Gene table of SBF2 : SET binding factor 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SBF2	OMIM link	Number of associated genes	genes
PS118220	CHARCOT-MARIE-TOOTH DISEASE	ClinVar, OMIM	link to OMIM	48	KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
phosphatidylinositol binding	GO:0035091	4.47
enzyme regulator activity	GO:0030234	2.85
phospholipid binding	GO:0005543	3.91
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
lipid binding	GO:0008289	3.26
enzyme binding	GO:0019899	2.27
Rab guanyl-nucleotide exchange factor activity	GO:0017112	6.34
phosphatase binding	GO:0019902	4.63
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
molecular function regulator	GO:0098772	2.51
phosphatase regulator activity	GO:0019208	5.26
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16