Gene table of ACTA2 : actin, alpha 2, smooth muscle, aorta

Gene-disease associations table

Disease IDDisease nameSource of annotation with ACTA2OMIM linkNumber of associated genesgenes
613834MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1ACTA2
PS252350MOYAMOYA DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 3RNF213, GUCY1A3, ACTA2
PS607086AORTIC ANEURYSM, FAMILIAL THORACICClinVar, OMIM, HUMSAVAR link to OMIM 7TGFBR2, ACTA2, TGFBR1, MYH11, MYLK, PRKG1, MFAP5

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Annotation of the gene ACTA2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Vascular smooth muscle contractionhsa042705.74
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Muscle contractionR-HSA-3970146.96
Smooth Muscle ContractionR-HSA-4453558.23
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
enzyme bindingGO:00198992.27
bindingGO:00054880.18
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
nucleotide bindingGO:00001661.96
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
small molecule bindingGO:00360941.89
kinase bindingGO:00199003.32
protein kinase bindingGO:00199013.44
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
adenyl ribonucleotide bindingGO:00325592.41
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19