Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | restless legs syndrome | | ISO | BTBD9 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17637780 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | restless legs syndrome | | ISO | BTBD9 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17637780 | |
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# | 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. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
4. | 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. |
5. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
8. | Database resources of the National Center for Biotechnology Information. | Wheeler DL, etal., Nucleic Acids Res 2001 Jan 1;29(1):11-6. |
PMID:8858346 | PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:15226823 | PMID:15368895 | PMID:15489334 | PMID:15618518 |
PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:18287559 | PMID:18363860 | PMID:18799693 | PMID:20412781 | PMID:21267068 | PMID:21677750 | PMID:21873635 | PMID:22536397 | PMID:22678064 |
PMID:24194600 | PMID:24642863 | PMID:27507650 | PMID:27626380 | PMID:28671696 | PMID:28706196 | PMID:31146259 | PMID:31444227 | PMID:31704978 | PMID:31715135 | PMID:32325033 | PMID:32446853 |
PMID:32468214 | PMID:36244636 |
Btbd9 (Mus musculus - house mouse) |
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BTBD9 (Homo sapiens - human) |
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Btbd9 (Rattus norvegicus - Norway rat) |
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Btbd9 (Chinchilla lanigera - long-tailed chinchilla) |
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BTBD9 (Pan paniscus - bonobo/pygmy chimpanzee) |
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BTBD9 (Canis lupus familiaris - dog) |
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Btbd9 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BTBD9 (Sus scrofa - pig) |
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BTBD9 (Chlorocebus sabaeus - green monkey) |
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Btbd9 (Heterocephalus glaber - naked mole-rat) |
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Variants in Btbd9
12207 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 |
D17Mit60 |
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UniSTS:237614 |
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AI464421 |
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324M10-T7 |
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58205-T7 |
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RefSeq Transcripts | NM_027060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_172618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006524094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006524095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006524096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011246395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030249696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160523 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_036160525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC113540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC125044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC125544 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC165962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK006275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK029578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK029907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK052664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK087881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK153973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK160851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK173285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK192309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BB614864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC037031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC057897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC063095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000079924 ⟹ ENSMUSP00000078845 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000168787 ⟹ ENSMUSP00000127300 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235187 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235299 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235342 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235431 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235555 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235587 ⟹ ENSMUSP00000157721 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000235643 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236153 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236233 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236430 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236584 ⟹ ENSMUSP00000157702 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236799 ⟹ ENSMUSP00000157534 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236825 ⟹ ENSMUSP00000157736 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000236910 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237013 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237037 ⟹ ENSMUSP00000157719 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237048 ⟹ ENSMUSP00000157449 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237078 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237164 ⟹ ENSMUSP00000157439 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237635 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237675 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237732 ⟹ ENSMUSP00000158394 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000237825 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_027060 ⟹ NP_081336 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_172618 ⟹ NP_766206 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006524094 ⟹ XP_006524157 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006524095 ⟹ XP_006524158 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006524096 ⟹ XP_006524159 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011246395 ⟹ XP_011244697 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030249696 ⟹ XP_030105556 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160523 ⟹ XP_036016416 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_036160525 ⟹ XP_036016418 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_081336 | (Get FASTA) | NCBI Sequence Viewer |
