H3C12 Gene (Protein Coding)

H3 Clustered Histone 12

GC06M028369
GIFtS:
29
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 ... See more...

Aliases for H3C12 Gene

Aliases for H3C12 Gene

  • H3 Clustered Histone 12 2 3 5
  • Histone Cluster 1 H3 Family Member J 2 3
  • H3 Histone Family, Member J 2 3
  • Histone Cluster 1, H3j 2 3
  • Histone 1, H3j 2 3
  • Histone H3.1 3 4
  • Histone H3/J 3 4
  • HIST1H3J 3 4
  • H3/J 2 3
  • H3FJ 3 4
  • H3FC HIST1H3C 4
  • Histone H3/A 4
  • Histone H3/B 4
  • Histone H3/C 4
  • Histone H3/D 4
  • Histone H3/F 4
  • Histone H3/H 4
  • Histone H3/I 4
  • Histone H3/K 4
  • Histone H3/L 4
  • HIST1H3A 4
  • HIST1H3B 4
  • HIST1H3D 4
  • HIST1H3E 4
  • HIST1H3F 4
  • HIST1H3G 4
  • HIST1H3H 4
  • HIST1H3I 4
  • H3C10 3
  • H3C11 3
  • H3C12 5
  • H3C1 3
  • H3C2 3
  • H3C3 3
  • H3C4 3
  • H3C6 3
  • H3C7 3
  • H3C8 3
  • H3FA 4
  • H3FL 4
  • H3FB 4
  • H3FD 4
  • H3FI 4
  • H3FH 4
  • H3FK 4
  • H3FF 4

External Ids for H3C12 Gene

Previous HGNC Symbols for H3C12 Gene

  • H3FJ
  • HIST1H3J

Previous GeneCards Identifiers for H3C12 Gene

  • GC06M028225
  • GC06M028290

Summaries for H3C12 Gene

Entrez Gene Summary for H3C12 Gene

  • 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 H3 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]

GeneCards Summary for H3C12 Gene

H3C12 (H3 Clustered Histone 12) is a Protein Coding gene. Diseases associated with H3C12 include Adult Infiltrating Astrocytic Neoplasm and Childhood Brain Stem Glioma. Among its related pathways are Chromatin organization and Transcriptional misregulation in cancer. An important paralog of this gene is H3C4.

UniProtKB/Swiss-Prot Summary for H3C12 Gene

  • Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

Gene Wiki entry for H3C12 Gene

Additional gene information for H3C12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for H3C12 Gene

Genomics for H3C12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for H3C12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around H3C12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for H3C12

Genomic Locations for H3C12 Gene

Genomic Locations for H3C12 Gene
chr6:27,890,315-27,893,106
(GRCh38/hg38)
Size:
2,792 bases
Orientation:
Minus strand
chr6:27,858,093-27,860,884
(GRCh37/hg19)
Size:
2,792 bases
Orientation:
Minus strand

Genomic View for H3C12 Gene

Genes around H3C12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
H3C12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for H3C12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for H3C12 Gene

Proteins for H3C12 Gene

Products:

  1. Antibody
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  • Protein details for H3C12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68431-H31_HUMAN
    Recommended name:
    Histone H3.1
    Protein Accession:
    P68431
    Secondary Accessions:
    • A0PJT7
    • A5PLR1
    • P02295
    • P02296
    • P16106
    • Q6ISV8
    • Q6NWP8
    • Q6NWP9
    • Q6NXU4
    • Q71DJ3
    • Q93081

    Protein attributes for H3C12 Gene

    Size:
    136 amino acids
    Molecular mass:
    15404 Da
    Quaternary structure:
    • The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA.
    Miscellaneous:
    • This histone is only present in mammals and is enriched in acetylation of Lys-15 and dimethylation of Lys-10 (H3K9me2).

