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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
46,XY sex reversal 5 Pathogenic rs121908255, rs121908256 RCV000007228
RCV000007229
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CBX2-related disorder Likely benign; Uncertain significance; Benign rs562593022, rs912043939, rs372276005, rs201168057, rs140909251, rs1316746534, rs544093912, rs1328403947, rs61739322, rs139048340 RCV003950938
RCV003926292
RCV003961258
RCV003400490
RCV003947392
RCV003907282
RCV003959043
RCV003924696
RCV003983311
RCV003967974
Disorder of sexual differentiation Uncertain significance rs781881482, rs1906989698 RCV001572624
RCV001290319
Pure gonadal dysgenesis 46,XY Uncertain significance rs201168057 RCV005356419
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30820027, 33082469, 33400401, 38030604
Calcinosis Cutis Associate 24885002
Carcinoma Hepatocellular Associate 30481161, 31211140, 31321712, 34925377, 36133439, 36566204, 37980163, 39223584
Colorectal Neoplasms Associate 32323816
Death Associate 31321712
Disorder of Sex Development 46 XY Associate 29998616
Esophageal Squamous Cell Carcinoma Associate 32576584
Glioblastoma Stimulate 35210369
Hypospadias Associate 29998616
Hypoxia Associate 37481543