H1-2 (H1.2 linker histone, cluster member)

Gene

• Entrez ID: 3006
• Gene name: H1.2 linker histone, cluster member
• Gene symbol: H1-2
• Synonyms (NCBI Gene): H1.2, H1C, H1F2, H1s-1, HIST1H1C
• Chromosome: 6
• Chromosome location: 6p22.2
• Summary: Histones are basic nuclear proteins responsible for 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IEA
GO:0000786	Component	Nucleosome	IEA
GO:0000791	Component	Euchromatin	IBA
GO:0000791	Component	Euchromatin	IDA	15911621
GO:0000791	Component	Euchromatin	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	22720776, 30021884, 33961781, 34681573, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21383955, 22720776
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0030261	Process	Chromosome condensation	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	15911621
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031492	Function	Nucleosomal DNA binding	IBA
GO:0045910	Process	Negative regulation of DNA recombination	IBA
GO:0061628	Function	Histone H3K27me3 reader activity	IDA	26581166
GO:0140718	Process	Facultative heterochromatin formation	IDA	26581166

Other IDs

• MIM: 142710
• HGNC: 4716
• e!Ensembl: ENSG00000187837

Protein

• UniProt ID: P16403
• Protein name: Histone H1.2 (Histone H1c) (Histone H1d) (Histone H1s-1)
• Protein function: Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Also acts as a
• PDB: 8H0V, 8H0W, 8KE0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00538	Linker_histone	37 → 108	linker histone H1 and H5 family	Domain

• Sequence:

  MSETAPAAPAAAPPAEKAPVKKKAAKKAGGTPRKASGPPVSELITKAVAASKERSGVSLA
  ALKKALAAAGYDVEKNNSRIKLGLKSLVSKGTLVQTKGTGASGSFKLNKKAASGEAKPKV
  KKAGGTKPKKPVGAAKKPKKAAGGATPKKSAKKTPKKAKKPAAATVTKKVAKSPKKAKVA
  KPKKAAKSAAKAVKPKAAKPKVVKPKKAAPKKK

• Sequence length: 213

Pathways

Reactome:

Apoptosis induced DNA fragmentation
Formation of Senescence-Associated Heterochromatin Foci (SAHF)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA VERA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28409999		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28409999		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28409999		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24289130		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27765905		★☆☆☆☆ Found in Text Mining only