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Gene Information
Gene ID:4604
Symbol:MYBPC1
Full Name:myosin binding protein C, slow type
Alias:MYBPCC|MYBPCS|slow-type
Organism:Homo sapiens (Human)
Chromosome:12
Genetic Location:12q23.2
Physical Location:100512877-100603788 on NC_000012.10
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D12S346  98052454
Region:98052454-102788867
Phenotype:Alcoholism phenotype along with age, gender, and P300 or constraint
Name:15211641
Method:Linkage
Publication:Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_002465.2NP_002456.2NC_000012.10 range: 100512877..100603788
NM_206819.1NP_996555.1NC_000012.10 range: 100512877..100603788
NM_206820.1NP_996556.1NC_000012.10 range: 100512877..100603788
NM_206821.1NP_996557.1NC_000012.10 range: 100512877..100603788
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005863striated muscle thick filamentCellular ComponentIEA
GO:0030016myofibrilCellular ComponentISS (1429890)
GO:0003779actin bindingMolecular FunctionIEA
GO:0005515protein bindingMolecular FunctionIEA
GO:0008307structural constituent of muscleMolecular FunctionTAS (8375400)
GO:0031432titin bindingMolecular FunctionISS (1429890)
GO:0006941striated muscle contractionBiological ProcessIEA
GO:0007155cell adhesionBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:4604
HGNC:7549
Ensembl:ENSG00000196091
MIM:160794
HPRD:01185
HuGE Navigator:4604
dbSNP:MYBPC1
GeneCard:MYBPC1
AceView:MYBPC1