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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 nameGene Name - the full gene name approved by the HGNC.
Chromobox 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CBX2
SynonymsGene synonyms aliases
CDCA6, M33, SRXY5
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 21282530
GO:0000791 Component Euchromatin IEA
GO:0000792 Component Heterochromatin IBA 21873635
GO:0003677 Function DNA binding IEA
Other IDsOther 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
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
46, xy sex reversal 46, XY Sex Reversal 5 rs111033589, rs1592184934, rs121908255, rs121908256, rs606231178, rs104894956, rs104894957, rs104894958, rs104894959, rs104894964, rs606231179, rs104894966, rs104894967, rs104894968, rs104894969, rs104894965, rs104894970, rs104894974, rs104894975, rs104894976, rs104894977, rs104894971, rs104894972, rs104894973, rs121918654, rs104894119, rs104894123, rs606231205, rs104894124, rs104894125, rs104894126, rs104894120, rs606231206, rs121918655, rs121918656, rs606231207, rs1131692053, rs387906788, rs606231252, rs200834568, rs863224904, rs775441984, rs867798393, rs886041049, rs1057517779, rs1057519638, rs1057519627, rs1131692186, rs1554721235, rs1554721883, rs1554034036, rs1556370556, rs1556370576, rs1556370548, rs1556370558, rs1565573786, rs1565572949, rs1480612338, rs1579750361, rs375469069, rs1603308308, rs1588618614, rs1588621944, rs1585684790, rs1954619788, rs1384892917, rs1954336272, rs1954346640, rs1954336215 19361780
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Unknown
Disease name Disease term dbSNP ID References
46, xy complete gonadal dysgenesis 46,XY complete gonadal dysgenesis
Gonadal dysgenesis Gonadal Dysgenesis, 46,XY 19361780
Male pseudohermaphroditism Male Pseudohermaphroditism
Polycystic ovary syndrome Polycystic Ovary Syndrome

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