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# | Reference Title | Reference Citation |
1. | Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C. | Brown LJ, etal., Eur Biophys J. 2002 Sep;31(5):400-8. Epub 2002 Jun 25. |
2. | Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. | Carrier L, etal., Circ Res. 1997 Mar;80(3):427-34. |
3. | Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect. | Garcia-Castro M, etal., Int J Cardiol. 2005 Jul 20;102(3):501-7. Epub 2004 Sep 23. |
4. | 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. |
5. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
6. | Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. | Jaaskelainen P, etal., J Mol Med. 2002 Jul;80(7):412-22. Epub 2002 Apr 11. |
7. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
8. | Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. | Niimura H, etal., N Engl J Med. 1998 Apr 30;338(18):1248-57. |
9. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
10. | Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. | Peddy SB, etal., Pediatrics. 2006 May;117(5):1830-3. |
11. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
12. | GOA pipeline | RGD automated data pipeline |
13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
15. | Comprehensive gene review and curation | RGD comprehensive gene curation |
16. | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | Van Driest SL, etal., J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10. |
17. | MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. | Wang P, etal., Biochem Biophys Res Commun. 2005 Apr 8;329(2):796-9. |
18. | Alteration of myosin cross bridges by phosphorylation of myosin-binding protein C in cardiac muscle. | Weisberg A and Winegrad S, Proc Natl Acad Sci U S A. 1996 Aug 20;93(17):8999-9003. |
PMID:7493025 | PMID:8618961 | PMID:9784245 | PMID:10024460 | PMID:10532952 | PMID:10545522 | PMID:11815426 | PMID:14500336 | PMID:15059932 | PMID:15472117 | PMID:16224063 | PMID:16380103 |
PMID:16754800 | PMID:17075052 | PMID:17192269 | PMID:17254601 | PMID:18201573 | PMID:19850579 | PMID:21971072 | PMID:22527638 | PMID:22982234 | PMID:25512492 | PMID:25583989 | PMID:25771144 |
PMID:26316108 | PMID:27233767 | PMID:28315668 | PMID:29470978 | PMID:30082313 | PMID:31308242 | PMID:35352799 |
Mybpc3 (Rattus norvegicus - Norway rat) |
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MYBPC3 (Homo sapiens - human) |
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Mybpc3 (Mus musculus - house mouse) |
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Mybpc3 (Chinchilla lanigera - long-tailed chinchilla) |
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MYBPC3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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MYBPC3 (Canis lupus familiaris - dog) |
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Mybpc3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MYBPC3 (Sus scrofa - pig) |
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MYBPC3 (Chlorocebus sabaeus - green monkey) |
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Mybpc3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Mybpc3
63 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 |
PMC181559P1 |
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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 | 17 | ||||||||||||
Medium | 26 | 3 | 8 | ||||||||||
Low | 28 | 14 | 16 | 14 | 7 | 8 | 16 | 7 | 18 | 3 | 7 | ||
Below cutoff | 2 | 12 | 10 | 3 | 10 | 1 | 2 | 11 | 23 | 13 | 1 |
RefSeq Transcripts | NM_001106490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_063283293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000016652 ⟹ ENSRNOP00000016652 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000104096 ⟹ ENSRNOP00000081300 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001106490 ⟹ NP_001099960 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_063283293 ⟹ XP_063139363 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001099960 | (Get FASTA) | NCBI Sequence Viewer |
XP_063139363 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL79508 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000016652 | ||
ENSRNOP00000016652.7 | |||
ENSRNOP00000081300.1 | |||
GenBank Protein | P56741 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001099960 ⟸ NM_001106490 |
- UniProtKB: | P56741 (UniProtKB/Swiss-Prot), A0A8L2Q868 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000016652 ⟸ ENSRNOT00000016652 |
RefSeq Acc Id: | ENSRNOP00000081300 ⟸ ENSRNOT00000104096 |
RefSeq Acc Id: | XP_063139363 ⟸ XM_063283293 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P56741-F1-model_v2 | AlphaFold | P56741 | 1-1274 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13692207 | ||||||||
Promoter ID: | EPDNEW_R2732 | ||||||||
Type: | single initiation site | ||||||||
Name: | Mybpc3_1 | ||||||||
Description: | myosin binding protein C, cardiac | ||||||||
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:1305950 | AgrOrtholog |
BioCyc Gene | G2FUF-48748 | BioCyc |
Ensembl Genes | ENSRNOG00000012307 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000016652 | ENTREZGENE |
ENSRNOT00000016652.7 | UniProtKB/TrEMBL | |
ENSRNOT00000104096.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | FN3_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FN3_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MyBP-C_THB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:295929 | UniProtKB/Swiss-Prot |
NCBI Gene | 295929 | ENTREZGENE |
PANTHER | IG-LIKE AND FIBRONECTIN TYPE-III DOMAIN-CONTAINING PROTEIN 1-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
TITIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | fn3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
THB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Mybpc3 | PhenoGen |
PROSITE | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000012307 | RatGTEx |
SMART | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IGc2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF49265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5ZRN0_RAT | UniProtKB/TrEMBL |
A0A8L2Q868 | ENTREZGENE, UniProtKB/TrEMBL | |
MYPC_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-11-11 | Mybpc3 | myosin binding protein C3 | Mybpc3 | myosin binding protein C, cardiac | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | Mybpc3 | myosin binding protein C, cardiac | Mybpc3_predicted | myosin binding protein C, cardiac (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-12 | Mybpc3_predicted | myosin binding protein C, cardiac (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |