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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Variants in Kcnt2
3470 total Variants |
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. |
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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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 77 | 76 | 45 | 23 | 45 | 6 | 201 | 95 | 93 | 44 | 60 | 31 |
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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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 | ENSRNOP00000017884.6 | ||
ENSRNOP00000071443.2 | |||
ENSRNOP00000093596.1 | |||
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) |
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, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000017884.7 | UniProtKB/TrEMBL |
ENSRNOT00000083693.2 | UniProtKB/TrEMBL | |
ENSRNOT00000113684.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.70 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NAD(P)-binding Rossmann-like Domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | K_chnl_BK_asu | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
K_chnl_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
K_chnl_Slo-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NAD(P)-bd_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Slo-like_RCK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:304827 | UniProtKB/Swiss-Prot |
NCBI Gene | 304827 | ENTREZGENE |
PANTHER | CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA CHAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
POTASSIUM CHANNEL SUBFAMILY T MEMBER 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | BK_channel_a | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ion_trans_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Slo-like_RCK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Kcnt2 | PhenoGen |
PROSITE | RCK_N | UniProtKB/Swiss-Prot |
RatGTEx | ENSRNOG00000013312 | RatGTEx |
Superfamily-SCOP | SSF51735 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Voltage-gated potassium channels | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0G2K0H1_RAT | UniProtKB/TrEMBL |
A0A8I6AJ80 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8L2UJ52 | ENTREZGENE, UniProtKB/TrEMBL | |
A6ICN3_RAT | UniProtKB/TrEMBL | |
KCNT2_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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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 |
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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 |