Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Kctd3 | Mouse | autistic disorder | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25558065 and PMID:25741868 | Kctd3 | Mouse | cerebellar hypoplasia | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25558065 and PMID:25741868 | Kctd3 | Mouse | gastrointestinal stromal tumor | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | Kctd3 | Mouse | genetic disease | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Kctd3 | Mouse | Loeys-Dietz syndrome 4 | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 | ClinVar | PMID:22772368 and PMID:28544325 | Kctd3 | Mouse | parathyroid carcinoma | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | Kctd3 | Mouse | Usher syndrome type 2A | | ISO | KCTD3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Usher syndrome type 2A | ClinVar | PMID:21681106 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Watched Genes
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Gene Annotator (Annotation Comparison) |
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GOLF (Gene-Ortholog Location Finder) |
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
Click to see Annotation Detail View
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Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 2. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 3. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12520002 | PMID:15489334 | PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:17967808 |
| PMID:18799693 | PMID:21677750 | PMID:23382386 | PMID:32581705 | PMID:38355793 |
Genomics
Comparative Map Data
| Kctd3 (Mus musculus - house mouse) |
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| KCTD3 (Homo sapiens - human) |
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| Kctd3 (Rattus norvegicus - Norway rat) |
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| Kctd3 (Chinchilla lanigera - long-tailed chinchilla) |
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| KCTD3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KCTD3 (Canis lupus familiaris - dog) |
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| Kctd3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KCTD3 (Sus scrofa - pig) |
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| KCTD3 (Chlorocebus sabaeus - green monkey) |
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| Kctd3 (Heterocephalus glaber - naked mole-rat) |
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miRNA Target Status
Predicted Target Of
| 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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QTLs in Region (GRCm39)
| The following QTLs overlap with this region. | | Full Report | | CSV | | TAB | | Printer | | Gviewer |
Markers in Region
| D9Mit34.1 |
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| D11Bhm20 |
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Expression
RNA-SEQ Expression
Sequence
Nucleotide Sequences
| RefSeq Transcripts | NM_001359576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001359577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001359578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_172650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_153196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017320175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017320182 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_030253563 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_036164219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_036164222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001784131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001784133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001784135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_003954946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_373771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC129312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK033491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK034380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK049362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK087407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK087865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK139700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK187258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK206124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK213368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK215148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK215667 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC045196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC061458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC079581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH466555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSMUST00000085678 ⟹ ENSMUSP00000082821 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000192200 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000192458 ⟹ ENSMUSP00000156175 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000193143 ⟹ ENSMUSP00000141861 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000193273 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000193590 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000195488 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000195658 ⟹ ENSMUSP00000141863 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000195745 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSMUST00000195787 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001359576 ⟹ NP_001346505 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_001359577 ⟹ NP_001346506 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_001359578 ⟹ NP_001346507 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NM_172650 ⟹ NP_766238 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | NR_153196 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017320175 ⟹ XP_017175664 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017320182 ⟹ XP_017175671 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_030253563 ⟹ XP_030109423 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_036164219 ⟹ XP_036020112 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_036164222 ⟹ XP_036020115 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_001784131 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_001784133 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_001784135 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_003954946 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XR_373771 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| Sequence: |
