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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 H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
H2AC12 (H2A Clustered Histone 12) is a Protein Coding gene. Diseases associated with H2AC12 include Wilson-Turner X-Linked Mental Retardation Syndrome and Dystonia 9. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is H2AC11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
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GO:0003674 | molecular_function | ND | -- |
GO:0003677 | DNA binding | IBA | 21873635 |
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 | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 20458337 |
SuperPathway | Contained pathways | ||
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1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
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2 | Chromatin organization | ||
3 | Deubiquitination |
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4 | Metabolism of proteins | ||
5 | Necroptosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IBA | 21873635 |
GO:0006342 | chromatin silencing | IBA | 21873635 |
GO:0008150 | biological_process | ND | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Calcium | Nutra | 6556 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Mouse (Mus musculus) |
Mammalia | Hist1h2ah 30 |
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H2ac12 17 |
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Dog (Canis familiaris) |
Mammalia | LOC488291 30 |
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Cow (Bos Taurus) |
Mammalia | HIST1H2AH 30 |
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Rat (Rattus norvegicus) |
Mammalia | LOC680322 30 |
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Disorder | Aliases | PubMed IDs |
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wilson-turner x-linked mental retardation syndrome |
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dystonia 9 |
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riddle syndrome |
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syndromic x-linked intellectual disability |
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syndromic intellectual disability |
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