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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 57 | | ISO | RGD:1351112 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 57 | | ISO | RGD:1351112 | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:14610273 | PMID:16141072 | PMID:16141073 | PMID:17344399 | PMID:17967808 | PMID:18799693 | PMID:21677750 |
PMID:21862448 | PMID:21873635 | PMID:26559620 | PMID:26587966 | PMID:26845140 | PMID:30796290 | PMID:32796851 |
Kcnt2 (Mus musculus - house mouse) |
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KCNT2 (Homo sapiens - human) |
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Kcnt2 (Rattus norvegicus - Norway rat) |
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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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RH127138 |
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D1Mit141 |
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UniSTS:224249 |
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The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
RefSeq Transcripts | NM_001081027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006529562 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006529565 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006529566 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006529567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006529572 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011247996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011247997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011247998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011247999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320512 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030253999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036164770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001784491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001784492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001784494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001784498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004942432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC120400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC156607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC156989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK054538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000119786 ⟹ ENSMUSP00000113535 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000120709 ⟹ ENSMUSP00000112887 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000120796 ⟹ ENSMUSP00000113333 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000145077 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000192840 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000193606 ⟹ ENSMUSP00000141947 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000239229 ⟹ ENSMUSP00000159210 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001081027 ⟹ NP_001074496 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006529562 ⟹ XP_006529625 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006529565 ⟹ XP_006529628 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006529566 ⟹ XP_006529629 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006529567 ⟹ XP_006529630 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006529572 ⟹ XP_006529635 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247996 ⟹ XP_011246298 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247997 ⟹ XP_011246299 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247998 ⟹ XP_011246300 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011247999 ⟹ XP_011246301 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320506 ⟹ XP_017175995 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320507 ⟹ XP_017175996 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320508 ⟹ XP_017175997 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320509 ⟹ XP_017175998 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320510 ⟹ XP_017175999 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320512 ⟹ XP_017176001 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030253999 ⟹ XP_030109859 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036164770 ⟹ XP_036020663 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784491 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784492 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784494 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001784498 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004942432 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001074496 | (Get FASTA) | NCBI Sequence Viewer |
XP_006529625 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006529628 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006529629 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006529630 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006529635 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011246298 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011246299 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011246300 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011246301 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017175995 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017175996 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017175997 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017175998 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017175999 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017176001 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030109859 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036020663 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAC35816 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001074496 ⟸ NM_001081027 |
- UniProtKB: | D3Z649 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006529625 ⟸ XM_006529562 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_006529635 ⟸ XM_006529572 |
- Peptide Label: | isoform X17 |
- Sequence: |
RefSeq Acc Id: | XP_006529630 ⟸ XM_006529567 |
- Peptide Label: | isoform X12 |
- Sequence: |
RefSeq Acc Id: | XP_006529628 ⟸ XM_006529565 |
- Peptide Label: | isoform X8 |
- Sequence: |
RefSeq Acc Id: | XP_006529629 ⟸ XM_006529566 |
- Peptide Label: | isoform X11 |
- UniProtKB: | D3YTU6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011246301 ⟸ XM_011247999 |
- Peptide Label: | isoform X14 |
- Sequence: |
RefSeq Acc Id: | XP_011246299 ⟸ XM_011247997 |
- Peptide Label: | isoform X10 |
- Sequence: |
RefSeq Acc Id: | XP_011246298 ⟸ XM_011247996 |
- Peptide Label: | isoform X7 |
- Sequence: |
RefSeq Acc Id: | XP_011246300 ⟸ XM_011247998 |
- Peptide Label: | isoform X13 |
- UniProtKB: | D3Z592 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017175999 ⟸ XM_017320510 |
- Peptide Label: | isoform X9 |
- Sequence: |
RefSeq Acc Id: | XP_017175995 ⟸ XM_017320506 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_017175997 ⟸ XM_017320508 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_017175996 ⟸ XM_017320507 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_017175998 ⟸ XM_017320509 |
- Peptide Label: | isoform X6 |
- Sequence: |
RefSeq Acc Id: | XP_017176001 ⟸ XM_017320512 |
- Peptide Label: | isoform X15 |
- Sequence: |
RefSeq Acc Id: | XP_030109859 ⟸ XM_030253999 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSMUSP00000113535 ⟸ ENSMUST00000119786 |
RefSeq Acc Id: | ENSMUSP00000159210 ⟸ ENSMUST00000239229 |
RefSeq Acc Id: | ENSMUSP00000113333 ⟸ ENSMUST00000120796 |
RefSeq Acc Id: | ENSMUSP00000112887 ⟸ ENSMUST00000120709 |
RefSeq Acc Id: | ENSMUSP00000141947 ⟸ ENSMUST00000193606 |
RefSeq Acc Id: | XP_036020663 ⟸ XM_036164770 |
- Peptide Label: | isoform X16 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3Z649-F1-model_v2 | AlphaFold | D3Z649 | 1-1135 | view protein structure |
RGD ID: | 6817969 | ||||||||
Promoter ID: | MM_KWN:2323 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | ES_Cell | ||||||||
Transcripts: | ENSMUST00000086355, ENSMUST00000119786, ENSMUST00000120709, ENSMUST00000120796, OTTMUST00000074033, OTTMUST00000074240 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:3036273 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000052726 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSMUSP00000112887 | ENTREZGENE |
ENSMUSP00000112887.2 | UniProtKB/TrEMBL | |
ENSMUSP00000113333 | ENTREZGENE | |
ENSMUSP00000113333.2 | UniProtKB/TrEMBL | |
ENSMUSP00000113535 | ENTREZGENE | |
ENSMUSP00000113535.2 | UniProtKB/TrEMBL | |
ENSMUSP00000141947.2 | UniProtKB/TrEMBL | |
ENSMUSP00000159210.2 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSMUST00000119786 | ENTREZGENE |
ENSMUST00000119786.8 | UniProtKB/TrEMBL | |
ENSMUST00000120709 | ENTREZGENE | |
ENSMUST00000120709.8 | UniProtKB/TrEMBL | |
ENSMUST00000120796 | ENTREZGENE | |
ENSMUST00000120796.8 | UniProtKB/TrEMBL | |
ENSMUST00000193606.2 | UniProtKB/TrEMBL | |
ENSMUST00000239229.2 | UniProtKB/TrEMBL | |
InterPro | Ion_trans_2 | UniProtKB/TrEMBL |
K_chnl_Ca-activ_BK_asu | UniProtKB/TrEMBL | |
NAD(P)-bd_dom_sf | UniProtKB/TrEMBL | |
KEGG Report | mmu:240776 | UniProtKB/TrEMBL |
MGD | MGI:3036273 | ENTREZGENE |
NCBI Gene | 240776 | ENTREZGENE |
Pfam | BK_channel_a | UniProtKB/TrEMBL |
Ion_trans_2 | UniProtKB/TrEMBL | |
PhenoGen | Kcnt2 | PhenoGen |
Superfamily-SCOP | SSF51735 | UniProtKB/TrEMBL |
UniProt | A0A0A6YXD8_MOUSE | UniProtKB/TrEMBL |
A0A668KLS9_MOUSE | UniProtKB/TrEMBL | |
D3YTU6 | ENTREZGENE, UniProtKB/TrEMBL | |
D3Z592 | ENTREZGENE, UniProtKB/TrEMBL | |
D3Z649 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8BHX7_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | F6VNZ6 | UniProtKB/TrEMBL |