Human Gene CBX2 (ENST00000310942.9) from GENCODE V44
Description: Homo sapiens chromobox 2 (CBX2), transcript variant 1, mRNA. (from RefSeq NM_005189) RefSeq Summary (NM_005189): 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 mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]. Gencode Transcript: ENST00000310942.9 Gencode Gene: ENSG00000173894.11 Transcript (Including UTRs) Position: hg38 chr17:79,778,148-79,787,983 Size: 9,836 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr17:79,778,236-79,785,042 Size: 6,807 Coding Exon Count: 5
ID:CBX2_HUMAN DESCRIPTION: RecName: Full=Chromobox protein homolog 2; 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 remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Involved in sexual development, acting as activator of NR5A1 expression. SUBUNIT: Component of a PRC1-like complex. INTERACTION: Q99750:MDFI; NbExp=3; IntAct=EBI-745934, EBI-724076; SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in CBX2 are the cause of 46,XY sex reversal type 5 (SRXY5) [MIM:613080]. It is a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. MISCELLANEOUS: The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nulear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1-like protein complexes. The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different complexes. SIMILARITY: Contains 1 A.T hook DNA-binding domain. SIMILARITY: Contains 1 chromo domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14781
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006325 chromatin organization GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007548 sex differentiation GO:0030154 cell differentiation GO:0045137 development of primary sexual characteristics
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