CBX5 chromobox 5
Gene ID: 23468, updated on 11-Apr-2024Gene type: protein coding
Also known as: HP1; HP1A; HEL25; HP1alpha
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- Go to complete Gene record for CBX5
- Go to Variation Viewer for CBX5 variants
Summary
This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.13
- Sequence:
- Chromosome: 12; NC_000012.12 (54230942..54280122, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CBX5 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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