SUMO4 small ubiquitin like modifier 4
Gene ID: 387082, updated on 4-Jan-2025Gene type: protein coding
Also known as: IDDM5; SMT3H4; SUMO-4; dJ281H8.4
- See all available tests in GTR for this gene
- Go to complete Gene record for SUMO4
- Go to Variation Viewer for SUMO4 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Type 1 diabetes mellitus 5 | See labs |
Genomic context
- Location:
- 6q25.1
- Sequence:
- Chromosome: 6; NC_000006.12 (149400262..149401278)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SUMO4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SUMO4 database
- Variation ViewerRelated Variants
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