NOTCH4

notch receptor 4

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]

Known Variants212 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs41270468	6:32,163,063	T/C	regulatory region variant	—
rs8192583	6:32,163,274	G/A	—	benign
rs150089454	6:32,163,306	G/A	—	uncertain significance
rs1415928355	6:32,163,309	T/A	—	uncertain significance
rs764021089	6:32,163,408	G/A	—	uncertain significance
rs146281071	6:32,163,476	G/A	—	uncertain significance
rs892478057	6:32,163,488	C/G	—	uncertain significance
rs1787839668	6:32,163,530	C/G	—	uncertain significance
rs370041101	6:32,163,533	C/T	—	uncertain significance
rs1044507	6:32,163,541	A/C	—	benign
rs199672847	6:32,163,614	C/T	—	uncertain significance
rs8192581	6:32,163,664	C/T	—	benign
rs988401099	6:32,163,678	C/A	—	uncertain significance
rs376773696	6:32,163,729	G/T	—	uncertain significance
rs13215567	6:32,163,748	C/T	synonymous variant	—
rs766900262	6:32,163,762	C/T	—	uncertain significance
rs8192579	6:32,163,799	T/C	—	benign
rs182937662	6:32,163,930	G/C	—	likely benign
rs374317137	6:32,164,759	C/T	—	uncertain significance
rs142586922	6:32,164,799	C/T	—	benign
rs143991041	6:32,164,819	C/T	—	likely benign
rs1353174622	6:32,164,840	G/A	—	uncertain significance
rs368983049	6:32,164,843	G/A	—	uncertain significance
rs2071280	6:32,164,869	G/C	—	benign
rs2071279	6:32,164,874	C/A	—	benign
rs148746475	6:32,165,201	G/A	—	uncertain significance
rs755664291	6:32,165,273	G/T	—	uncertain significance
rs8192576	6:32,165,300	A/G	—	benign
rs539731194	6:32,165,354	T/A	—	uncertain significance
rs768043433	6:32,165,360	G/T	—	uncertain significance
rs1468889473	6:32,165,362	G/A	—	uncertain significance
rs2071278	6:32,165,444	A/G	regulatory region variant	benign
rs9267820	6:32,165,583	G/A	—	benign
rs773724911	6:32,166,206	C/T	—	uncertain significance
rs2114437	6:32,166,380	C/G	—	benign
rs8192575	6:32,166,384	C/G	—	benign
rs761314959	6:32,166,763	C/T	—	uncertain significance
rs142608082	6:32,166,811	C/T	—	uncertain significance
rs11967083	6:32,166,831	C/T	—	likely benign
rs3132934	6:32,167,009	G/T	—	benign
rs745649531	6:32,168,640	G/A	—	uncertain significance
rs1311075766	6:32,168,725	G/A	—	uncertain significance
rs2481160312	6:32,168,727	G/A	—	uncertain significance
rs3134942	6:32,168,771	G/T	synonymous variant	benign
rs204987	6:32,168,932	C/T	—	benign
rs138132429	6:32,168,963	G/A	—	uncertain significance
rs567483221	6:32,168,969	C/T	—	uncertain significance
rs763391002	6:32,168,970	G/A	—	uncertain significance
rs765918039	6:32,169,009	A/G	—	uncertain significance
rs1582780132	6:32,169,076	C/T	—	likely benign
rs774869868	6:32,169,106	G/A	—	likely benign
rs8192574	6:32,169,145	G/A	synonymous variant	—
rs139941835	6:32,169,237	C/T	—	uncertain significance
rs368053473	6:32,169,240	T/C	—	uncertain significance
rs1788382365	6:32,169,860	C/T	—	likely benign
rs61729676	6:32,169,971	C/G	—	benign
rs375443109	6:32,170,007	C/T	—	uncertain significance
rs746443332	6:32,170,027	G/A	—	conflicting classifications of pathogenicity
rs764352594	6:32,170,103	G/A	—	uncertain significance
rs757487459	6:32,170,216	G/A	—	uncertain significance
rs1788419509	6:32,170,288	T/C	—	uncertain significance
rs201260854	6:32,170,313	C/T	—	benign
rs9267822	6:32,170,407	C/G	—	benign
rs2071287	6:32,170,433	C/T	intron variant	benign
rs3132935	6:32,171,075	A/T	—	—
rs114299952	6:32,171,368	T/C	—	benign
rs145829334	6:32,171,576	G/A	—	uncertain significance
rs2481192637	6:32,171,578	G/A	—	uncertain significance
rs927075649	6:32,171,617	G/A	—	uncertain significance
rs528464768	6:32,171,638	A/G	—	uncertain significance
rs2071277	6:32,171,683	T/C	intron variant	benign
rs2481197780	6:32,171,998	C/G	—	uncertain significance
rs778805886	6:32,172,063	A/T	—	uncertain significance
rs1044506	6:32,172,065	G/T	—	benign
rs3131296	6:32,172,993	C/T	regulatory region variant	—
rs9267823	6:32,173,238	T/C	intron variant	—
rs3131295	6:32,173,257	G/A	intron variant	—
rs2849017	6:32,174,048	A/G	intron variant	—
rs3130290	6:32,174,957	T/C	intron variant	—
rs3130293	6:32,177,263	G/A	intron variant	—
rs8192567	6:32,178,520	C/A	—	benign
rs759200326	6:32,178,554	G/C	—	uncertain significance
rs910228410	6:32,178,558	T/C	—	likely benign
rs762694349	6:32,178,566	G/A	—	uncertain significance
rs17604492	6:32,178,570	C/T	—	benign
rs201560532	6:32,178,603	C/T	—	uncertain significance
rs1213984385	6:32,178,636	G/C	—	uncertain significance
rs2481252891	6:32,178,667	G/C	—	uncertain significance
rs1788970659	6:32,178,681	C/T	—	uncertain significance
rs1309934695	6:32,178,705	C/T	—	uncertain significance
rs3130294	6:32,178,773	T/C	—	benign
rs75484377	6:32,178,902	T/C	—	benign
rs3132956	6:32,179,438	G/A	intron variant	—
rs16869834	6:32,179,709	A/G	intron variant	—
rs3131294	6:32,180,146	A/G	—	benign
rs206019	6:32,180,241	C/T	—	benign
rs751888857	6:32,180,254	G/T	—	uncertain significance
rs770742362	6:32,180,412	G/A	—	likely benign
rs2071285	6:32,180,431	A/T	intron variant	benign
rs150079294	6:32,180,684	A/C	—	likely benign

Showing 100 of 212 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.