Gene Gene information from NCBI Gene database.
Entrez ID 23492
Gene name Chromobox 7
Gene symbol CBX7
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q13.1
Summary This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT001104 hsa-miR-421 qRT-PCRWestern blot 19802518
MIRT006371 hsa-miR-181b-5p Luciferase reporter assay 21779448
MIRT006371 hsa-miR-181b-5p Luciferase reporter assay 21779448
MIRT006371 hsa-miR-181b-5p Luciferase reporter assay 21779448
MIRT006371 hsa-miR-181b-5p Luciferase reporter assay 21779448
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 19636380, 21282530
GO:0000785 Component Chromatin IDA 19636380
GO:0005515 Function Protein binding IPI 10369680, 17332741, 18927235, 19636380, 20543829, 20601937, 20696397, 21282530, 23523425, 24981860, 27705803, 28514442, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608457 1557 ENSG00000100307
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95931
Protein name Chromobox protein homolog 7
Protein function Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remod
PDB 2K1B , 2L12 , 2L1B , 3GS2 , 4MN3 , 5EPJ , 6V2R , 8SII
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00385 Chromo 11 60 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF17218 CBX7_C 209 240 CBX family C-terminal motif Motif
Sequence
MELSAIGEQVFAVESIRKKRVRKGKVEYLVKWKGWPPKYSTWEPEEHILDPRLVMAYEEK
EERDRASGYRKRGPKPKRLLLQRLYSMDLRSSHKAKGKEKLCFSLTCPLGSGSPEGVVKA
GAPELVDKGPLVPTLPFPLRKPRKAHKYLRLSRKKFPPRGPNLESHSHRRELFLQEPPAP
DVLQAAGEWEPAAQPPEEEADADLAEGPPPWTPALPSSEVTVTDITANSITVTFREAQAA
EGFFRDRSGKF
Sequence length 251
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Polycomb repressive complex  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
MULTIPLE MYELOMA CTD, GWAS catalog
CTD, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
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 20185297
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 20185297, 28030829
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19706751
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 19706751
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28030829
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 24260522 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 17374722
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 34008756 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25351982, 29190923
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27102007, 33400401 Associate
★☆☆☆☆
Found in Text Mining only