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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 small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2BC13 (H2B Clustered Histone 13) is a Protein Coding gene. Diseases associated with H2BC13 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 H2BC7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA,NAS | 9439656 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | NAS | 9439656 |
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
|
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 | 9439656 |
GO:0016567 | protein ubiquitination | TAS | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC471902 30 |
|
||
-- 31 |
|
ManyToMany | |||
Mouse (Mus musculus) |
Mammalia | Hist1h2be 31 |
|
ManyToMany | |
Hist1h2bj 30 |
|
||||
H2bc11 17 |
|
||||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
LOC611465 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
LOC100295221 30 |
|
||||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs200484 | - | p.Leu4Pro |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3890803 | CNV | loss | 25118596 |
nsv1017057 | CNV | gain | 25217958 |
nsv830618 | CNV | gain | 17160897 |
nsv969366 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alpha-thalassemia/mental retardation syndrome, x-linked |
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