MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5
Gene ID: 11183, updated on 14-Nov-2024Gene type: protein coding
Also known as: KHS; GCKR; KHS1; MAPKKKK5
Summary
This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
| Description | Tests |
|---|---|
| Common genetic variation and performance on standardized cognitive tests. GeneReviews: Not available | |
| Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. GeneReviews: Not available | |
| Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. GeneReviews: Not available |
Genomic context
- Location:
- 14q22.1
- Sequence:
- Chromosome: 14; NC_000014.9 (50418521..50561126, complement)
- Total number of exons:
- 36
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAP4K5 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
- Variation ViewerRelated Variants
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