YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Gene ID: 7531, updated on 17-Jun-2024Gene type: protein coding
Also known as: MDS; HEL2; MDCR; KCIP-1; 14-3-3E
- See all available tests in GTR for this gene
- Go to complete Gene record for YWHAE
- Go to Variation Viewer for YWHAE variants
Summary
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2014-06-19) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 17p13.3
- Sequence:
- Chromosome: 17; NC_000017.11 (1344275..1400222, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for YWHAE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
- YWHAE database
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