NP_766206 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006524157 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006524158 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006524159 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011244697 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030105556 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016416 | (Get FASTA) | NCBI Sequence Viewer | |
XP_036016418 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH57897 | (Get FASTA) | NCBI Sequence Viewer |
AAH63095 | (Get FASTA) | NCBI Sequence Viewer | |
BAB24498 | (Get FASTA) | NCBI Sequence Viewer | |
BAC26521 | (Get FASTA) | NCBI Sequence Viewer | |
BAC35088 | (Get FASTA) | NCBI Sequence Viewer | |
BAC40032 | (Get FASTA) | NCBI Sequence Viewer | |
BAD32563 | (Get FASTA) | NCBI Sequence Viewer | |
BAE32290 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36045 | (Get FASTA) | NCBI Sequence Viewer | |
EDL22639 | (Get FASTA) | NCBI Sequence Viewer | |
EDL22640 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000078845 | ||
ENSMUSP00000078845.6 | |||
ENSMUSP00000127300 | |||
ENSMUSP00000127300.2 | |||
ENSMUSP00000157439.2 | |||
ENSMUSP00000157449 | |||
ENSMUSP00000157449.2 | |||
ENSMUSP00000157534 | |||
ENSMUSP00000157534.2 | |||
ENSMUSP00000157702.2 | |||
ENSMUSP00000157719.2 | |||
ENSMUSP00000157721.2 | |||
ENSMUSP00000157736.2 | |||
ENSMUSP00000158394.2 | |||
GenBank Protein | Q8C726 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_766206 ⟸ NM_172618 |
- UniProtKB: | Q8C726 (UniProtKB/Swiss-Prot), Q3U4Z0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_081336 ⟸ NM_027060 |
- UniProtKB: | Q8C726 (UniProtKB/Swiss-Prot), Q3U4Z0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006524157 ⟸ XM_006524094 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q3U4Z0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006524158 ⟸ XM_006524095 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q8C2V5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006524159 ⟸ XM_006524096 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A494B989 (UniProtKB/TrEMBL), Q8C2V5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011244697 ⟸ XM_011246395 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q3U4Z0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_030105556 ⟸ XM_030249696 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q8C726 (UniProtKB/Swiss-Prot), Q3U4Z0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSMUSP00000157449 ⟸ ENSMUST00000237048 |
RefSeq Acc Id: | ENSMUSP00000157719 ⟸ ENSMUST00000237037 |
RefSeq Acc Id: | ENSMUSP00000157439 ⟸ ENSMUST00000237164 |
RefSeq Acc Id: | ENSMUSP00000158394 ⟸ ENSMUST00000237732 |
RefSeq Acc Id: | ENSMUSP00000078845 ⟸ ENSMUST00000079924 |
RefSeq Acc Id: | ENSMUSP00000157702 ⟸ ENSMUST00000236584 |
RefSeq Acc Id: | ENSMUSP00000157736 ⟸ ENSMUST00000236825 |
RefSeq Acc Id: | ENSMUSP00000157534 ⟸ ENSMUST00000236799 |
RefSeq Acc Id: | ENSMUSP00000127300 ⟸ ENSMUST00000168787 |
RefSeq Acc Id: | ENSMUSP00000157721 ⟸ ENSMUST00000235587 |
RefSeq Acc Id: | XP_036016418 ⟸ XM_036160525 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A494B989 (UniProtKB/TrEMBL), Q8C2V5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_036016416 ⟸ XM_036160523 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q8C2V5 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8C726-F1-model_v2 | AlphaFold | Q8C726 | 1-612 | view protein structure |
RGD ID: | 13675442 | ||||||||
Promoter ID: | EPDNEW_M21870 | ||||||||
Type: | initiation region | ||||||||
Name: | Btbd9_1 | ||||||||
Description: | Mus musculus BTB domain containing 9 , transcript variant 2,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:1916625 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000062202 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000079924 | ENTREZGENE |
ENSMUST00000079924.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000168787 | ENTREZGENE | |
ENSMUST00000168787.8 | UniProtKB/Swiss-Prot | |
ENSMUST00000235587.2 | UniProtKB/TrEMBL | |
ENSMUST00000236584.2 | UniProtKB/TrEMBL | |
ENSMUST00000236799 | ENTREZGENE | |
ENSMUST00000236799.2 | UniProtKB/TrEMBL | |
ENSMUST00000236825.2 | UniProtKB/TrEMBL | |
ENSMUST00000237037.2 | UniProtKB/TrEMBL | |
ENSMUST00000237048 | ENTREZGENE | |
ENSMUST00000237048.2 | UniProtKB/Swiss-Prot | |
ENSMUST00000237164.2 | UniProtKB/TrEMBL | |
ENSMUST00000237732.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.25.40.420 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Galactose-binding domain-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | BACK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BTB/POZ_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
BTBD9_BACK-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FA58C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Galactose-bd-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SKP1/BTB/POZ_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:224671 | UniProtKB/Swiss-Prot |
MGD | MGI:1916625 | ENTREZGENE |
NCBI Gene | 224671 | ENTREZGENE |
PANTHER | BTB/POZ DOMAIN-CONTAINING PROTEIN 9 | UniProtKB/Swiss-Prot |
BTB/POZ DOMAIN-CONTAINING PROTEIN 9 | UniProtKB/Swiss-Prot | |
BTB/POZ DOMAIN-CONTAINING PROTEIN 9 | UniProtKB/TrEMBL | |
BTB/POZ DOMAIN-CONTAINING PROTEIN 9 | UniProtKB/TrEMBL | |
Pfam | BACK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
F5_F8_type_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Btbd9 | PhenoGen |
PROSITE | BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | BACK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
BTB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF49785 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF54695 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A494B946_MOUSE | UniProtKB/TrEMBL |
A0A494B989 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A494B9M3_MOUSE | UniProtKB/TrEMBL | |
A0A494B9P6_MOUSE | UniProtKB/TrEMBL | |
A0A494B9Q1_MOUSE | UniProtKB/TrEMBL | |
A0A494B9R7_MOUSE | UniProtKB/TrEMBL | |
A0A494BBB8_MOUSE | UniProtKB/TrEMBL | |
BTBD9_MOUSE | UniProtKB/Swiss-Prot | |
Q3TUC6_MOUSE | UniProtKB/TrEMBL | |
Q3U4Z0 | ENTREZGENE, UniProtKB/TrEMBL | |
Q69Z81_MOUSE | UniProtKB/TrEMBL | |
Q6P541_MOUSE | UniProtKB/TrEMBL | |
Q8C2V5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q8C726 | ENTREZGENE | |
Q8CDU2_MOUSE | UniProtKB/TrEMBL | |
Q9DA12_MOUSE | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2023-07-04 | Btbd9 | BTB domain containing 9 | Btbd9 | BTB (POZ) domain containing 9 | Symbol and/or name change | 5135510 | APPROVED |