    Three dimensional structures from OCA and Proteopedia for H3C12 Gene

neXtProt entry for H3C12 Gene

Post-translational modifications for H3C12 Gene

  • Acetylation is generally linked to gene activation. Acetylation on Lys-10 (H3K9ac) impairs methylation at Arg-9 (H3R8me2s). Acetylation on Lys-19 (H3K18ac) and Lys-24 (H3K24ac) favors methylation at Arg-18 (H3R17me). Acetylation at Lys-123 (H3K122ac) by EP300/p300 plays a central role in chromatin structure: localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability.
  • Citrullination at Arg-9 (H3R8ci) and/or Arg-18 (H3R17ci) by PADI4 impairs methylation and represses transcription.
  • Asymmetric dimethylation at Arg-18 (H3R17me2a) by CARM1 is linked to gene activation. Symmetric dimethylation at Arg-9 (H3R8me2s) by PRMT5 is linked to gene repression. Asymmetric dimethylation at Arg-3 (H3R2me2a) by PRMT6 is linked to gene repression and is mutually exclusive with H3 Lys-5 methylation (H3K4me2 and H3K4me3). H3R2me2a is present at the 3' of genes regardless of their transcription state and is enriched on inactive promoters, while it is absent on active promoters.
  • Methylation at Lys-5 (H3K4me), Lys-37 (H3K36me) and Lys-80 (H3K79me) are linked to gene activation. Methylation at Lys-5 (H3K4me) facilitates subsequent acetylation of H3 and H4. Methylation at Lys-80 (H3K79me) is associated with DNA double-strand break (DSB) responses and is a specific target for TP53BP1. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are linked to gene repression. Methylation at Lys-10 (H3K9me) is a specific target for HP1 proteins (CBX1, CBX3 and CBX5) and prevents subsequent phosphorylation at Ser-11 (H3S10ph) and acetylation of H3 and H4. Methylation at Lys-5 (H3K4me) and Lys-80 (H3K79me) require preliminary monoubiquitination of H2B at 'Lys-120'. Methylation at Lys-10 (H3K9me) and Lys-28 (H3K27me) are enriched in inactive X chromosome chromatin. Monomethylation at Lys-57 (H3K56me1) by EHMT2/G9A in G1 phase promotes interaction with PCNA and is required for DNA replication.
  • Phosphorylated at Thr-4 (H3T3ph) by HASPIN during prophase and dephosphorylated during anaphase. Phosphorylation at Ser-11 (H3S10ph) by AURKB is crucial for chromosome condensation and cell-cycle progression during mitosis and meiosis. In addition phosphorylation at Ser-11 (H3S10ph) by RPS6KA4 and RPS6KA5 is important during interphase because it enables the transcription of genes following external stimulation, like mitogens, stress, growth factors or UV irradiation and result in the activation of genes, such as c-fos and c-jun. Phosphorylation at Ser-11 (H3S10ph), which is linked to gene activation, prevents methylation at Lys-10 (H3K9me) but facilitates acetylation of H3 and H4. Phosphorylation at Ser-11 (H3S10ph) by AURKB mediates the dissociation of HP1 proteins (CBX1, CBX3 and CBX5) from heterochromatin. Phosphorylation at Ser-11 (H3S10ph) is also an essential regulatory mechanism for neoplastic cell transformation. Phosphorylated at Ser-29 (H3S28ph) by MAP3K20 isoform 1, RPS6KA5 or AURKB during mitosis or upon ultraviolet B irradiation. Phosphorylation at Thr-7 (H3T6ph) by PRKCB is a specific tag for epigenetic transcriptional activation that prevents demethylation of Lys-5 (H3K4me) by LSD1/KDM1A. At centromeres, specifically phosphorylated at Thr-12 (H3T11ph) from prophase to early anaphase, by DAPK3 and PKN1. Phosphorylation at Thr-12 (H3T11ph) by PKN1 is a specific tag for epigenetic transcriptional activation that promotes demethylation of Lys-10 (H3K9me) by KDM4C/JMJD2C. Phosphorylation at Thr-12 (H3T11ph) by chromatin-associated CHEK1 regulates the transcription of cell cycle regulatory genes by modulating acetylation of Lys-10 (H3K9ac). Phosphorylation at Tyr-42 (H3Y41ph) by JAK2 promotes exclusion of CBX5 (HP1 alpha) from chromatin.
  • Monoubiquitinated by RAG1 in lymphoid cells, monoubiquitination is required for V(D)J recombination (By similarity). Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins.
  • Lysine deamination at Lys-5 (H3K4all) to form allysine is mediated by LOXL2. Allysine formation by LOXL2 only takes place on H3K4me3 and results in gene repression.
  • Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes.
  • Butyrylation of histones marks active promoters and competes with histone acetylation. It is present during late spermatogenesis.
  • Succinylation at Lys-80 (H3K79succ) by KAT2A takes place with a maximum frequency around the transcription start sites of genes (PubMed:29211711). It gives a specific tag for epigenetic transcription activation (PubMed:29211711). Desuccinylation at Lys-123 (H3K122succ) by SIRT7 in response to DNA damage promotes chromatin condensation and double-strand breaks (DSBs) repair (PubMed:27436229).
  • Serine ADP-ribosylation constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:30257210). Serine ADP-ribosylation at Ser-11 (H3S10ADPr) is mutually exclusive with phosphorylation at Ser-11 (H3S10ph) and impairs acetylation at Lys-10 (H3K9ac) (PubMed:30257210).
  • Ubiquitination at Lys116
  • Modification sites at PhosphoSitePlus

