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Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H2BC9 (H2B Clustered Histone 9) is a Protein Coding gene. Diseases associated with H2BC9 include Brachydactyly, Type C and Potocki-Shaffer Syndrome. Among its related pathways are Chromatin organization and Signaling by GPCR. An important paralog of this gene is H2BC7.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH06J026120 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 1.6 | -127.3 | -127270 | 8.5 | ARHGAP35 CEBPG SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 | H2AC6 H2BC4 piR-31751 piR-40096 piR-50446 ABT1 BTN2A2 BTN2A1 BTN2A3P HMGN4 | |
GH06J026248 | Promoter/Enhancer | 2.2 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 0.7 | +3.7 | 3698 | 13 | CEBPG SP1 GATAD2A CTCF HNRNPL TEAD4 PRDM10 IKZF1 POLR2A BACH1 | LOC105374986 ABT1 ZNF322 GUSBP2 H2AC9P H4C8 LARP1P1 BTN2A2 H4C3 ENSG00000272462 | |
GH06J026264 | Enhancer | 0.2 | Ensembl | 0.4 | +13.2 | 13187 | 0.8 | H4C8 BTN3A2 H3C8 lnc-HIST1H2BH-1 H2BC9 | ||
GH06J026266 | Enhancer | 0.2 | FANTOM5 | 0.4 | +15.0 | 15024 | 0.2 | H3C8 lnc-HIST1H2BH-1 H2BC9 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA,NAS | 9119399 |
GO:0005515 | protein binding | IPI | 26479788 |
GO:0019899 | enzyme binding | IPI | 26479788 |
GO:0044389 | ubiquitin-like protein ligase binding | IPI | 26479788 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | NAS | 9119399 |
GO:0005634 | nucleus | IEA,IDA | 16319397 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.35
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2 | DNA Double-Strand Break Repair |
.53
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3 | Cellular Senescence (REACTOME) | ||
4 | Chromosome Maintenance | ||
5 | Cell Cycle, Mitotic |
.83
|
.60
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006334 | nucleosome assembly | IBA,NAS | 9119399 |
GO:0016567 | protein ubiquitination | TAS | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | LOC463172 30 |
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Mouse (Mus musculus) |
Mammalia | Hist1h2bq 30 |
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H2bc23 17 |
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H4bc24 17 |
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Dog (Canis familiaris) |
Mammalia | LOC483164 30 |
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Rat (Rattus norvegicus) |
Mammalia | LOC100359692 30 |
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Cow (Bos Taurus) |
Mammalia | HIST2H2BF 30 |
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A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR183C 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HTB2 30 |
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K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F13310g 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G53650 30 |
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Rice (Oryza sativa) |
Liliopsida | Os01g0153100 30 |
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Bread mold (Neurospora crassa) |
Ascomycetes | NCU02435 30 |
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Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | htb1 30 |
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Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5926n100 | CNV | gain | 25217958 |
nsv1023453 | CNV | gain | 25217958 |
nsv428137 | CNV | loss | 18775914 |
nsv601173 | CNV | loss | 21841781 |
nsv981112 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
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brachydactyly, type c |
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potocki-shaffer syndrome |
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