Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | ISO | REPS2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19776672 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Breast Neoplasms | | ISO | REPS2 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19776672 | |
|
|
|
|
|
# | 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. | GOA pipeline | RGD automated data pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Reps2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
REPS2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Reps2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Reps2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
REPS2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
REPS2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Reps2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
REPS2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
REPS2 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Reps2 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Reps2
1187 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 |
RH142693 |
|
||||||||||||||||||||||||||||||||||||||||
BI282009 |
|
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 | 3 | 3 | 42 | 10 | 6 | 11 | ||||||
Low | 3 | 37 | 48 | 32 | 18 | 32 | 8 | 8 | 26 | 25 | 32 | 8 | |
Below cutoff | 5 | 6 | 6 | 1 | 6 | 2 | 6 | 3 |
RefSeq Transcripts | NM_001427498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_003754759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006227316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006227317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008773209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008773210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017588213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039100479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063280134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063280135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063280136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063280137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH474014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000079365 ⟹ ENSRNOP00000072143 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000085993 ⟹ ENSRNOP00000073149 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000090041 ⟹ ENSRNOP00000071890 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000095937 ⟹ ENSRNOP00000078390 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000102637 ⟹ ENSRNOP00000081016 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000103208 ⟹ ENSRNOP00000092759 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000112593 ⟹ ENSRNOP00000090746 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001427498 ⟹ NP_001414427 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_039100469 ⟹ XP_038956397 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100471 ⟹ XP_038956399 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100472 ⟹ XP_038956400 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100473 ⟹ XP_038956401 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100474 ⟹ XP_038956402 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100475 ⟹ XP_038956403 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100476 ⟹ XP_038956404 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100477 ⟹ XP_038956405 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100478 ⟹ XP_038956406 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_039100479 ⟹ XP_038956407 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | XM_063280134 ⟹ XP_063136204 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063280135 ⟹ XP_063136205 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063280136 ⟹ XP_063136206 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_063280137 ⟹ XP_063136207 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001414427 | (Get FASTA) | NCBI Sequence Viewer |
XP_038956397 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956399 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956400 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956401 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956402 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956403 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956404 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956405 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956406 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038956407 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063136204 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063136205 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063136206 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063136207 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL90488 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000071890 | ||
ENSRNOP00000071890.2 | |||
ENSRNOP00000072143 | |||
ENSRNOP00000072143.2 | |||
ENSRNOP00000073149.2 | |||
ENSRNOP00000078390 | |||
ENSRNOP00000078390.1 | |||
ENSRNOP00000081016 | |||
ENSRNOP00000081016.1 | |||
ENSRNOP00000090746.1 | |||
ENSRNOP00000092759.1 |
RefSeq Acc Id: | ENSRNOP00000072143 ⟸ ENSRNOT00000079365 |
RefSeq Acc Id: | ENSRNOP00000071890 ⟸ ENSRNOT00000090041 |