Other Protein References for H3C12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for H3C12 Gene

Domains & Families for H3C12 Gene

Gene Families for H3C12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for H3C12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for H3C12 Gene

GenScript: Design optimal peptide antigens:
  • Histone H3/l (H31_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P68431

UniProtKB/Swiss-Prot:

H31_HUMAN :
  • Belongs to the histone H3 family.
Family:
  • Belongs to the histone H3 family.
genes like me logo Genes that share domains with H3C12: view

Function for H3C12 Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for H3C12 Gene

UniProtKB/Swiss-Prot Function:
Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.

Phenotypes From GWAS Catalog for H3C12 Gene

Gene Ontology (GO) - Molecular Function for H3C12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 10949293
GO:0045296 cadherin binding HDA 25468996
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with H3C12: view
genes like me logo Genes that share phenotypes with H3C12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for H3C12 Gene

Localization for H3C12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for H3C12 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for H3C12 gene
Compartment Confidence
nucleus 5
extracellular 4
cytoskeleton 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for H3C12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 14718166
GO:0000786 nucleosome IDA 21636898
GO:0000788 nuclear nucleosome IDA 20498094
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IBA,IDA 21636898
genes like me logo Genes that share ontologies with H3C12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for H3C12 Gene

Pathways & Interactions for H3C12 Gene

PathCards logo

SuperPathways for H3C12 Gene

SuperPathway Contained pathways
1 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
DNA methylation
.88
RNA Polymerase I Promoter Opening
.88
B-WICH complex positively regulates rRNA expression
.86
Positive epigenetic regulation of rRNA expression
.86
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
.86
SIRT1 negatively regulates rRNA Expression
.84
NoRC negatively regulates rRNA expression
.83
RNA Polymerase I Chain Elongation
.83
PRC2 methylates histones and DNA
.83
RNA Polymerase I Transcription
.81
Negative epigenetic regulation of rRNA expression
.81
RNA Polymerase I Promoter Clearance
.81
Condensation of Prophase Chromosomes
.78
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
.76
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
.75
Epigenetic regulation of gene expression
.73
RHO GTPases activate PKNs
.72
Formation of the beta-catenin-TCF transactivating complex
.64
HDACs deacetylate histones
.60
Amyloid fiber formation
.55
Activation of anterior HOX genes in hindbrain development during early embryogenesis
.50
Activation of HOX genes during differentiation
.50
Systemic lupus erythematosus
.43
RMTs methylate histone arginines
.39
Alcoholism
.35
HDMs demethylate histones
.32
2 Cellular Senescence (REACTOME)
Cellular Senescence
.64
Oxidative Stress Induced Senescence
.64
Senescence-Associated Secretory Phenotype (SASP)
.56
Cellular responses to stress
.44
3 Cell Cycle, Mitotic
Cell Cycle
.83
Cell Cycle, Mitotic
.83
M Phase
.60
4 Chromatin organization
Chromatin modifying enzymes
.51
Chromatin organization
.51
HATs acetylate histones
.51
5 Mitotic Prophase
Gene Silencing by RNA
.78
Transcriptional regulation by small RNAs
.78
Mitotic Prophase
.57
genes like me logo Genes that share pathways with H3C12: view

Pathways by source for H3C12 Gene

1 BioSystems pathway for H3C12 Gene
8 Qiagen pathways for H3C12 Gene
  • Crosstalk Between CARM1 and ESRs
  • ERK Signaling
  • Interferon Pathway
  • MAPK Family Pathway
  • Nuclear Receptor Activation by Vitamin-A

Gene Ontology (GO) - Biological Process for H3C12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000183 chromatin silencing at rDNA TAS --
GO:0006325 chromatin organization TAS --
GO:0006334 nucleosome assembly IMP 25615412
GO:0006335 DNA replication-dependent nucleosome assembly IDA 14718166
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with H3C12: view

No data available for SIGNOR curated interactions for H3C12 Gene

Drugs & Compounds for H3C12 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for H3C12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for H3C12 Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for H3C12

Alternative Splicing Database (ASD) splice patterns (SP) for H3C12 Gene

No ASD Table

Relevant External Links for H3C12 Gene

GeneLoc Exon Structure for
H3C12

Expression for H3C12 Gene

Products:

  1. Primer

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for H3C12

SOURCE GeneReport for Unigene cluster for H3C12 Gene:

