Gene table of ACTN4 : actinin alpha 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ACTN4	OMIM link	Number of associated genes	genes
PS603278	FOCAL SEGMENTAL GLOMERULOSCLEROSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	9	ACTN4, ANLN, INF2, TRPC6, PAX2, CD2AP, CRB2, MYO1E, APOL1

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Annotation of the gene ACTN4

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

O43707

Associated PDB IDs

Cytogenetic Band

19q13.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Systemic lupus erythematosus	hsa05322	5.95
Viral carcinogenesis	hsa05203	5.08
Tight junction	hsa04530	5.53
Leukocyte transendothelial migration	hsa04670	5.74
Amoebiasis	hsa05146	5.82
Focal adhesion	hsa04510	4.92
Adherens junction	hsa04520	6.26
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	hsa05412	6.32
Regulation of actin cytoskeleton	hsa04810	4.9

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Platelet degranulation	R-HSA-114608	6.68
Platelet activation, signaling and aggregation	R-HSA-76002	5.15
Response to elevated platelet cytosolic Ca2+	R-HSA-76005	6.59
Cell-Cell communication	R-HSA-1500931	5.87
Hemostasis	R-HSA-109582	3.98
Nephrin interactions	R-HSA-373753	8.46

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
chromatin DNA binding	GO:0031490	5.37
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
ion channel binding	GO:0044325	5.02
heterocyclic compound binding	GO:1901363	1.06
nucleoside binding	GO:0001882	2.21
sequence-specific DNA binding	GO:0043565	2.79
structure-specific DNA binding	GO:0043566	4.98
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
ion binding	GO:0043167	1.36
actin binding	GO:0003779	3.74
calcium ion binding	GO:0005509	3.17
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
protein complex binding	GO:0032403	3.09
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
transcription factor binding	GO:0008134	3.46
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
integrin binding	GO:0005178	5.07
cation binding	GO:0043169	1.4
regulatory region nucleic acid binding	GO:0001067	3.03
poly(A) RNA binding	GO:0044822	2.69
nuclear hormone receptor binding	GO:0035257	4.7
actin filament binding	GO:0051015	4.93
ligand-dependent nuclear receptor transcription coactivator activity	GO:0030374	5.77
small molecule binding	GO:0036094	1.89
hormone receptor binding	GO:0051427	4.57
cell adhesion molecule binding	GO:0050839	4.5
protein dimerization activity	GO:0046983	2.72
transcription regulatory region DNA binding	GO:0044212	3.03
protein N-terminus binding	GO:0047485	5.11
cytoskeletal protein binding	GO:0008092	3.02
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
retinoic acid receptor binding	GO:0042974	5.83
RNA binding	GO:0003723	2.36
receptor binding	GO:0005102	2.43
chromatin binding	GO:0003682	3.64