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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypertrophic cardiomyopathy 8 | | ISO | RGD:736456 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypertrophic cardiomyopathy 8 | | ISO | RGD:736456 | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. | Andersen PS, etal., J Med Genet. 2001 Dec;38(12):E43. |
2. | Differential synthesis by cultured atrial and ventricular rat cardiac myocytes of myosin light chain isoforms. | Brand T, etal., FEBS Lett. 1991 Jun 3;283(2):289-90. |
3. | 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. |
4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
5. | Nadrin, a novel neuron-specific GTPase-activating protein involved in regulated exocytosis. | Harada A, etal., J Biol Chem 2000 Nov 24;275(47):36885-91. |
6. | Ventricular myosin light chain 1 is developmentally regulated and does not change in hypertension. | McNally EM, etal., Nucleic Acids Res 1989 Apr 11;17(7):2753-67. |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
9. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
10. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
11. | GOA pipeline | RGD automated data pipeline |
12. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
13. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
14. | Myosin light chain isoforms modify force-generating ability of cardiac myosin by changing the kinetics of actin-myosin interaction. | Yamashita H, etal., Cardiovasc Res. 2003 Dec 1;60(3):580-8. |
PMID:2798124 | PMID:8673105 | PMID:12477932 | PMID:15489334 | PMID:16675844 | PMID:16754800 | PMID:17494635 | PMID:26316108 | PMID:29476059 |
Myl3 (Rattus norvegicus - Norway rat) |
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MYL3 (Homo sapiens - human) |
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Myl3 (Mus musculus - house mouse) |
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Myl3 (Chinchilla lanigera - long-tailed chinchilla) |
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MYL3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MYL3 (Canis lupus familiaris - dog) |
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Myl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MYL3 (Sus scrofa - pig) |
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MYL3 (Chlorocebus sabaeus - green monkey) |
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Myl3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Myl3
26 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 |
D8Wox8 |
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D8Wox9 |
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D8Arb21 |
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RH138771 |
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RH94602 |
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circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | 49 | 3 | 3 | 3 | ||||||||
Medium | 1 | 1 | 1 | 5 | 7 | 2 | 7 | 5 | ||||
Low | 33 | 17 | 17 | 17 | 1 | 44 | 35 | 29 | 1 | |||
Below cutoff | 20 | 20 | 1 | 20 | 30 | 7 | 3 |
RefSeq Transcripts | NM_012606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006243917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC114361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC081832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ216106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ216251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ216255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ217222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ223547 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X14812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X16325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X16326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000028458 ⟹ ENSRNOP00000028458 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000117250 ⟹ ENSRNOP00000079091 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_012606 ⟹ NP_036738 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006243917 ⟹ XP_006243979 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039080803 ⟹ XP_038936731 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080804 ⟹ XP_038936732 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_036738 | (Get FASTA) | NCBI Sequence Viewer |
XP_006243979 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936731 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936732 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH81832 | (Get FASTA) | NCBI Sequence Viewer |
CAA32917 | (Get FASTA) | NCBI Sequence Viewer | |
CAA34388 | (Get FASTA) | NCBI Sequence Viewer | |
EDL77060 | (Get FASTA) | NCBI Sequence Viewer | |
P16409 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_036738 ⟸ NM_012606 |
- UniProtKB: | P16409 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006243979 ⟸ XM_006243917 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P16409 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000028458 ⟸ ENSRNOT00000028458 |
RefSeq Acc Id: | XP_038936732 ⟸ XM_039080804 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038936731 ⟸ XM_039080803 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | ENSRNOP00000079091 ⟸ ENSRNOT00000117250 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P16409-F1-model_v2 | AlphaFold | P16409 | 1-200 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13696336 | ||||||||
Promoter ID: | EPDNEW_R6860 | ||||||||
Type: | single initiation site | ||||||||
Name: | Myl3_1 | ||||||||
Description: | myosin light chain 3 | ||||||||
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:3142 | AgrOrtholog |
BioCyc Gene | G2FUF-29058 | BioCyc |
Ensembl Genes | ENSRNOG00000020955 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000028458 | ENTREZGENE |
ENSRNOP00000028458.2 | UniProtKB/Swiss-Prot | |
ENSRNOP00000079091.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000028458 | ENTREZGENE |
ENSRNOT00000028458.6 | UniProtKB/Swiss-Prot | |
ENSRNOT00000117250.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | EF-hand | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:7192037 | IMAGE-MGC_LOAD |
InterPro | EF-hand-dom_pair | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF_hand_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:24585 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:93574 | IMAGE-MGC_LOAD |
NCBI Gene | 24585 | ENTREZGENE |
PANTHER | MYOSIN LIGHT CHAIN 1, 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MYOSIN LIGHT CHAIN 3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Myl3 | PhenoGen |
PROSITE | EF_HAND_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF47473 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I5ZM89_RAT | UniProtKB/TrEMBL |
MYL3_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-01-11 | Myl3 | myosin light chain 3 | Myl3 | myosin, light chain 3, alkali; ventricular, skeletal, slow | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-11-14 | Myl3 | myosin, light chain 3, alkali; ventricular, skeletal, slow | Myl3 | myosin, light polypeptide 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2002-06-10 | Myl3 | Myosin light chain 3, alkali, cardiac ventricles | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
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gene_expression | displays low expression during development with increased expression after birth and in adult heart | 633422 |