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SUMO4

Synonyms
IDDM5, SMT3H4, SUMO-4, dJ281H8.4
External resources
Summary
This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
202
Likely benign
547
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SUMO4 gene.

Phenotype class
Patients in 3billion (%)

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