Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tbc1d23 | Rat | pontocerebellar hypoplasia type 11 | | ISO | TBC1D23 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tbc1d23 | Rat | pontocerebellar hypoplasia type 11 | | ISO | TBC1D23 (Homo sapiens) | 7240710 | | OMIM | | |
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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. | 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:12060780 | PMID:22312129 | PMID:28823706 | PMID:28823707 | PMID:29084197 | PMID:29426865 |
Tbc1d23 (Rattus norvegicus - Norway rat) |
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TBC1D23 (Homo sapiens - human) |
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Tbc1d23 (Mus musculus - house mouse) |
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Tbc1d23 (Chinchilla lanigera - long-tailed chinchilla) |
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TBC1D23 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TBC1D23 (Canis lupus familiaris - dog) |
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Tbc1d23 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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TBC1D23 (Sus scrofa - pig) |
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TBC1D23 (Chlorocebus sabaeus - green monkey) |
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Tbc1d23 (Heterocephalus glaber - naked mole-rat) |
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Variants in Tbc1d23
226 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 |
AU015720 |
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RH144429 |
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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_001371895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001371896 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_003751036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_003752486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006221097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006248214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039088379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039088380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BG673671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000002240 ⟹ ENSRNOP00000002240 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000102661 ⟹ ENSRNOP00000089797 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000106080 ⟹ ENSRNOP00000077180 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001371895 ⟹ NP_001358824 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001371896 ⟹ NP_001358825 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039088379 ⟹ XP_038944307 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039088380 ⟹ XP_038944308 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001358824 | (Get FASTA) | NCBI Sequence Viewer |
NP_001358825 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038944307 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038944308 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDM11031 | (Get FASTA) | NCBI Sequence Viewer |
EDM11032 | (Get FASTA) | NCBI Sequence Viewer | |
EDM11033 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000002240.6 | ||
ENSRNOP00000077180.1 | |||
ENSRNOP00000089797.1 |
Ensembl Acc Id: | ENSRNOP00000002240 ⟸ ENSRNOT00000002240 |
RefSeq Acc Id: | NP_001358824 ⟸ NM_001371895 |
- Peptide Label: | 1 |
- UniProtKB: | D4AAH9 (UniProtKB/TrEMBL), A0A8I5YBN9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001358825 ⟸ NM_001371896 |
- Peptide Label: | 2 |
- UniProtKB: | A0A8I6AAK0 (UniProtKB/TrEMBL), A6IQM8 (UniProtKB/TrEMBL), A0A8I5YBN9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038944307 ⟸ XM_039088379 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5YBN9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038944308 ⟸ XM_039088380 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A6IQM9 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSRNOP00000077180 ⟸ ENSRNOT00000106080 |
Ensembl Acc Id: | ENSRNOP00000089797 ⟸ ENSRNOT00000102661 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D4AAH9-F1-model_v2 | AlphaFold | D4AAH9 | 1-699 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698111 | ||||||||
Promoter ID: | EPDNEW_R8632 | ||||||||
Type: | initiation region | ||||||||
Name: | Tbc1d23_2 | ||||||||
Description: | TBC1 domain family, member 23 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R8633 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13698113 | ||||||||
Promoter ID: | EPDNEW_R8633 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Tbc1d23_1 | ||||||||
Description: | TBC1 domain family, member 23 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R8632 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:1307925 | AgrOrtholog |
BioCyc Gene | G2FUF-21541 | BioCyc |
Ensembl Genes | ENSRNOG00000001642 | Ensembl, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000002240.8 | UniProtKB/TrEMBL |
ENSRNOT00000102661.1 | UniProtKB/TrEMBL | |
ENSRNOT00000106080.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.250.10 | UniProtKB/TrEMBL |
Ypt/Rab-GAP domain of gyp1p, domain 3 | UniProtKB/TrEMBL | |
InterPro | Rab-GTPase-TBC_dom | UniProtKB/TrEMBL |
Rab-GTPase_TBC_sf | UniProtKB/TrEMBL | |
Rhodanese-like_dom | UniProtKB/TrEMBL | |
Rhodanese-like_dom_sf | UniProtKB/TrEMBL | |
TBC1D23 | UniProtKB/TrEMBL | |
TBC1D23_C | UniProtKB/TrEMBL | |
NCBI Gene | 304019 | ENTREZGENE |
PANTHER | PTHR13297 | UniProtKB/TrEMBL |
TBC1 DOMAIN FAMILY MEMBER 23 | UniProtKB/TrEMBL | |
Pfam | RabGAP-TBC | UniProtKB/TrEMBL |
Rhodanese | UniProtKB/TrEMBL | |
TBC1D23_C | UniProtKB/TrEMBL | |
PhenoGen | Tbc1d23 | PhenoGen |
PROSITE | RHODANESE_3 | UniProtKB/TrEMBL |
TBC_RABGAP | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000001642 | RatGTEx |
SMART | TBC | UniProtKB/TrEMBL |
Superfamily-SCOP | RabGAP_TBC | UniProtKB/TrEMBL |
Rhodanese-like | UniProtKB/TrEMBL | |
UniProt | A0A8I5YBN9 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6AAK0 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IQM8 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IQM9 | ENTREZGENE, UniProtKB/TrEMBL | |
D4AAH9 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-04-30 | Tbc1d23 | TBC1 domain family, member 23 | Tbc1d23_predicted | TBC1 domain family, member 23 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-30 | Tbc1d23_predicted | TBC1 domain family, member 23 (predicted) | RGD1307925_predicted | similar to RIKEN cDNA 4930451A13 (predicted) | Symbol and Name updated | 1299863 | APPROVED |
2005-01-20 | RGD1307925_predicted | similar to RIKEN cDNA 4930451A13 (predicted) | LOC304019_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC304019_predicted | similar to RIKEN cDNA 4930451A13 (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |