Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Kcnt2 | Rat | developmental and epileptic encephalopathy 57 | | ISO | KCNT2 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Kcnt2 | Rat | developmental and epileptic encephalopathy 57 | | ISO | KCNT2 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP. | Bhattacharjee A, etal., J Neurosci 2003 Dec 17;23(37):11681-91. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. | Gururaj S, etal., Cell Rep. 2017 Oct 24;21(4):926-933. doi: 10.1016/j.celrep.2017.09.088. |
| 4. | GOA pipeline | RGD automated data pipeline |
| 5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| PMID:15375169 | PMID:15717307 | PMID:18664322 | PMID:19403831 | PMID:25347289 | PMID:26100633 | PMID:26823461 |
| Kcnt2 (Rattus norvegicus - Norway rat) |
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| KCNT2 (Homo sapiens - human) |
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| Kcnt2 (Mus musculus - house mouse) |
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| Kcnt2 (Chinchilla lanigera - long-tailed chinchilla) |
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| KCNT2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KCNT2 (Canis lupus familiaris - dog) |
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| Kcnt2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KCNT2 (Sus scrofa - pig) |
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| KCNT2 (Chlorocebus sabaeus - green monkey) |
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| Kcnt2 (Heterocephalus glaber - naked mole-rat) |
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| Kcnt2 (Rattus rattus - black rat) |
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Variants in Kcnt2
3502 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| UniSTS:225072 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 14 | 12 | 66 | 163 | 77 | 76 | 45 | 36 | 45 | 6 | 275 | 135 | 11 | 138 | 73 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_198762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006249942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006249943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017598806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039090723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039090726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039090727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039090728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063272313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005492244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010056918 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC112858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AY359443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000017884 ⟹ ENSRNOP00000017884 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000083693 ⟹ ENSRNOP00000071443 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000113684 ⟹ ENSRNOP00000093596 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000137196 ⟹ ENSRNOP00000104709 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000173161 ⟹ ENSRNOP00000101177 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_198762 ⟹ NP_942057 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006249943 ⟹ XP_006250005 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017598802 ⟹ XP_017454291 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017598803 ⟹ XP_017454292 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017598804 ⟹ XP_017454293 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039090723 ⟹ XP_038946651 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039090726 ⟹ XP_038946654 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039090727 ⟹ XP_038946655 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039090728 ⟹ XP_038946656 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063272313 ⟹ XP_063128383 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_005492244 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XR_010056918 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_942057 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006250005 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017454291 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017454292 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017454293 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038946651 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038946654 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038946655 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038946656 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063128383 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAR06169 | (Get FASTA) | NCBI Sequence Viewer |
| EDM09614 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000017884 | ||
| ENSRNOP00000093596 | |||
| GenBank Protein | Q6UVM4 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_942057 ⟸ NM_198762 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| RefSeq Acc Id: | XP_006250005 ⟸ XM_006249943 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot), A0A8L2UJ52 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017454291 ⟸ XM_017598802 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| RefSeq Acc Id: | XP_017454292 ⟸ XM_017598803 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| RefSeq Acc Id: | XP_017454293 ⟸ XM_017598804 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000071443 ⟸ ENSRNOT00000083693 |
| Ensembl Acc Id: | ENSRNOP00000017884 ⟸ ENSRNOT00000017884 |
| RefSeq Acc Id: | XP_038946654 ⟸ XM_039090726 |
| - Peptide Label: | isoform X6 |
| RefSeq Acc Id: | XP_038946656 ⟸ XM_039090728 |
| - Peptide Label: | isoform X8 |
| RefSeq Acc Id: | XP_038946651 ⟸ XM_039090723 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot) |
| RefSeq Acc Id: | XP_038946655 ⟸ XM_039090727 |
| - Peptide Label: | isoform X7 |
| Ensembl Acc Id: | ENSRNOP00000093596 ⟸ ENSRNOT00000113684 |
| RefSeq Acc Id: | XP_063128383 ⟸ XM_063272313 |
| - Peptide Label: | isoform X9 |
| - UniProtKB: | Q6UVM4 (UniProtKB/Swiss-Prot), A0A8I6AJ80 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000101177 ⟸ ENSRNOT00000173161 |
| Ensembl Acc Id: | ENSRNOP00000104709 ⟸ ENSRNOT00000137196 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q6UVM4-F1-model_v2 | AlphaFold | Q6UVM4 | 1-1142 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:735074 | AgrOrtholog |
| BioCyc Gene | G2FUF-18062 | BioCyc |
| Ensembl Genes | ENSRNOG00000013312 | Ensembl, ENTREZGENE |
| Ensembl Transcript | ENSRNOT00000017884 | ENTREZGENE |
| ENSRNOT00000113684 | ENTREZGENE | |
| Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot |
| NAD(P)-binding Rossmann-like Domain | UniProtKB/Swiss-Prot | |
| InterPro | K_chnl_BK_asu | UniProtKB/Swiss-Prot |
| K_chnl_dom | UniProtKB/Swiss-Prot | |
| K_chnl_Slo-like | UniProtKB/Swiss-Prot | |
| NAD(P)-bd_dom_sf | UniProtKB/Swiss-Prot | |
| RCK_N | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:304827 | UniProtKB/Swiss-Prot |
| NCBI Gene | 304827 | ENTREZGENE |
| PANTHER | CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA CHAIN | UniProtKB/Swiss-Prot |
| POTASSIUM CHANNEL SUBFAMILY T MEMBER 2 | UniProtKB/Swiss-Prot | |
| Pfam | BK_channel_a | UniProtKB/Swiss-Prot |
| Ion_trans_2 | UniProtKB/Swiss-Prot | |
| Slo-like_RCK | UniProtKB/Swiss-Prot | |
| PhenoGen | Kcnt2 | PhenoGen |
| PROSITE | RCK_N | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000013312 | RatGTEx |
| Superfamily-SCOP | SSF51735 | UniProtKB/Swiss-Prot |
| Voltage-gated potassium channels | UniProtKB/Swiss-Prot | |
| UniProt | A0A0G2K0H1_RAT | UniProtKB/TrEMBL |
| A0A8I6AJ80 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8L2UJ52 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0ABK0LI29_RAT | UniProtKB/TrEMBL | |
| A0ABK0LIZ8_RAT | UniProtKB/TrEMBL | |
| A6ICN3_RAT | UniProtKB/TrEMBL | |
| KCNT2_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-11 | Kcnt2 | potassium sodium-activated channel subfamily T member 2 | Kcnt2 | potassium channel, sodium-activated subfamily T, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2015-01-26 | Kcnt2 | potassium channel, sodium-activated subfamily T, member 2 | Kcnt2 | potassium channel, subfamily T, member 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Kcnt2 | potassium channel, subfamily T, member 2 | Slick | sodium- and chloride-activated ATP-sensitive potassium channel | Symbol and Name updated | 1299863 | APPROVED |
| 2005-07-08 | Slick | sodium- and chloride-activated ATP-sensitive potassium channel | Symbol and Name status set to approved | 1299863 | APPROVED |
| Note Type | Note | Reference |
|---|---|---|
| gene_domains | C-terminal ATP binding site is required for ATP to reduce the channel's open probability | 1299633 |
| gene_expression | expressed in the central nervous system and the heart | 1299633 |