NOTCH4 (Entrez ID: 4855)

Entrez Gene ID	4855
Official Gene Symbol	NOTCH4 (GeneCards)
Full name	notch 4
Location	6p21.32
Other ids	Vega : OTTHUMG00000031044 MIM : 164951 HGNC : HGNC:7884 Ensembl : ENSG00000204301
Other names	INT3
Summary	This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Variants

Found 32 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
9131	4855	NOTCH4	6	32226772	32226772	Asymptomatic	HiSeq X Ten
9356	4855	NOTCH4	6	32229945	32229945	Asymptomatic	HiSeq X Ten
10123	4855	NOTCH4	6	32238279	32238279	Cockayne syndrome	HiSeq X Ten
31138	4855	NOTCH4	6	32166773	32166773	Asymptomatic	HiSeq X Ten NGS gene panel
31139	4855	NOTCH4	6	32188022	32188022	Asymptomatic	HiSeq X Ten NGS gene panel
31140	4855	NOTCH4	6	32188022	32188022	Asymptomatic	HiSeq X Ten NGS gene panel
31141	4855	NOTCH4	6	32165313	32165313	Asymptomatic	HiSeq X Ten NGS gene panel
31142	4855	NOTCH4	6	32170010	32170010	Asymptomatic	HiSeq X Ten NGS gene panel
31143	4855	NOTCH4	6	32166336	32166337	Asymptomatic	HiSeq X Ten NGS gene panel
32600	4855	NOTCH4	6	32169987	32169987	Asymptomatic	HiSeq X Ten NGS gene panel
32601	4855	NOTCH4	6	32163610	32163610	Asymptomatic	HiSeq X Ten NGS gene panel
32602	4855	NOTCH4	6	32180298	32180298	Asymptomatic	HiSeq X Ten NGS gene panel
32603	4855	NOTCH4	6	32163858	32163859	Asymptomatic	HiSeq X Ten NGS gene panel
32604	4855	NOTCH4	6	32169976	32169976	Asymptomatic	HiSeq X Ten NGS gene panel
32605	4855	NOTCH4	6	32191672	32191672	Asymptomatic	HiSeq X Ten NGS gene panel
32606	4855	NOTCH4	6	32172005	32172005	Asymptomatic	HiSeq X Ten NGS gene panel
32607	4855	NOTCH4	6	32163526	32163526	Asymptomatic	HiSeq X Ten NGS gene panel
32608	4855	NOTCH4	6	32169174	32169174	Asymptomatic	HiSeq X Ten NGS gene panel
32609	4855	NOTCH4	6	32163486	32163486	Asymptomatic	HiSeq X Ten NGS gene panel
32610	4855	NOTCH4	6	32163404	32163404	Asymptomatic	HiSeq X Ten NGS gene panel
32611	4855	NOTCH4	6	32169177	32169177	Asymptomatic	HiSeq X Ten NGS gene panel
32612	4855	NOTCH4	6	32163787	32163787	Asymptomatic	HiSeq X Ten NGS gene panel
32613	4855	NOTCH4	6	32187989	32187989	Asymptomatic	HiSeq X Ten NGS gene panel
32614	4855	NOTCH4	6	32178698	32178698	Asymptomatic	HiSeq X Ten NGS gene panel
32615	4855	NOTCH4	6	32185036	32185036	Asymptomatic	HiSeq X Ten NGS gene panel
33770	4855	NOTCH4	6	32188406	32188406	Asymptomatic	HiSeq X Ten NGS gene panel
33771	4855	NOTCH4	6	32169933	32169934	Asymptomatic	HiSeq X Ten NGS gene panel
33772	4855	NOTCH4	6	32169933	32169934	Asymptomatic	HiSeq X Ten NGS gene panel
33773	4855	NOTCH4	6	32166333	32166333	Asymptomatic	HiSeq X Ten NGS gene panel
33774	4855	NOTCH4	6	32164738	32164738	Asymptomatic	HiSeq X Ten NGS gene panel
33775	4855	NOTCH4	6	32188891	32188891	Asymptomatic	HiSeq X Ten NGS gene panel
33776	4855	NOTCH4	6	32181516	32181516	Asymptomatic	HiSeq X Ten NGS gene panel