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Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC4 (H2A Clustered Histone 4) is a Protein Coding gene. Diseases associated with H2AC4 include Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked. Among its related pathways are Chromatin organization and Signaling by GPCR. An important paralog of this gene is H2AC8.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH06J026015 | Promoter/Enhancer | 2.7 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 0.4 | +8.2 | 8178 | 20.5 | ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 | H4C2 ABT1 BTN2A2 BTN2A1 HMGN4 BTN2A3P ZNF322 ENSG00000272462 GUSBP2 BTN3A2 | |
GH06J026037 | Enhancer | 0.4 | Ensembl dbSUPER | 0.7 | -4.4 | -4383 | 0.8 | TRIM24 | ENSG00000272462 H2AC4 H2BC3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA,NAS | 6647026 |
GO:0005515 | protein binding | IPI | 20498094 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | IEA | -- |
GO:0000790 | nuclear chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA,IDA | 16319397 |
GO:0005694 | chromosome | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 19199708 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
|
.35
|
2 | Cellular Senescence (REACTOME) | ||
3 | Chromosome Maintenance | ||
4 | Cell Cycle, Mitotic |
.83
|
.60
|
5 | Chromatin organization |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IBA | 21873635 |
GO:0006342 | chromatin silencing | IBA | 21873635 |
GO:0008285 | negative regulation of cell proliferation | IMP | 23956221 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Mouse (Mus musculus) |
Mammalia | Hist1h2ag 30 |
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H2ac11 17 |
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Cow (Bos Taurus) |
Mammalia | LOC524236 30 |
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Chimpanzee (Pan troglodytes) |
Mammalia | LOC471884 30 |
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Rat (Rattus norvegicus) |
Mammalia | Hist1h2ak 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5926n100 | CNV | gain | 25217958 |
esv3608392 | CNV | gain | 21293372 |
nsv1023453 | CNV | gain | 25217958 |
nsv1026692 | CNV | loss | 25217958 |
nsv428137 | CNV | loss | 18775914 |
nsv509122 | CNV | insertion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alpha-thalassemia/mental retardation syndrome, x-linked |
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