Protein Sequences
| Protein RefSeqs | NP_001346505 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001346506 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001346507 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_766238 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017175664 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017175671 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_030109423 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_036020112 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_036020115 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH45196 | (Get FASTA) | NCBI Sequence Viewer |
| AAH61458 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH79581 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC33709 | (Get FASTA) | NCBI Sequence Viewer | |
| BAC40028 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL13031 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL13032 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSMUSP00000082821 | ||
| ENSMUSP00000082821.3 | |||
| ENSMUSP00000141861.2 | |||
| ENSMUSP00000141863.2 | |||
| ENSMUSP00000156175.2 | |||
| GenBank Protein | Q8BFX3 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_766238 ⟸ NM_172650 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q6P7X4 (UniProtKB/Swiss-Prot), Q8BFX3 (UniProtKB/Swiss-Prot) |
| - Sequence: |
| RefSeq Acc Id: | XP_017175671 ⟸ XM_017320182 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
| RefSeq Acc Id: | XP_017175664 ⟸ XM_017320175 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
| RefSeq Acc Id: | XP_030109423 ⟸ XM_030253563 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | NP_001346506 ⟸ NM_001359577 |
| - Peptide Label: | isoform 3 |
| RefSeq Acc Id: | NP_001346507 ⟸ NM_001359578 |
| - Peptide Label: | isoform 4 precursor |
| RefSeq Acc Id: | NP_001346505 ⟸ NM_001359576 |
| - Peptide Label: | isoform 2 |
| Ensembl Acc Id: | ENSMUSP00000082821 ⟸ ENSMUST00000085678 |
| Ensembl Acc Id: | ENSMUSP00000141861 ⟸ ENSMUST00000193143 |
| Ensembl Acc Id: | ENSMUSP00000156175 ⟸ ENSMUST00000192458 |
| Ensembl Acc Id: | ENSMUSP00000141863 ⟸ ENSMUST00000195658 |
| RefSeq Acc Id: | XP_036020115 ⟸ XM_036164222 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | XP_036020112 ⟸ XM_036164219 |
| - Peptide Label: | isoform X1 |
Protein Structures
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-Q8BFX3-F1-model_v2 | AlphaFold | Q8BFX3 | 1-815 | view protein structure |
Promoters
| RGD ID: | 6876062 | ||||||||
| Promoter ID: | EPDNEW_M1482 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Kctd3_1 | ||||||||
| Description: | Mus musculus potassium channel tetramerisation domain containing3 , 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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| RGD ID: | 6817972 | ||||||||
| Promoter ID: | MM_KWN:3260 | ||||||||
| Type: | CpG-Island | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | MPROMDB | ||||||||
| Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day4, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, Spleen | ||||||||
| Transcripts: | NM_172650, UC007EAJ.1 | ||||||||
| Position: |
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Additional Information
External Database Links
| Database | Acc Id | Source(s) |
| AGR Gene | MGI:2444629 | AgrOrtholog |
| Ensembl Genes | ENSMUSG00000026608 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSMUST00000085678 | ENTREZGENE |
| ENSMUST00000085678.8 | UniProtKB/Swiss-Prot | |
| ENSMUST00000192458.3 | UniProtKB/TrEMBL | |
| ENSMUST00000193143 | ENTREZGENE | |
| ENSMUST00000193143.6 | UniProtKB/TrEMBL | |
| ENSMUST00000195658.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.130.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| InterPro | BTB/POZ_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| SHKBP1/KCTD3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| SHKBP1_KCTD3_BTB_POZ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| SKP1/BTB/POZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| T1-type_BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| WD40/YVTN_repeat-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| WD40_repeat | UniProtKB/Swiss-Prot | |
| WD40_repeat_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| KEGG Report | mmu:226823 | UniProtKB/Swiss-Prot |
| MGD | MGI:2444629 | ENTREZGENE |
| NCBI Gene | 226823 | ENTREZGENE |
| PANTHER | BTB/POZ DOMAIN-CONTAINING PROTEIN KCTD3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| SETA BINDING PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| Pfam | BTB_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| PhenoGen | Kctd3 | PhenoGen |
| PROSITE | BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| WD_REPEATS_1 | UniProtKB/Swiss-Prot | |
| SMART | BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| WD40 | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF50978 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
| SSF54695 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
| UniProt | A0A0A6YX67_MOUSE | UniProtKB/TrEMBL |
| A0A0A6YX69_MOUSE | UniProtKB/TrEMBL | |
| A0A338P7C2_MOUSE | UniProtKB/TrEMBL | |
| KCTD3_MOUSE | UniProtKB/Swiss-Prot | |
| Q6P7X4 | ENTREZGENE | |
| Q80VR1_MOUSE | UniProtKB/TrEMBL | |
| Q8BFX3 | ENTREZGENE | |
| UniProt Secondary | Q6P7X4 | UniProtKB/Swiss-Prot |