Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | KCNQ2 | contributors: mct - updated : 27-09-2011 |
HGNC name | potassium voltage-gated channel, KQT-like subfamily, member 2 |
HGNC id | 6296 |
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Corresponding disease |
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Location | 20q13.33 Physical location : 62.037.541 - 62.103.993 | ||||
Synonym name | |||||
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Synonym symbol(s) | BFNC, ENB1, HNSPC, KV7.2, KCNA11, KVEBN1, EBN |
DNA |
TYPE | functioning gene |
STRUCTURE | 66.45 kb 17 Exon(s) |
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10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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text | four alternatively spliced isoforms in brain (PMID: 9827540) |
EXPRESSION |
Type | restricted |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | fetal |
Text | brain |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | PhosphoP |
mono polymer | heteromer , polymer |
HOMOLOGY |
interspecies | homolog to murine Kcnq2 |
Homologene |
FAMILY | |
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CATEGORY | transport channel |
SUBCELLULAR LOCALIZATION
| plasma membrane |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling | neurotransmission |
synaptic transmission |
a component | |
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INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
repressed by | REST, which is known to suppress KCNQ2 expression ![]() |
Other | trafficking is regulated by calmodulin binding to the c-terminal A and B helices ![]() |
ASSOCIATED DISORDERS |
corresponding disease(s) | EBN1 , EIEE7 |
Other morbid association(s) |
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Susceptibility | to idiopathic epilepsy |
Variant & Polymorphism SNP | missense variant p.Pro574Ser detected in idiopathic epilepsy ![]() |
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |