CBX2 (chromobox 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84733
Gene name Gene Name - the full gene name approved by the HGNC.
Chromobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CBX2
Synonyms (NCBI Gene) Gene synonyms aliases
CDCA6, M33, SRXY5
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602770 1552 ENSG00000173894
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
KEHEKEVQNRKRGKRPRGRPRKLTAMSSCSRRSKLKEPDAPSKSKSSSSSSSSTSSSSSS
DEEDDSDLDAKRGPRGRETHPVPQKKAQILVAKPELKDPIRKKRGRKPLPPEQKATRRPV
SLAKVLKTARKDLGAPASKLPPPLSAPVAGLAALKAHAKEACGGPSAMATPENLASLMKG
MASSPGRGGISWQSSIVHYMNRMTQSQAQAASRLALKAQATNKCGLGLDLKVRTQKGELG
MSPPGSKIPKAPSGGAVEQKVGNTGGPPHTHGASRVPAGCPGPQPAPTQELSLQVLDLQS
VKNGMPGVGLLARHATATKGVPATNPAPGKGTGSGLIGASGATMPTDTSKSEKLASRAVA
PPTPASKRDCVKGSATPSGQESRTAPGEARKAATLPEMSAGEESSSSDSDPDSASPPSTG
QNPSVSVQTSQDWKPTRSLIEHVFVTDVTANLITVTVKESPTSVGFFNLRHY
Sequence length 532
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
46, XY Sex Reversal 46,XY sex reversal 5 rs121908255, rs121908256 N/A
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
46, XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis N/A N/A GenCC
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease 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