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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 H4 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]
H4C2 (H4 Clustered Histone 2) is a Protein Coding gene. Diseases associated with H4C2 include Hyperinsulinemic Hypoglycemia, Familial, 2 and Hyperinsulinemic Hypoglycemia, Familial, 1. Among its related pathways are Chromatin organization and Signaling by GPCR. An important paralog of this gene is H4C5.
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 | 600.7 | +1.8 | 1843 | 20.5 | ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 | H4C2 ABT1 BTN2A2 BTN2A1 HMGN4 BTN2A3P ZNF322 ENSG00000272462 GUSBP2 BTN3A2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IBA,TAS | 3035717 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 9540062 |
GO:0019904 | protein domain specific binding | IPI | 22368283 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000228 | nuclear chromosome | IDA | 14718166 |
GO:0000784 | nuclear chromosome, telomeric region | HDA | 19135898 |
GO:0000786 | nucleosome | TAS | 3035717 |
GO:0000788 | nuclear nucleosome | IDA | 20498094 |
GO:0005576 | extracellular region | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
.88
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.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:0000183 | chromatin silencing at rDNA | TAS | -- |
GO:0006303 | double-strand break repair via nonhomologous end joining | TAS | -- |
GO:0006334 | nucleosome assembly | IBA,IDA | 20498094 |
GO:0006335 | DNA replication-dependent nucleosome assembly | IDA | 14718166 |
GO:0006336 | DNA replication-independent nucleosome assembly | IDA | 14718166 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC462507 30 |
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Rat (Rattus norvegicus) |
Mammalia | Hist2h4 30 |
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Mouse (Mus musculus) |
Mammalia | Hist4h4 30 |
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H4f16 17 |
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Cow (Bos Taurus) |
Mammalia | LOC529647 30 |
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Chicken (Gallus gallus) |
Aves | HIST1H46L3 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496758 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | LOC100332668 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | His4:CG33871 30 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HHF1 33 |
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HHF2 33 |
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SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708918 | Benign: not provided | 26,026,986(-) | G/A | SYNONYMOUS_VARIANT | |
713788 | Benign: not provided | 26,027,058(-) | G/A | SYNONYMOUS_VARIANT | |
722838 | Benign: not provided | 26,027,247(-) | A/T | SYNONYMOUS_VARIANT | |
755407 | Likely Benign: not provided | 26,027,154(-) | C/T | SYNONYMOUS_VARIANT | |
775231 | Benign: not provided | 26,026,974(-) | A/C | SYNONYMOUS_VARIANT |
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 |
---|---|---|
hyperinsulinemic hypoglycemia, familial, 2 |
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hyperinsulinemic hypoglycemia, familial, 1 |
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hyperoxaluria, primary, type i |
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meier-gorlin syndrome 1 |
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carbohydrate metabolic disorder |
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