| Gene Information | |
|---|---|
| Gene Name | KCNQ2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 872 |
| Protein Names | Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Neuroblastoma-specific potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2) |
| Target Name | voltage-gated potassium channel kv7.2 |
| Target Type | Literature-reported target |
| Gene Age | 544 ( ENSG00000075043 ) 3 ( ENSG00000281151 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O43526 |
| Gene Card | KCNQ2 |
| Uniprot ID | O43526 |
| Pfam | PF00520; PF03520; PF11956 |
| In ASD | yes |
| Allosteric Prediction | yes (1.000231825) |
| Ortholog in Animals | Alpaca_ KCNQ2 ( ortholog_one2one ) Dog_ KCNQ2 ( ortholog_one2one ) GuineaPig_ KCNQ2 ( ortholog_one2one ) Mouse_ Kcnq2 ( ortholog_one2one ) Pig_ KCNQ2 ( ortholog_one2one ) Rat_ Eef1a2 ( ortholog_one2one ) |
| Ohnologs | KCNQ4, KCNQ3, KCNQ5 |
| Paralogs | KCNS1, KCND1, KCNA7, KCNB2, KCNG3, KCNQ1, KCNQ3, KCNC4, KCNV1, KCNA1, KCNQ4, KCNA10, KCNC3, KCNV2, KCND3, KCNB1, KCNA6, KCNA2, KCNA5, KCNG1, KCND2, KCNC1, KCNC2, KCNA4, KCNA3, KCNQ5, KCNF1, KCNG2, KCNG4, KCNS3, KCNS2 |
| Tissue | brain, testis, cerebral.cortex |
| Tissue Specificity | In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal cord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undifferentiated neuroblastoma cells and brain tumors. {ECO:0000269|PubMed:10781098}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 5J03 (X-ray 2.00A ) 6FEG (NMR - ) 6FEH (NMR - ) 7CR0 (EM 3.10A ) 7CR1 (EM 3.40A ) 7CR2 (EM 3.20A ) 7CR3 (EM 3.60A ) 7CR4 (EM 3.90A ) 7CR7 (EM 3.70A ) |
| DBSNP | rs1057516076 rs1057516078 rs1057516081 rs1057516080 rs118192199 rs796052623 rs118192200 rs74315391 rs118192201 rs796052626 rs397514581 rs118192203 rs28939684 rs1057516089 rs118192204 rs1057516091 rs118192205 rs74315392 rs1057519536 rs1057516094 rs1057516095 rs28939683 rs1057519535 rs118192211 rs1057516099 rs74315390 rs118192216 rs118192218 rs1057516110 rs796052650 rs267607198 rs796052665 rs1057516123 rs118192235 rs118192237 rs118192240 rs748400155 rs1801475 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:10788442, ECO:0000269|PubMed:9836639}; Multi-pass membrane protein {ECO:0000255}. |
| Mouse PG classification | NA |
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