY GDIYPKTLLG KIVGGLCCIA GVLVIALPIP IIVNNFSEFY 
KEQKRQEKAI KRREALERAK RNGSIVSMNM KDAFARSIEM MDIVVEKNGE NMGKKDKVQD 
NHLSPNKWKW TKRTLSETSS SKSFETKEQG SPEKARSSSS PQHLNVQQLE DMYNKMAKTQ 
SQPILNTKES AAQSKPKEEL EMESIPSPVA PLPTRTEGVI DMRSMSSIDS FISCATDFPE 
ATRFSHSPLT SLPSKTGGST APEVGWRGAL GASGGRFVEA NPSPDASQHS SFFIESPKSS 
MKTNNPLKLR ALKVNFMEGD PSPLLPVLGM YHDPLRNRGS AAAAVAGLEC ATLLDKAVLS 
PESSIYTTAS AKTPPRSPEK HTAIAFNFEA GVHQYIDADT DDEGQLLYSV DSSPPKSLPG 
STSPKFSTGT RSEKNHFESS PLPTSPKFLR QNCIYSTEAL TGKGPSGQEK CKLENHISPD 
VRVLPGGGAH GSTRDQSI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.