Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | | ISO | RIN2 (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) | Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | | ISO | RIN2 (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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
4. | GOA pipeline | RGD automated data pipeline |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Rin2 (Rattus norvegicus - Norway rat) |
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RIN2 (Homo sapiens - human) |
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Rin2 (Mus musculus - house mouse) |
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Rin2 (Chinchilla lanigera - long-tailed chinchilla) |
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RIN2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RIN2 (Canis lupus familiaris - dog) |
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Rin2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RIN2 (Sus scrofa - pig) |
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RIN2 (Chlorocebus sabaeus - green monkey) |
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Rin2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Rin2
1607 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 |
D3Rat217 |
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D3Got99 |
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RH143773 |
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RH144685 |
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AU047563 |
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RH142025 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 40 | 29 | 18 | 7 | 18 | 2 | 2 | 65 | 35 | 39 | 11 | 2 |
Low | 3 | 28 | 23 | 12 | 23 | 6 | 9 | 9 | 2 | 6 | |||
Below cutoff |
RefSeq Transcripts | NM_001107786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006235142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006235143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006235146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006235147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006235148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006235150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008762270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008762271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017591768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039105047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH474026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000064695 ⟹ ENSRNOP00000059327 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000086409 ⟹ ENSRNOP00000072197 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000096314 ⟹ ENSRNOP00000083107 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001107786 ⟹ NP_001101256 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006235142 ⟹ XP_006235204 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006235146 ⟹ XP_006235208 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006235148 ⟹ XP_006235210 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006235150 ⟹ XP_006235212 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017591763 ⟹ XP_017447252 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017591764 ⟹ XP_017447253 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017591766 ⟹ XP_017447255 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039105047 ⟹ XP_038960975 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063283805 ⟹ XP_063139875 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063283806 ⟹ XP_063139876 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063283807 ⟹ XP_063139877 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063283808 ⟹ XP_063139878 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001101256 | (Get FASTA) | NCBI Sequence Viewer |
XP_006235204 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006235208 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006235210 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006235212 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017447252 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017447253 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017447255 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038960975 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139875 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139876 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139877 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139878 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL95142 | (Get FASTA) | NCBI Sequence Viewer |
EDL95143 | (Get FASTA) | NCBI Sequence Viewer | |
EDL95144 | (Get FASTA) | NCBI Sequence Viewer | |
EDL95145 | (Get FASTA) | NCBI Sequence Viewer | |
EDL95146 | (Get FASTA) | NCBI Sequence Viewer | |
EDL95147 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000059327 | ||
ENSRNOP00000059327.1 | |||
ENSRNOP00000072197 | |||
ENSRNOP00000072197.1 | |||
ENSRNOP00000083107 | |||
ENSRNOP00000083107.1 |
RefSeq Acc Id: | NP_001101256 ⟸ NM_001107786 |
- UniProtKB: | D4A6C4 (UniProtKB/TrEMBL), A6K774 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006235204 ⟸ XM_006235142 |
- Peptide Label: | isoform X1 |
- UniProtKB: | D4A6C4 (UniProtKB/TrEMBL), A6K774 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006235208 ⟸ XM_006235146 |
- Peptide Label: | isoform X1 |
- UniProtKB: | D4A6C4 (UniProtKB/TrEMBL), A6K774 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006235210 ⟸ XM_006235148 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I5ZUT7 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006235212 ⟸ XM_006235150 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A0G2K2D2 (UniProtKB/TrEMBL), A6K775 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017447253 ⟸ XM_017591764 |
- Peptide Label: | isoform X1 |
- UniProtKB: | D4A6C4 (UniProtKB/TrEMBL), A6K774 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017447252 ⟸ XM_017591763 |
- Peptide Label: | isoform X1 |
- UniProtKB: | D4A6C4 (UniProtKB/TrEMBL), A6K774 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017447255 ⟸ XM_017591766 |
- Peptide Label: | isoform X4 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000072197 ⟸ ENSRNOT00000086409 |
RefSeq Acc Id: | ENSRNOP00000059327 ⟸ ENSRNOT00000064695 |
RefSeq Acc Id: | XP_038960975 ⟸ XM_039105047 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSRNOP00000083107 ⟸ ENSRNOT00000096314 |
RefSeq Acc Id: | XP_063139876 ⟸ XM_063283806 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6K774 (UniProtKB/TrEMBL), D4A6C4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063139877 ⟸ XM_063283807 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6K774 (UniProtKB/TrEMBL), D4A6C4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063139875 ⟸ XM_063283805 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6K774 (UniProtKB/TrEMBL), D4A6C4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063139878 ⟸ XM_063283808 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A0G2K2D2 (UniProtKB/TrEMBL), A6K775 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D4A6C4-F1-model_v2 | AlphaFold | D4A6C4 | 1-902 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13692489 | ||||||||
Promoter ID: | EPDNEW_R3014 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Rin2_1 | ||||||||
Description: | Ras and Rab interactor 2 | ||||||||
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:1305873 | AgrOrtholog |
BioCyc Gene | G2FUF-47582 | BioCyc |
Ensembl Genes | ENSRNOG00000010131 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000064695 | ENTREZGENE |
ENSRNOT00000064695.3 | UniProtKB/TrEMBL | |
ENSRNOT00000086409.2 | UniProtKB/TrEMBL | |
ENSRNOT00000096314.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1050.80 | UniProtKB/TrEMBL |
3.30.505.10 | UniProtKB/TrEMBL | |
InterPro | Ras-assoc | UniProtKB/TrEMBL |
RIN2_SH2 | UniProtKB/TrEMBL | |
SH2 | UniProtKB/TrEMBL | |
SH2_dom_sf | UniProtKB/TrEMBL | |
Ubiquitin-rel_dom | UniProtKB/TrEMBL | |
VPS9 | UniProtKB/TrEMBL | |
Vps9-like | UniProtKB/TrEMBL | |
VPS9_dom_sf | UniProtKB/TrEMBL | |
KEGG Report | rno:311494 | UniProtKB/TrEMBL |
NCBI Gene | 311494 | ENTREZGENE |
PANTHER | PTHR23101 | UniProtKB/TrEMBL |
RAS AND RAB INTERACTOR 2 | UniProtKB/TrEMBL | |
Pfam | PF00788 | UniProtKB/TrEMBL |
VPS9 | UniProtKB/TrEMBL | |
PhenoGen | Rin2 | PhenoGen |
PROSITE | PS50200 | UniProtKB/TrEMBL |
SH2 | UniProtKB/TrEMBL | |
VPS9 | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000010131 | RatGTEx |
SMART | SH2 | UniProtKB/TrEMBL |
SM00314 | UniProtKB/TrEMBL | |
VPS9 | UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF109993 | UniProtKB/TrEMBL |
SSF54236 | UniProtKB/TrEMBL | |
SSF55550 | UniProtKB/TrEMBL | |
UniProt | A0A0G2K2D2 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZUT7 | ENTREZGENE, UniProtKB/TrEMBL | |
A6K774 | ENTREZGENE, UniProtKB/TrEMBL | |
A6K775 | ENTREZGENE, UniProtKB/TrEMBL | |
D4A6C4 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-04-30 | Rin2 | Ras and Rab interactor 2 | Rin2_predicted | Ras and Rab interactor 2 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Rin2_predicted | Ras and Rab interactor 2 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |