Gene Gene information from NCBI Gene database.
Entrez ID 84733
Gene name Chromobox 2
Gene symbol CBX2
Synonyms (NCBI Gene)
CDCA6M33SRXY5
Chromosome 17
Chromosome location 17q25.3
Summary This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121908255 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs121908256 G>A,C Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
911
miRTarBase ID miRNA Experiments Reference
MIRT023121 hsa-miR-124-3p Microarray 18668037
MIRT024030 hsa-miR-1-3p Microarray 18668037
MIRT049303 hsa-miR-92a-3p CLASH 23622248
MIRT049303 hsa-miR-92a-3p CLASH 23622248
MIRT046777 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 21282530
GO:0000791 Component Euchromatin IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602770 1552 ENSG00000173894
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14781
Protein name Chromobox protein homolog 2
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 (PubMed:21282530). PcG PRC1 complex acts v
PDB 2D9U , 3H91 , 5EPK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00385 Chromo 12 61 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF17218 CBX7_C 491 523 CBX family C-terminal motif Motif
Sequence
MEELSSVGEQVFAAECILSKRLRKGKLEYLVKWRGWSSKHNSWEPEENILDPRLLLAFQK
K
EHEKEVQNRKRGKRPRGRPRKLTAMSSCSRRSKLKEPDAPSKSKSSSSSSSSTSSSSSS
DEEDDSDLDAKRGPRGRETHPVPQKKAQILVAKPELKDPIRKKRGRKPLPPEQKATRRPV
SLAKVLKTARKDLGAPASKLPPPLSAPVAGLAALKAHAKEACGGPSAMATPENLASLMKG
MASSPGRGGISWQSSIVHYMNRMTQSQAQAASRLALKAQATNKCGLGLDLKVRTQKGELG
MSPPGSKIPKAPSGGAVEQKVGNTGGPPHTHGASRVPAGCPGPQPAPTQELSLQVLDLQS
VKNGMPGVGLLARHATATKGVPATNPAPGKGTGSGLIGASGATMPTDTSKSEKLASRAVA
PPTPASKRDCVKGSATPSGQESRTAPGEARKAATLPEMSAGEESSSSDSDPDSASPPSTG
QNPSVSVQTSQDWKPTRSLIEHVFVTDVTANLITVTVKESPTSVGFFNLRHY
Sequence length 532
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex   Oxidative Stress Induced Senescence
SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription cofactors
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Regulation of PTEN gene transcription
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XY sex reversal 5 Pathogenic rs121908255, rs121908256 RCV000007228
RCV000007229
★★★★☆
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
46,XY COMPLETE GONADAL DYSGENESIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CBX2-related disorder Likely benign; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pure gonadal dysgenesis 46,XY Uncertain significance ClinVar
★★☆☆☆
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
46, XY Disorders of Sex Development 46, XY disorder of sex development BEFREE 29998616
★☆☆☆☆
Found in Text Mining only
46, XY Sex Reversal 5 46, XY Sex Reversal UNIPROT_DG 19361780
★☆☆☆☆
Found in Text Mining only
46, XY Sex Reversal 5 46, XY Sex Reversal GENOMICS_ENGLAND_DG 19361780
★☆☆☆☆
Found in Text Mining only
46, XY Sex Reversal 5 46, XY Sex Reversal CTD_human_DG
★☆☆☆☆
Found in Text Mining only
46,XY complete gonadal dysgenesis 46, XY complete gonadal dysgenesis Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 28454227, 29190923, 30820027, 30972192
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30820027, 33082469, 33400401, 38030604 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30481161, 31211140, 31321712, 34925377, 36133439, 36566204, 37980163, 39223584 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30478317
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32323816 Associate
★☆☆☆☆
Found in Text Mining only