CDK13 cyclin dependent kinase 13
Gene ID: 8621, updated on 7-Apr-2024Gene type: protein coding
Also known as: CHED; CDC2L; CDC2L5; hCDK13; CHDFIDD
- See all available tests in GTR for this gene
- Go to complete Gene record for CDK13
- Go to Variation Viewer for CDK13 variants
Summary
The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]
Associated conditions
Copy number response
Description |
---|
Copy number response Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2024-03-27) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2024-03-27) ClinGen Genome Curation Page |
Genomic context
- Location:
- 7p14.1
- Sequence:
- Chromosome: 7; NC_000007.14 (39950256..40099580)
- Total number of exons:
- 16
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for CDK13 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
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