ENSG00000158445
Homo sapiens potassium channel KCNB1 regulation ion membrane transport activity secretion protein domain voltage voltage-gated btb dependent kv exocytosis transmembrane insulin plasma cell poz action potential cellular response glucose neuron projection binding tetramerisation-type
Features Gene ID: ENSG00000158445 Biological name :KCNB1 Synonyms : KCNB1 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 20 Strand: -1 Band: q13.13 Gene start: 49293394 Gene end: 49484297 Corresponding Affymetrix probe sets: 211006_s_at (Human Genome U133 Plus 2.0 Array) 217637_at (Human Genome U133 Plus 2.0 Array) 231053_at (Human Genome U133 Plus 2.0 Array) 240869_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000003608063745
See in Manteia .
600397 XM_006723784 XM_011528799 NM_004975 NP_004966 Q14721 A0A1B0GU02 A0A1B0GTM8 ENSG00000158445 Related genetic diseases (OMIM): 616056 - Epileptic encephalopathy, early infantile, 26, 616056
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl ) KCNB2 / Q92953 / potassium voltage-gated channel subfamily B member 2 ENSG00000182674 65 KCNV1 / Q6PIU1 / potassium voltage-gated channel modifier subfamily V member 1 ENSG00000164794 25 KCNS3 / Q9BQ31 / potassium voltage-gated channel modifier subfamily S member 3 ENSG00000170745 24 KCNG1 / Q9UIX4 / potassium voltage-gated channel modifier subfamily G member 1 ENSG00000026559 22 KCNS2 / Q9ULS6 / potassium voltage-gated channel modifier subfamily S member 2 ENSG00000156486 22 KCNF1 / Q9H3M0 / potassium voltage-gated channel modifier subfamily F member 1 ENSG00000162975 22 KCNS1 / Q96KK3 / potassium voltage-gated channel modifier subfamily S member 1 ENSG00000124134 21 KCNV2 / Q8TDN2 / potassium voltage-gated channel modifier subfamily V member 2 ENSG00000168263 21 KCNG4 / Q8TDN1 / potassium voltage-gated channel modifier subfamily G member 4 ENSG00000168418 20 KCNG3 / Q8TAE7 / potassium voltage-gated channel modifier subfamily G member 3 ENSG00000171126 19 KCNG2 / Q9UJ96 / potassium voltage-gated channel modifier subfamily G member 2 ENSG00000178342 19
Protein motifs (from Interpro )Gene Ontology (GO ) regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation of biological quality establishment of localization membrane docking cellular localization cell communication cellular response to stimulus response to external stimulus macromolecule localization cellular component organization cellular component biogenesis response to chemical cell death regulation regulation of biological quality establishmeestablishment of localization membrane domembrane docking cellular locellular localization cell communcell communication cellular recellular response to stimulus response toresponse to external stimulus macromolecumacromolecule localization cellular cocellular component organization cellular cocellular component biogenesis response toresponse to chemical cell deathcell death transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activity protein binding transmembrane transporter activitytransmembrane transporter activity protein bindingprotein binding cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cellcell membranemembrane protein-containing complexprotein-containing complex cell junctioncell junction synapsesynapse
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormality Abnormality of musculature Age of onset Neurological abnormalityNeurological abnormality Abnormality of musculatureAbnormality of musculature Age of onsetAge of onset HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
Show HP:0003593 Early onset
Show HP:0200134 Epileptic encephalopathy
Show
Interacting proteins (from Reactome )No match
0 s.
