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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | immunodeficiency 58 | | ISO | RGD:1605284 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | immunodeficiency 58 | | ISO | RGD:1605284 | 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:19846667 | PMID:19946888 | PMID:23793062 | PMID:24097820 | PMID:26466680 | PMID:26578515 |
Carmil2 (Rattus norvegicus - Norway rat) |
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CARMIL2 (Homo sapiens - human) |
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Carmil2 (Mus musculus - house mouse) |
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Carmil2 (Chinchilla lanigera - long-tailed chinchilla) |
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CARMIL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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CARMIL2 (Canis lupus familiaris - dog) |
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Carmil2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CARMIL2 (Sus scrofa - pig) |
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CARMIL2 (Chlorocebus sabaeus - green monkey) |
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Carmil2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Carmil2
48 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 |
RH128404 |
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RH132532 |
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RH144673 |
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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 | 2 | 8 | 17 | 40 | |||||||||
Low | 1 | 36 | 38 | 30 | 2 | 30 | 3 | 5 | 34 | 35 | 41 | 11 | 3 |
Below cutoff | 7 | 11 | 11 | 11 | 5 | 6 | 5 |
RefSeq Transcripts | XM_006222711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006255548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008772559 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008774230 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005497011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005497012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC106288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JACYVU010000313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000041970 ⟹ ENSRNOP00000048530 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000103235 ⟹ ENSRNOP00000088406 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110285 ⟹ ENSRNOP00000092182 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098217 ⟹ XP_038954145 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098218 ⟹ XP_038954146 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098219 ⟹ XP_038954147 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098220 ⟹ XP_038954148 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098222 ⟹ XP_038954150 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098223 ⟹ XP_038954151 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039098224 ⟹ XP_038954152 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005497011 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005497012 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | XP_038954145 | (Get FASTA) | NCBI Sequence Viewer |
XP_038954146 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954147 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954148 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954150 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954151 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954152 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | ENSRNOP00000048530 ⟸ ENSRNOT00000041970 |
RefSeq Acc Id: | XP_038954150 ⟸ XM_039098222 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038954151 ⟸ XM_039098223 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038954152 ⟸ XM_039098224 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038954146 ⟸ XM_039098218 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038954145 ⟸ XM_039098217 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038954147 ⟸ XM_039098219 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038954148 ⟸ XM_039098220 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSRNOP00000092182 ⟸ ENSRNOT00000110285 |
RefSeq Acc Id: | ENSRNOP00000088406 ⟸ ENSRNOT00000103235 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZC15-F1-model_v2 | AlphaFold | D3ZC15 | 1-1368 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13701101 | ||||||||
Promoter ID: | EPDNEW_R11606 | ||||||||
Type: | initiation region | ||||||||
Name: | Carmil2_1 | ||||||||
Description: | capping protein regulator and myosin 1 linker 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:1562390 | AgrOrtholog |
BioCyc Gene | G2FUF-5819 | BioCyc |
Ensembl Genes | ENSRNOG00000024452 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000048530.4 | UniProtKB/TrEMBL |
ENSRNOP00000088406.1 | UniProtKB/TrEMBL | |
ENSRNOP00000092182 | ENTREZGENE | |
ENSRNOP00000092182.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000041970.7 | UniProtKB/TrEMBL |
ENSRNOT00000103235.1 | UniProtKB/TrEMBL | |
ENSRNOT00000110285 | ENTREZGENE | |
ENSRNOT00000110285.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
3.80.10.10 | UniProtKB/TrEMBL | |
InterPro | CARMIL_C | UniProtKB/TrEMBL |
CARMIL_PH | UniProtKB/TrEMBL | |
L_dom-like | UniProtKB/TrEMBL | |
Leu-rich_rpt | UniProtKB/TrEMBL | |
PH-like_dom_sf | UniProtKB/TrEMBL | |
NCBI Gene | 307797 | ENTREZGENE |
PANTHER | LEUCINE-RICH REPEAT, ISOFORM F-RELATED | UniProtKB/TrEMBL |
PTHR24112:SF32 | UniProtKB/TrEMBL | |
Pfam | Carm_PH | UniProtKB/TrEMBL |
CARMIL_C | UniProtKB/TrEMBL | |
LRR_6 | UniProtKB/TrEMBL | |
PhenoGen | Carmil2 | PhenoGen |
SMART | LRR_RI | UniProtKB/TrEMBL |
Superfamily-SCOP | RNI-like | UniProtKB/TrEMBL |
UniProt | A0A8I6A9C8_RAT | UniProtKB/TrEMBL |
A0A8I6AF10_RAT | UniProtKB/TrEMBL | |
D3ZC15_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-04-27 | Carmil2 | capping protein regulator and myosin 1 linker 2 | Rltpr | RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2013-11-25 | Rltpr | RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing | RGD1562390 | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | RGD1562390 | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein | RGD1562390_predicted | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-10 | RGD1562390_predicted | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein (predicted) | Name updated | 1299863 | APPROVED | ||
2006-03-07 | RGD1562390_predicted | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein (predicted) | LOC307797 | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC307797 | similar to RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |