CBX5 (chromobox 5)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23468
Gene name Gene Name - the full gene name approved by the HGNC.
Chromobox 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CBX5
Synonyms (NCBI Gene) Gene synonyms aliases
HEL25, HP1, HP1A, HP1alpha
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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 bi
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3341)
miRTarBase ID miRNA Experiments Reference
MIRT004950 hsa-miR-98-5p qRT-PCR 17942906
MIRT023531 hsa-miR-1-3p Proteomics 18668040
MIRT052318 hsa-let-7b-5p CLASH 23622248
MIRT051655 hsa-let-7e-5p CLASH 23622248
MIRT049796 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
YY1 Unknown 19566924
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(52)
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IEA
GO:0000118 Component Histone deacetylase complex ISS
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19617346
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604478 1555 ENSG00000094916
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P45973
Protein name Chromobox protein homolog 5 (Antigen p25) (Heterochromatin protein 1 homolog alpha) (HP1 alpha)
Protein function Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph) (PubMed:
PDB 3FDT , 3I3C , 8UXQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00385 Chromo 20 → 69 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF01393 Chromo_shadow 122 → 174 Chromo shadow domain Domain
Sequence 
MGKKTKRTADSSSSEDEEEYVVEKVLDRRVVKGQVEYLLKWKGFSEEHNTWEPEKNLDCP
ELISEFMKKYKKMKEGENNKPREKSESNKRKSNFSNSADDIKSKKKREQSNDIARGFERG
LEPEKIIGATDSCGDLMFLMKWKDTDEADLVLAKEANVKCPQIVIAFYEERLTWHAYPED
AENKEKETAKS
Sequence length 191
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Transcriptional Regulation by E2F6
Factors involved in megakaryocyte development and platelet production
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (49)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Chest Syndrome Associate 36006620
Alternating hemiplegia of childhood Associate 19468068
Arterial Occlusive Diseases Associate 36006620
ATR X syndrome Associate 39862081
Brain Neoplasms Associate 28946550
Breast Neoplasms Associate 16051232, 21281799, 26791953, 27107417, 31253870, 33099470, 34087208
Breast Neoplasms Inhibit 16648629, 19566924
Calcinosis Cutis Inhibit 24840329
Carcinogenesis Associate 35249038
Carcinoma Renal Cell Associate 33185692, 35249038