H2AX wt Allele

Preferred Label : H2AX wt Allele;

NCIt synonyms : H2A.X; H2A Histone Family, Member X Gene; H2AFX; H2A/X; H2A Histone Family Member X Gene; H2A.X Variant Histone wt Allele;

NCIt related terms : H2AFX wt Allele;

NCIt definition : Human H2AX wild-type allele is located within 11q23.2-q23.3 and is approximately 2 kb in length. This allele, which encodes histone H2AX protein, is involved in the modulation of transcription, DNA replication and chromosomal stability. The allele may play a role in the regulation of both immunoglobulin class switch recombination and DNA double strand break repair.;

GenBank Accession Number : NM_002105;

Details

Origin ID

C52486;

UMLS CUI

C1705660;

OMIM relation
- H2a histone family, member X [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 11: 118471387-118469797 [NCIt concept]
gene_in_chromosomal_location
- 11q23.2-q23.3 [NCIt concept]
gene_is_element_in_pathway
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Chromatin Structural Process [NCIt concept]
- DNA Topology Regulation [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Gene Regulation Process [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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