Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tbc1d20 | Rat | Warburg micro syndrome | | ISO | TBC1D20 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tbc1d20 | Rat | Warburg micro syndrome | | ISO | TBC1D20 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | 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. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | GOA pipeline | RGD automated data pipeline |
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 |
6. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:14757819 | PMID:17646400 | PMID:17684057 | PMID:17686842 | PMID:21680502 | PMID:22491470 | PMID:24239381 |
Tbc1d20 (Rattus norvegicus - Norway rat) |
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TBC1D20 (Homo sapiens - human) |
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Tbc1d20 (Mus musculus - house mouse) |
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Tbc1d20 (Chinchilla lanigera - long-tailed chinchilla) |
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TBC1D20 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TBC1D20 (Canis lupus familiaris - dog) |
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Tbc1d20 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TBC1D20 (Sus scrofa - pig) |
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TBC1D20 (Chlorocebus sabaeus - green monkey) |
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Tbc1d20 (Heterocephalus glaber - naked mole-rat) |
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Variants in Tbc1d20
120 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 |
BE118229 |
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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 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
RefSeq Transcripts | NM_001004281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008762348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063284176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC079383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000008713 ⟹ ENSRNOP00000008713 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001004281 ⟹ NP_001004281 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039105482 ⟹ XP_038961410 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105483 ⟹ XP_038961411 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039105485 ⟹ XP_038961413 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063284174 ⟹ XP_063140244 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063284175 ⟹ XP_063140245 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063284176 ⟹ XP_063140246 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001004281 | (Get FASTA) | NCBI Sequence Viewer |
XP_038961410 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961411 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038961413 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140244 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140245 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063140246 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH79383 | (Get FASTA) | NCBI Sequence Viewer |
EDL86079 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000008713.2 |
RefSeq Acc Id: | NP_001004281 ⟸ NM_001004281 |
- UniProtKB: | Q6AXR1 (UniProtKB/TrEMBL), A6KHM6 (UniProtKB/TrEMBL), F7EVY6 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000008713 ⟸ ENSRNOT00000008713 |
RefSeq Acc Id: | XP_038961413 ⟸ XM_039105485 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038961411 ⟸ XM_039105483 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038961410 ⟸ XM_039105482 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_063140244 ⟸ XM_063284174 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_063140246 ⟸ XM_063284176 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_063140245 ⟸ XM_063284175 |
- Peptide Label: | isoform X4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6AXR1-F1-model_v2 | AlphaFold | Q6AXR1 | 1-402 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13692532 | ||||||||
Promoter ID: | EPDNEW_R3057 | ||||||||
Type: | initiation region | ||||||||
Name: | Tbc1d20_1 | ||||||||
Description: | TBC1 domain family, member 20 | ||||||||
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 | RGD:1303293 | AgrOrtholog |
BioCyc Gene | G2FUF-47278 | BioCyc |
Ensembl Genes | ENSRNOG00000005766 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000008713.5 | UniProtKB/TrEMBL |
Gene3D-CATH | 1.10.8.1310 | UniProtKB/TrEMBL |
Ypt/Rab-GAP domain of gyp1p, domain 3 | UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7111239 | IMAGE-MGC_LOAD |
InterPro | Rab-GTPase_TBC_sf | UniProtKB/TrEMBL |
RabGAP_TBC | UniProtKB/TrEMBL | |
TBC20/Gyp8-like | UniProtKB/TrEMBL | |
KEGG Report | rno:362237 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:94895 | IMAGE-MGC_LOAD |
NCBI Gene | 362237 | ENTREZGENE |
PANTHER | PTHR20913 | UniProtKB/TrEMBL |
TBC1 DOMAIN FAMILY MEMBER 20 | UniProtKB/TrEMBL | |
Pfam | TBC | UniProtKB/TrEMBL |
PhenoGen | Tbc1d20 | PhenoGen |
PROSITE | TBC_RABGAP | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000005766 | RatGTEx |
SMART | TBC | UniProtKB/TrEMBL |
Superfamily-SCOP | RabGAP_TBC | UniProtKB/TrEMBL |
UniProt | A6KHM6 | ENTREZGENE, UniProtKB/TrEMBL |
F7EVY6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6AXR1 | ENTREZGENE | |
UniProt Secondary | Q6AXR1 | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2006-03-30 | Tbc1d20 | TBC1 domain family, member 20 | MGC94895 | similar to chromosome 20 open reading frame 140 | Symbol and Name updated | 1299863 | APPROVED |
2005-09-30 | MGC94895 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |