|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:SMHC
FAA4
SMMHC
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
familial aortic aneurysm
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
|
gptkbp:biologicalProcess
|
smooth muscle contraction
|
|
gptkbp:encodes
|
myosin-11 protein
|
|
gptkbp:Entrez_Gene_ID
|
4629
|
|
gptkbp:expressedIn
|
smooth muscle cells
|
|
gptkbp:fullName
|
myosin heavy chain 11
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7577
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MYH11
|
|
gptkbp:locatedOnChromosome
|
16p13.11
|
|
gptkbp:mutationAssociatedWith
|
deletion
missense
splice site
|
|
gptkbp:OMIM
|
160745
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Myh11
|
|
gptkbp:pathway
|
muscle contraction
smooth muscle contraction
|
|
gptkbp:proteinFamily
|
myosin heavy chain family
|
|
gptkbp:translocationPartner
|
CBFB
inv(16)(p13q22)
|
|
gptkbp:UniProtID
|
P35749
|
|
gptkbp:bfsParent
|
gptkb:PPP1R12A
gptkb:chromosome_16_(human)
gptkb:chromosome_16
gptkb:chromosome_16p13.3
gptkb:16p13.13
|
|
gptkbp:bfsLayer
|
7
|