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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 4B1 | | ISO | RGD:1323545 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease type 4B1 | | ISO | RGD:1323545 | 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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. | Lee HW, etal., J Neurosci. 2010 Apr 21;30(16):5508-18. doi: 10.1523/JNEUROSCI.4283-09.2010. |
4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation 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 |
PMID:12668758 | PMID:12837694 | PMID:16399794 | PMID:16778019 | PMID:16787938 | PMID:18570454 | PMID:19587293 | PMID:21510942 | PMID:22028665 |
Mtmr2 (Rattus norvegicus - Norway rat) |
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MTMR2 (Homo sapiens - human) |
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Mtmr2 (Mus musculus - house mouse) |
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Mtmr2 (Chinchilla lanigera - long-tailed chinchilla) |
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MTMR2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MTMR2 (Canis lupus familiaris - dog) |
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Mtmr2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MTMR2 (Sus scrofa - pig) |
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MTMR2 (Chlorocebus sabaeus - green monkey) |
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Mtmr2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Mtmr2
218 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 |
RH128887 |
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RH129185 |
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RH129330 |
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RH129379 |
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RH129424 |
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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 | 43 | 57 | 41 | 19 | 41 | 8 | 11 | 74 | 35 | 41 | 11 | 8 |
Low | |||||||||||||
Below cutoff |
RefSeq Transcripts | NM_001108123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006242521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006242522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008765932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039081338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039081339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
DQ760741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ217011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ221479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000008566 ⟹ ENSRNOP00000008566 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000096205 ⟹ ENSRNOP00000082304 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000098206 ⟹ ENSRNOP00000080784 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000106341 ⟹ ENSRNOP00000090683 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001108123 ⟹ NP_001101593 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006242521 ⟹ XP_006242583 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006242522 ⟹ XP_006242584 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039081338 ⟹ XP_038937266 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039081339 ⟹ XP_038937267 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001101593 | (Get FASTA) | NCBI Sequence Viewer |
XP_006242583 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006242584 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038937266 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038937267 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL78490 | (Get FASTA) | NCBI Sequence Viewer |
EDL78491 | (Get FASTA) | NCBI Sequence Viewer | |
EDL78492 | (Get FASTA) | NCBI Sequence Viewer | |
EDL78493 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001101593 ⟸ NM_001108123 |
- UniProtKB: | D3ZA31 (UniProtKB/TrEMBL), A0A8I5ZTB8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006242583 ⟸ XM_006242521 |
- Peptide Label: | isoform X2 |
- UniProtKB: | D3ZA31 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006242584 ⟸ XM_006242522 |
- Peptide Label: | isoform X2 |
- UniProtKB: | D3ZA31 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000008566 ⟸ ENSRNOT00000008566 |
RefSeq Acc Id: | XP_038937266 ⟸ XM_039081338 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5ZTB8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038937267 ⟸ XM_039081339 |
- Peptide Label: | isoform X2 |
- UniProtKB: | D3ZA31 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000082304 ⟸ ENSRNOT00000096205 |
RefSeq Acc Id: | ENSRNOP00000080784 ⟸ ENSRNOT00000098206 |
RefSeq Acc Id: | ENSRNOP00000090683 ⟸ ENSRNOT00000106341 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZA31-F1-model_v2 | AlphaFold | D3ZA31 | 1-643 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13695742 | ||||||||
Promoter ID: | EPDNEW_R6265 | ||||||||
Type: | initiation region | ||||||||
Name: | Mtmr2_1 | ||||||||
Description: | myotubularin related protein 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:1311865 | AgrOrtholog |
BioCyc Gene | G2FUF-31707 | BioCyc |
Ensembl Genes | ENSRNOG00000005923 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000008566 | ENTREZGENE |
ENSRNOP00000008566.3 | UniProtKB/TrEMBL | |
ENSRNOP00000080784 | ENTREZGENE | |
ENSRNOP00000080784.1 | UniProtKB/TrEMBL | |
ENSRNOP00000082304 | ENTREZGENE | |
ENSRNOP00000082304.1 | UniProtKB/TrEMBL | |
ENSRNOP00000090683.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000008566 | ENTREZGENE |
ENSRNOT00000008566.6 | UniProtKB/TrEMBL | |
ENSRNOT00000096205 | ENTREZGENE | |
ENSRNOT00000096205.1 | UniProtKB/TrEMBL | |
ENSRNOT00000098206 | ENTREZGENE | |
ENSRNOT00000098206.1 | UniProtKB/TrEMBL | |
ENSRNOT00000106341.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
InterPro | GRAM | UniProtKB/TrEMBL |
Myotub-related | UniProtKB/TrEMBL | |
Myotubularin_fam | UniProtKB/TrEMBL | |
PH_like_dom | UniProtKB/TrEMBL | |
Prot-tyrosine_phosphatase-like | UniProtKB/TrEMBL | |
Tyr/Dual-sp_Pase | UniProtKB/TrEMBL | |
Tyr_Pase_AS | UniProtKB/TrEMBL | |
Tyr_Pase_cat | UniProtKB/TrEMBL | |
KEGG Report | rno:315422 | UniProtKB/TrEMBL |
NCBI Gene | 315422 | ENTREZGENE |
PANTHER | MYOTUBULARIN-RELATED PROTEIN 2 | UniProtKB/TrEMBL |
PTHR10807 | UniProtKB/TrEMBL | |
Pfam | GRAM | UniProtKB/TrEMBL |
Myotub-related | UniProtKB/TrEMBL | |
PhenoGen | Mtmr2 | PhenoGen |
PROSITE | PPASE_MYOTUBULARIN | UniProtKB/TrEMBL |
TYR_PHOSPHATASE_1 | UniProtKB/TrEMBL | |
TYR_PHOSPHATASE_2 | UniProtKB/TrEMBL | |
SMART | GRAM | UniProtKB/TrEMBL |
PTPc_motif | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
SSF52799 | UniProtKB/TrEMBL | |
UniProt | A0A8I5ZQN1_RAT | UniProtKB/TrEMBL |
A0A8I5ZTB8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6ABE9_RAT | UniProtKB/TrEMBL | |
D3ZA31 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-04-30 | Mtmr2 | myotubularin related protein 2 | Mtmr2_predicted | myotubularin related protein 2 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Mtmr2_predicted | myotubularin related protein 2 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |