Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | myoclonic dystonia | | ISO | KCTD17 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | myoclonic dystonia | | ISO | KCTD17 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:21677750 |
PMID:21873635 | PMID:28859855 | PMID:28923932 | PMID:36402191 | PMID:36868076 | PMID:38355793 |
Kctd17 (Mus musculus - house mouse) |
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KCTD17 (Homo sapiens - human) |
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Kctd17 (Rattus norvegicus - Norway rat) |
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Kctd17 (Chinchilla lanigera - long-tailed chinchilla) |
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KCTD17 (Pan paniscus - bonobo/pygmy chimpanzee) |
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KCTD17 (Canis lupus familiaris - dog) |
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Kctd17 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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KCTD17 (Sus scrofa - pig) |
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KCTD17 (Chlorocebus sabaeus - green monkey) |
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Kctd17 (Heterocephalus glaber - naked mole-rat) |
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Variants in Kctd17
451 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 |
AW742389 |
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RH124537 |
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RH125066 |
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RefSeq Transcripts | NM_001289671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001289672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001289673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_110357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006521460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006521461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030248792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036159611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001781568 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001781569 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004938873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004938874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK013500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK179755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL590144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC145799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000089414 ⟹ ENSMUSP00000086835 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000159771 ⟹ ENSMUSP00000125574 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000160916 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000161016 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000162321 ⟹ ENSMUSP00000125680 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000162517 ⟹ ENSMUSP00000124290 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000162605 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000162808 ⟹ ENSMUSP00000125421 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000166142 ⟹ ENSMUSP00000133210 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000229290 ⟹ ENSMUSP00000155643 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000229622 ⟹ ENSMUSP00000155227 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001289671 ⟹ NP_001276600 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001289672 ⟹ NP_001276601 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001289673 ⟹ NP_001276602 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NR_110357 | ||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006521460 ⟹ XP_006521523 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006521461 ⟹ XP_006521524 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030248792 ⟹ XP_030104652 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036159611 ⟹ XP_036015504 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001781568 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_001781569 | ||||||||||||
Type: | NON-CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004938873 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004938874 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001276600 | (Get FASTA) | NCBI Sequence Viewer |
