|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:CMH1
gptkb:MPD1
gptkb:MYH7B
gptkb:MYHCB
gptkb:MYHCI
|
|
gptkbp:associatedWith
|
gptkb:dilated_cardiomyopathy
gptkb:Laing_distal_myopathy
gptkb:familial_hypertrophic_cardiomyopathy
gptkb:myosin_storage_myopathy
|
|
gptkbp:clinical_testing
|
available
|
|
gptkbp:discoveredBy
|
Seidman JG et al.
|
|
gptkbp:discoveredIn
|
1985
|
|
gptkbp:encodes
|
gptkb:beta-myosin_heavy_chain
|
|
gptkbp:Entrez_Gene_ID
|
4625
ENSG00000092054
GC07P12883
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
cardiac muscle
|
|
gptkbp:fullName
|
gptkb:myosin_heavy_chain_7
|
|
gptkbp:function
|
motor protein involved in muscle contraction
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_component
|
A band
sarcomere
myofibril
|
|
gptkbp:GO_function
|
ATP binding
actin binding
structural constituent of muscle
|
|
gptkbp:GOProcess
|
muscle contraction
cardiac muscle contraction
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:7577
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MYH7 (human)
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
1935
|
|
gptkbp:locatedOnChromosome
|
14
14q11.2
|
|
gptkbp:molecularWeight
|
223 kDa
|
|
gptkbp:mutationAssociatedWith
|
cardiomyopathy
|
|
gptkbp:OMIM
|
160760
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Myh7
|
|
gptkbp:PDB
|
5TBY
|
|
gptkbp:product
|
gptkb:Myosin-7
|
|
gptkbp:RefSeq
|
gptkb:NM_000257
gptkb:NP_000248
|
|
gptkbp:UniProtID
|
P12883
|
|
gptkbp:bfsParent
|
gptkb:WBGene00002992
|
|
gptkbp:bfsLayer
|
6
|