Hs.484990

Evidence on tissue expression from TISSUES for H3C12 Gene

  • Nervous system(4.5)
  • Blood(4.4)
  • Spleen(4.4)
  • Stomach(4.1)
  • Intestine(2.4)
  • Lung(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for H3C12 Gene

Orthologs for H3C12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for H3C12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HIST1H3J 31
  • 100 (a)
 OneToOne
LOC471875 30
  • 83.82 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 94 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia LOC540148 30
  • 86.03 (n)
Dog
(Canis familiaris)
 Mammalia LOC488277 30
  • 85.29 (n)
Mouse
(Mus musculus)
 Mammalia Hist1h3g 30
  • 85.05 (n)
H3c8 17
Rat
(Rattus norvegicus)
 Mammalia LOC680498 30
  • 85.05 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 96 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101732029 30
  • 81.13 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100004914 30
  • 80.74 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta His3:CG33830 30
  • 79.9 (n)
Worm
(Caenorhabditis elegans)
 Secernentea his-2 30
  • 77.21 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CSE4 33
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G40030 30
  • 74.02 (n)
Rice
(Oryza sativa)
 Liliopsida Os06g0130900 30
  • 80.88 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 93 (a)
 ManyToMany
-- 31
  • 93 (a)
 ManyToMany
Species where no ortholog for H3C12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for H3C12 Gene

ENSEMBL:
Gene Tree for H3C12 (if available)
TreeFam:
Gene Tree for H3C12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for H3C12: view image

Paralogs for H3C12 Gene

Paralogs for H3C12 Gene

Pseudogenes.org Pseudogenes for H3C12 Gene

genes like me logo Genes that share paralogs with H3C12: view

Variants for H3C12 Gene

Additional dbSNP identifiers (rs#s) for H3C12 Gene

Structural Variations from Database of Genomic Variants (DGV) for H3C12 Gene

Variant ID Type Subtype PubMed ID
nsv601208 CNV loss 21841781
nsv601209 CNV loss 21841781

Variation tolerance for H3C12 Gene

Residual Variation Intolerance Score: 36.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for H3C12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
H3C12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for H3C12 Gene

Disorders for H3C12 Gene

MalaCards: The human disease database

(9) MalaCards diseases for H3C12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
adult infiltrating astrocytic neoplasm
  • adult infiltrating astrocytic tumor
childhood brain stem glioma
  • pediatric glioma of the brainstem
brain stem cancer
  • malignant neoplasm of brain stem
brain stem glioma
  • brainstem neuroglial tumor
tonsil squamous cell carcinoma
  • tonsillar squamous cell carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search H3C12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

H31_HUMAN
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:22286216}. Note=The gene represented in this entry is involved in disease pathogenesis. HIST1H3B mutations affecting residue Lys-28 involved in post-translational modifications of histone H3.1 are recurrent in malignant, aggressive gliomas including pediatric non-brain stem glioblastoma and diffuse intrinsic pontine glioma (DIPG) (PubMed:22286216). The mechanism through which mutations lead to tumorigenesis involves altered histone methylation, impaired regulation of Polycomb repressive complex 2 (PRC2) activity, and aberrant epigenetic regulation of gene expression (PubMed:23603901). {ECO:0000269 PubMed:22286216, ECO:0000269 PubMed:23603901}.
  • Note=HIST1H3B or HIST1H3C mutations affecting residue Lys-37 of histone H3.1 are involved in the pathogenesis of pediatric undifferentiated soft tissue sarcomas. The mechanism through which mutations lead to tumorigenesis involves altered histones methylation with gain of global H3K27 methylation, altered Polycomb repressive complex 1 (PRC1) activity, aberrant epigenetic regulation of gene expression and impaired differentiation of mesenchimal progenitor cells. {ECO:0000269 PubMed:27174990}.

Additional Disease Information for H3C12

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with H3C12: view

No data available for Genatlas for H3C12 Gene

Publications for H3C12 Gene

  1. The human and mouse replication-dependent histone genes. (PMID: 12408966) Marzluff WF … Maltais LJ (Genomics 2002) 2 3 4
  2. The human histone gene cluster at the D6S105 locus. (PMID: 9439656) Albig W … Doenecke D (Human genetics 1997) 2 3 4
  3. Expression patterns and post-translational modifications associated with mammalian histone H3 variants. (PMID: 16267050) Hake SB … Hunt DF (The Journal of biological chemistry 2006) 3 4
  4. Molecular basis for the recognition of phosphorylated and phosphoacetylated histone h3 by 14-3-3. (PMID: 16246723) Macdonald N … Mahadevan LC (Molecular cell 2005) 3 4
  5. Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins. (PMID: 11242053) Lachner M … Jenuwein T (Nature 2001) 3 4

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