CUL3 cullin 3
Gene ID: 8452, updated on 5-Mar-2024Gene type: protein coding
Also known as: CUL-3; PHA2E; NEDAUS
- See all available tests in GTR for this gene
- Go to complete Gene record for CUL3
- Go to Variation Viewer for CUL3 variants
Summary
This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
Neurodevelopmental disorder with or without autism or seizures | See labs |
Pseudohypoaldosteronism type 2E | See labs |
Pseudohypoaldosteronism, type 2 MedGen: C1449844GeneReviews: Pseudohypoaldosteronism Type II | not available |
Genomic context
- Location:
- 2q36.2
- Sequence:
- Chromosome: 2; NC_000002.12 (224470150..224585363, complement)
- Total number of exons:
- 20
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for CUL3 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.