CDC42BPB CDC42 binding protein kinase beta
Gene ID: 9578, updated on 18-Sep-2024Gene type: protein coding
Also known as: MRCKB; CHOCNS
- See all available tests in GTR for this gene
- Go to complete Gene record for CDC42BPB
- Go to Variation Viewer for CDC42BPB variants
Summary
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chilton-Okur-Chung neurodevelopmental syndrome | not available |
| Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-10-24) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-10-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 14q32.32
- Sequence:
- Chromosome: 14; NC_000014.9 (102932380..103057549, complement)
- Total number of exons:
- 39
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CDC42BPB 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
- Variation ViewerRelated Variants
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