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NOTCH2 wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C97678

Human NOTCH2 wild-type allele is located within 1p13-p11 and is approximately 158 kb in length. This allele, which encodes neurogenic locus notch homolog protein 2, is involved in the mediation of cell-cell signaling. Mutation of the gene is associated with both Alagille syndrome type 2 and Hajdu-Cheney syndrome. [ ]

Term info

Label

NOTCH2 wt Allele

Synonyms
  • AGS2
  • HJCYS
  • NOTCH2 wt Allele
  • Notch (Drosophila) Homolog 2 Gene
  • Notch 2 wt Allele
  • Notch Homolog 2 (Drosophila) Gene
  • Notch Homolog 2 Gene
  • Notch, Drosophila, Homolog of, 2 Gene
  • hN2
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

NOTCH2 wt Allele

OMIM Number

600275

Preferred Name

NOTCH2 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C3273561

code

C97678