NP_001276601 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001276602 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006521523 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006521524 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030104652 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036015504 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI45800 | (Get FASTA) | NCBI Sequence Viewer |
EDL29676 | (Get FASTA) | NCBI Sequence Viewer | |
EDL29678 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000086835.6 | ||
ENSMUSP00000124290 | |||
ENSMUSP00000124290.3 | |||
ENSMUSP00000125421.2 | |||
ENSMUSP00000125574 | |||
ENSMUSP00000125574.2 | |||
ENSMUSP00000125680.2 | |||
ENSMUSP00000133210 | |||
ENSMUSP00000133210.4 | |||
ENSMUSP00000155227.2 | |||
ENSMUSP00000155643.2 |
RefSeq Acc Id: | XP_006521523 ⟸ XM_006521460 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006521524 ⟸ XM_006521461 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | NP_001276600 ⟸ NM_001289671 |
- Peptide Label: | isoform 1 |
- UniProtKB: | E0CYD2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001276601 ⟸ NM_001289672 |
- Peptide Label: | isoform 2 |
- UniProtKB: | F6SYN4 (UniProtKB/TrEMBL), A6H697 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001276602 ⟸ NM_001289673 |
- Peptide Label: | isoform 3 |
- UniProtKB: | E0CZ97 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_030104652 ⟸ XM_030248792 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSMUSP00000125574 ⟸ ENSMUST00000159771 |
RefSeq Acc Id: | ENSMUSP00000133210 ⟸ ENSMUST00000166142 |
RefSeq Acc Id: | ENSMUSP00000086835 ⟸ ENSMUST00000089414 |
RefSeq Acc Id: | ENSMUSP00000125421 ⟸ ENSMUST00000162808 |
RefSeq Acc Id: | ENSMUSP00000125680 ⟸ ENSMUST00000162321 |
RefSeq Acc Id: | ENSMUSP00000124290 ⟸ ENSMUST00000162517 |
RefSeq Acc Id: | ENSMUSP00000155227 ⟸ ENSMUST00000229622 |
RefSeq Acc Id: | ENSMUSP00000155643 ⟸ ENSMUST00000229290 |
RefSeq Acc Id: | XP_036015504 ⟸ XM_036159611 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-E0CYQ0-F1-model_v2 | AlphaFold | E0CYQ0 | 1-296 | view protein structure |
RGD ID: | 6826122 | ||||||||
Promoter ID: | MM_KWN:18983 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain, Kidney, Lung, MEF_B4 | ||||||||
Transcripts: | NM_001081367, UC007WPH.1 | ||||||||
Position: |
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RGD ID: | 6847204 | ||||||||
Promoter ID: | MM_ACW:18599 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day1, 3T3L1_Day4, MEF_B4, MEF_B6 | ||||||||
Transcripts: | KCTD17.GSEP07, KCTD17.HSEP07 | ||||||||
Position: |
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RGD ID: | 8684264 | ||||||||
Promoter ID: | EPDNEW_M20162 | ||||||||
Type: | initiation region | ||||||||
Name: | Kctd17_1 | ||||||||
Description: | Mus musculus potassium channel tetramerisation domain containing17 , transcript variant 3, mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1920094 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000033287 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000089414.12 | UniProtKB/TrEMBL |
ENSMUST00000159771 | ENTREZGENE | |
ENSMUST00000159771.8 | UniProtKB/TrEMBL | |
ENSMUST00000162321.8 | UniProtKB/TrEMBL | |
ENSMUST00000162517 | ENTREZGENE | |
ENSMUST00000162517.9 | UniProtKB/TrEMBL | |
ENSMUST00000162808.2 | UniProtKB/TrEMBL | |
ENSMUST00000166142 | ENTREZGENE | |
ENSMUST00000166142.11 | UniProtKB/TrEMBL | |
ENSMUST00000229290.2 | UniProtKB/TrEMBL | |
ENSMUST00000229622.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.70.2000 | UniProtKB/TrEMBL |
6.10.140.750 | UniProtKB/TrEMBL | |
InterPro | BTB/POZ-like | UniProtKB/TrEMBL |
BTB/POZ_fold | UniProtKB/TrEMBL | |
T1-type_BTB | UniProtKB/TrEMBL | |
MGD | MGI:1920094 | ENTREZGENE |
NCBI Gene | 72844 | ENTREZGENE |
PANTHER | BTB/POZ DOMAIN-CONTAINING PROTEIN KCTD17 | UniProtKB/TrEMBL |
POTASSIUM CHANNEL TETRAMERISATION DOMAIN CONTAINING PROTEIN | UniProtKB/TrEMBL | |
Pfam | K_tetra | UniProtKB/TrEMBL |
PhenoGen | Kctd17 | PhenoGen |
SMART | BTB | UniProtKB/TrEMBL |
Superfamily-SCOP | BTB/POZ_fold | UniProtKB/TrEMBL |
UniProt | A0A2R8VHM0_MOUSE | UniProtKB/TrEMBL |
A0A2R8VKL1_MOUSE | UniProtKB/TrEMBL | |
A6H697 | ENTREZGENE, UniProtKB/TrEMBL | |
E0CYD2 | ENTREZGENE, UniProtKB/TrEMBL | |
E0CYQ0_MOUSE | UniProtKB/TrEMBL | |
E0CZ97 | ENTREZGENE, UniProtKB/TrEMBL | |
F6SYN4 | ENTREZGENE | |
F7B6A4_MOUSE | UniProtKB/TrEMBL | |
F7C1U0_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | F6SYN4 | UniProtKB/TrEMBL |