Seroatlas · Human Serome Atlas

KCNB1

Potassium voltage-gated channel subfamily B member 1

Also known as: KCNB1_HUMAN, Kv2.1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q14721
Gene: KCNB1
Ensembl: ENSG00000158445
Chromosome: 20
Canonical length: 858 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Quaternary structure: Homotetramer

OverviewNCBI 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, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

858 residues, UniProt reviewed canonical sequence.

>Q14721|KCNB1
     1  MPAGMTKHGS RSTSSLPPEP MEIVRSKACS RRVRLNVGGL AHEVLWRTLD RLPRTRLGKL
    61  RDCNTHDSLL EVCDDYSLDD NEYFFDRHPG AFTSILNFYR TGRLHMMEEM CALSFSQELD
   121  YWGIDEIYLE SCCQARYHQK KEQMNEELKR EAETLREREG EEFDNTCCAE KRKKLWDLLE
   181  KPNSSVAAKI LAIISIMFIV LSTIALSLNT LPELQSLDEF GQSTDNPQLA HVEAVCIAWF
   241  TMEYLLRFLS SPKKWKFFKG PLNAIDLLAI LPYYVTIFLT ESNKSVLQFQ NVRRVVQIFR
   301  IMRILRILKL ARHSTGLQSL GFTLRRSYNE LGLLILFLAM GIMIFSSLVF FAEKDEDDTK
   361  FKSIPASFWW ATITMTTVGY GDIYPKTLLG KIVGGLCCIA GVLVIALPIP IIVNNFSEFY
   421  KEQKRQEKAI KRREALERAK RNGSIVSMNM KDAFARSIEM MDIVVEKNGE NMGKKDKVQD
   481  NHLSPNKWKW TKRTLSETSS SKSFETKEQG SPEKARSSSS PQHLNVQQLE DMYNKMAKTQ
   541  SQPILNTKES AAQSKPKEEL EMESIPSPVA PLPTRTEGVI DMRSMSSIDS FISCATDFPE
   601  ATRFSHSPLT SLPSKTGGST APEVGWRGAL GASGGRFVEA NPSPDASQHS SFFIESPKSS
   661  MKTNNPLKLR ALKVNFMEGD PSPLLPVLGM YHDPLRNRGS AAAAVAGLEC ATLLDKAVLS
   721  PESSIYTTAS AKTPPRSPEK HTAIAFNFEA GVHQYIDADT DDEGQLLYSV DSSPPKSLPG
   781  STSPKFSTGT RSEKNHFESS PLPTSPKFLR QNCIYSTEAL TGKGPSGQEK CKLENHISPD
   841  VRVLPGGGAH GSTRDQSI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 107 nTPM

Expression across tissuesHPA

Tissue

retina: 107 nTPM
cerebral cortex: 17 nTPM
adipose tissue: 10 nTPM
basal ganglia: 7.4 nTPM
skeletal muscle: 6.8 nTPM
endometrium: 6.6 nTPM

Single-cell type

rod photoreceptor cells: 1,205 nCPM
cone photoreceptor cells: 578 nCPM
retinal bipolar cells: 209 nCPM
brain inhibitory neurons: 138 nCPM
brain excitatory neurons: 133 nCPM
thyrotrophs: 130 nCPM

Immune cell

eosinophil: 0.1 nTPM
neutrophil: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebral cortex: 100 nTPM
white matter: 79 nTPM
basal ganglia: 67 nTPM
hippocampal formation: 65 nTPM
amygdala: 50 nTPM
hypothalamus: 39 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNB1.

Disease | AllUniProt

Conditions KCNB1 is implicated in, by any mechanism.

Developmental and epileptic encephalopathy 26 (DEE26) MIM:616056

Disease | GeneticClinVar

116 pathogenic / likely-pathogenic of 872 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Developmental and epileptic encephalopathy, 26
Epileptic encephalopathy
Intellectual disability
Inborn genetic diseases
Developmental and epileptic encephalopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.13
gnomAD pLI: 1
gnomAD missense Z: 4.27
DepMap mean gene effect: 0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCNB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCNB1 as an antibody target. Whether an autoantibody or antibody against KCNB1 could matter depends on whether native KCNB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNB1 is annotated at the cell surface, where native KCNB1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KCNB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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