ACVR1 wt Allele

Preferred Label : ACVR1 wt Allele;

NCIt synonyms : ACTRI; SKR1; ALK2; Activin A Receptor, Type II-Like Kinase 2 Gene; Activin Receptor-Like Kinase 2 Gene; ACVRLK2; ACVR1A; FOP; Activin A Receptor Type 1 wt Allele; Activin A Receptor, Type I Gene; TSRI;

NCIt definition : Human ACVR1 wild-type allele is located within 2q23-q24 and is approximately 139 kb in length. This allele, which encodes activin receptor type-1 protein, is involved in transcriptional regulation and signal transduction.;

GenBank Accession Number : NM_001105;

Details

Origin ID

C51721;

UMLS CUI

C1704931;

OMIM relation
- Activin a receptor, type I [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
- 2: 158500579-158418469 [NCIt concept]
gene_in_chromosomal_location
- 2q23-q24 [NCIt concept]
gene_is_element_in_pathway
- Cytokine-Cytokine Receptor Signaling Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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