Gene table of SH3TC2 : SH3 domain and tetratricopeptide repeats 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with SH3TC2OMIM linkNumber of associated genesgenes
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS
613353MONONEUROPATHY OF THE MEDIAN NERVE, MILDClinVar, OMIM, HUMSAVAR link to OMIM 1SH3TC2

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Annotation of the gene SH3TC2

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