Gene Gene information from NCBI Gene database.
Entrez ID 23468
Gene name Chromobox 5
Gene symbol CBX5
Synonyms (NCBI Gene)
HEL25HP1HP1AHP1alpha
Chromosome 12
Chromosome location 12q13.13
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 bi
miRNA miRNA information provided by mirtarbase database.
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 Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Unknown 19566924
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604478 1555 ENSG00000094916
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ELISEFMKK
YKKMKEGENNKPREKSESNKRKSNFSNSADDIKSKKKREQSNDIARGFERG
LEPEKIIGATDSCGDLMFLMKWKDTDEADLVLAKEANVKCPQIVIAFYEERLTWHAYPED
AENKEKETAKS
Sequence length 191
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Transcriptional Regulation by E2F6
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 29487201
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 19468068 Associate
★☆☆☆☆
Found in Text Mining only
Arterial Occlusive Diseases Arterial occlusive disease Pubtator 36006620 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30703483
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 28623138, 28946550
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 28946550 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25588111, 26791953, 27107417
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16051232, 21281799, 26791953, 27107417, 31253870, 33099470, 34087208 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16648629, 19566924 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35249038 Associate
★☆☆☆☆
Found in Text Mining only