Neurogenic locus notch homolog protein 2 (Notch 2) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''NOTCH2''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
NOTCH2 is associated with
Alagille syndrome
Alagille syndrome is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and t ...
and
Hajdu–Cheney syndrome.
Function
Notch 2 is a member of the
notch
Notch may refer to:
* Notch (engineering), an indentation or slit in a material
* Nock (arrow), notch in the rearmost end of an arrow
* Markus Persson (born 1979), a Swedish game designer known by his online alias "Notch", best known for creatin ...
family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (
EGF EGF may refer to:
* E.G.F., a Gabonese company
* East Grand Forks, Minnesota, a city
* East Garforth railway station in England
* Epidermal growth factor
* Equity Group Foundation, a Kenyan charity
* European Gendarmerie Force, a military unit of ...
) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells. In ''
Drosophila
''Drosophila'' () is a genus of flies, belonging to the family Drosophilidae, whose members are often called "small fruit flies" or (less frequently) pomace flies, vinegar flies, or wine flies, a reference to the characteristic of many s ...
'', notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the
trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development.
Mutations within the last coding exon of Notch2 that remove the
PEST
Pest or The Pest may refer to:
Science and medicine
* Pest (organism), an animal or plant deemed to be detrimental to humans or human concerns
** Weed, a plant considered undesirable
* Infectious disease, an illness resulting from an infection
** ...
domain and escape the
nonsense-mediated mRNA decay have been shown to be the main cause of the
Hajdu-Cheney syndrome.
Interactions
NOTCH2 has been shown to
interact with:
*
Delta-like 1JAG1
Jagged1 (''JAG1'') is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch Signaling Pathway is a highly conserved pathway that functions to establish and regulate cell fa ...
,[
]
References
Further reading
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External links
GeneReviews/NCBI/UW/NIH entry on Alagille syndrome
OMIM entries on Alagille syndrome
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{{Notch signaling pathway