CDK13 cyclin dependent kinase 13

Gene ID: 8621, updated on 17-Jun-2024
Gene type: protein coding
Also known as: CHED; CDC2L; CDC2L5; hCDK13; CHDFIDD

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

See all available tests in GTR for this gene

Description	Tests
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MedGen: C4479246OMIM: 617360GeneReviews: CDK13-Related Disorder	See labs

Copy number response

Description
Copy number response Haploinsufficency Some evidence for dosage pathogenicity (Last evaluated 2024-03-27) ClinGen Genome Curation PagePubMed Triplosensitivity 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CDK13 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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