RefSeq Acc Id: | ENSRNOP00000073149 ⟸ ENSRNOT00000085993 |
RefSeq Acc Id: | XP_038956397 ⟸ XM_039100469 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A6K2P2 (UniProtKB/TrEMBL), A0A8I5ZKT6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956400 ⟸ XM_039100472 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I5ZKT6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956399 ⟸ XM_039100471 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I5ZKT6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956401 ⟸ XM_039100473 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8I5ZKT6 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956402 ⟸ XM_039100474 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8I6G7F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956406 ⟸ XM_039100478 |
- Peptide Label: | isoform X11 |
- UniProtKB: | A0A8I6G7F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956404 ⟸ XM_039100476 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A8I6G7F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956407 ⟸ XM_039100479 |
- Peptide Label: | isoform X13 |
- UniProtKB: | A0A8I6G7F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956403 ⟸ XM_039100475 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A0G2K285 (UniProtKB/TrEMBL), A0A8I6G7F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038956405 ⟸ XM_039100477 |
- Peptide Label: | isoform X10 |
- UniProtKB: | A0A8I6G7F0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000081016 ⟸ ENSRNOT00000102637 |
RefSeq Acc Id: | ENSRNOP00000078390 ⟸ ENSRNOT00000095937 |
RefSeq Acc Id: | ENSRNOP00000092759 ⟸ ENSRNOT00000103208 |
RefSeq Acc Id: | ENSRNOP00000090746 ⟸ ENSRNOT00000112593 |
RefSeq Acc Id: | XP_063136206 ⟸ XM_063280136 |
- Peptide Label: | isoform X12 |
RefSeq Acc Id: | XP_063136205 ⟸ XM_063280135 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_063136207 ⟸ XM_063280137 |
- Peptide Label: | isoform X14 |
RefSeq Acc Id: | NP_001414427 ⟸ NM_001427498 |
RefSeq Acc Id: | XP_063136204 ⟸ XM_063280134 |
- Peptide Label: | isoform X4 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-A0A0G2K1L4-F1-model_v2 | AlphaFold | A0A0G2K1L4 | 1-574 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1561642 | AgrOrtholog |
BioCyc Gene | G2FUF-2527 | BioCyc |
Ensembl Genes | ENSRNOG00000061508 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000079365.2 | UniProtKB/TrEMBL |
ENSRNOT00000085993.2 | UniProtKB/TrEMBL | |
ENSRNOT00000090041.2 | UniProtKB/TrEMBL | |
ENSRNOT00000095937.1 | UniProtKB/TrEMBL | |
ENSRNOT00000102637.1 | UniProtKB/TrEMBL | |
ENSRNOT00000103208.1 | UniProtKB/TrEMBL | |
ENSRNOT00000112593.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | EF-hand | UniProtKB/TrEMBL |
InterPro | EF-hand-dom_pair | UniProtKB/TrEMBL |
EF_Hand_1_Ca_BS | UniProtKB/TrEMBL | |
EF_hand_dom | UniProtKB/TrEMBL | |
EH_dom | UniProtKB/TrEMBL | |
NCBI Gene | 363466 | ENTREZGENE |
PANTHER | EH DOMAIN | UniProtKB/TrEMBL |
RALBP1-ASSOCIATED EPS DOMAIN-CONTAINING PROTEIN 2 | UniProtKB/TrEMBL | |
Pfam | EF-hand_4 | UniProtKB/TrEMBL |
PhenoGen | Reps2 | PhenoGen |
PROSITE | EF_HAND_1 | UniProtKB/TrEMBL |
EF_HAND_2 | UniProtKB/TrEMBL | |
PS50031 | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000061508 | RatGTEx |
SMART | SM00027 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF47473 | UniProtKB/TrEMBL |
UniProt | A0A0G2K1L4_RAT | UniProtKB/TrEMBL |
A0A0G2K285 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A0G2K4S1_RAT | UniProtKB/TrEMBL | |
A0A8I5ZKT6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6AED1_RAT | UniProtKB/TrEMBL | |
A0A8I6AHM4_RAT | UniProtKB/TrEMBL | |
A0A8I6G7F0 | ENTREZGENE, UniProtKB/TrEMBL | |
A6K2P2 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2013-03-06 | Reps2 | RALBP1 associated Eps domain containing 2 | Reps2-ps1 | RALBP1 associated Eps domain containing 2, pseudogene 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-06-09 | Reps2-ps1 | RALBP1 associated Eps domain containing 2, pseudogene 1 | Reps2 | RALBP1 associated Eps domain containing 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-11-04 | Reps2 | RALBP1 associated Eps domain containing 2 | Reps2 | RALBP1 associated Eps domain containing protein 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-29 | Reps2 | RALBP1 associated Eps domain containing protein 2 | RGD1561642_predicted | similar to RalBP1 associated Eps domain containing protein 2 (RalBP1-interacting protein 2) (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-10 | RGD1561642_predicted | similar to RalBP1 associated Eps domain containing protein 2 (RalBP1-interacting protein 2) (predicted) | similar to RalBP1 associated Eps domain containing protein 2 (RalBP1-interacting protein 2) (Partner of RalBP1) (predicted) | Name updated | 1299863 | APPROVED | |
2006-03-07 | RGD1561642_predicted | similar to RalBP1 associated Eps domain containing protein 2 (RalBP1-interacting protein 2) (Partner of RalBP1) (predicted) | LOC363466 | similar to RalBP1 associated Eps domain containing protein 2 (RalBP1-interacting protein 2) (Partner of RalBP1) | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC363466 | similar to RalBP1 associated Eps domain containing protein 2 (RalBP1-interacting protein 2) (Partner of RalBP1) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |