MAP2K5 mitogen-activated protein kinase kinase 5
Gene ID: 5607, updated on 14-Nov-2024Gene type: protein coding
Also known as: MEK5; MAPKK5; PRKMK5; HsT17454
- See all available tests in GTR for this gene
- Go to complete Gene record for MAP2K5
- Go to Variation Viewer for MAP2K5 variants
Summary
The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. GeneReviews: Not available | |
| Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. GeneReviews: Not available | |
| Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Meta-analysis identifies common variants associated with body mass index in east Asians. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available |
Genomic context
- Location:
- 15q23
- Sequence:
- Chromosome: 15; NC_000015.10 (67542703..67807114)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAP2K5 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
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