CNBP wt Allele

Preferred Label : CNBP wt Allele;

NCIt synonyms : DM2; PROMM; ZCCHC22; Zinc Finger Protein 9 (A Cellular Retroviral Nucleic Acid Binding Protein) Gene; RNF163; CNBP1; ZNF9; FLJ11631; CCHC-Type Zinc Finger, Nucleic Acid Binding Protein wt Allele;

NCIt definition : Human CNBP wild-type allele is located in the vicinity of 3q21 and is approximately 16 kb in length. This allele, which encodes cellular nucleic acid-binding protein, plays a role in transcriptional regulation of sterol responsive genes. A four nucleotide repeat expansion in intron 1 resulting in 75 to 11000 CCTG repeats is associated with myotonic dystrophy type 2.;

GenBank Accession Number : U19765;

Details

Origin ID

C97889;

UMLS CUI

C3273677;

OMIM relation
- Cchc-type zinc finger nucleic acid-binding protein [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_in_chromosomal_location
- 3q21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Dystrophia Myotonica 2 [NCIt concept]
gene_plays_role_in_process
- Cholesterol Homeostasis [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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