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Q7Z3S9 Proteins EGF-like domain Repeats
Uniprot ID:Q7Z3S9
Protein name: Notch homolog 2 N-terminal-like protein
Gene : NOTCH2NL N2N
Protein Family:NOTCH family
Squence Length : 236
Sequnce
>Q7Z3S9 237 MCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN
Domains
DOMAIN 1 24 EGF-like 1 DOMAIN 25 63 EGF-like 2 DOMAIN 66 104 EGF-like 3 DOMAIN 105 141 EGF-like 4 DOMAIN 143 180 EGF-like 5 calcium-binding DOMAIN 182 219 EGF-like 6
EGF-like sequence regions
1 - 24 VTYHNGTGYCKCPEGFLGEYCQHR 25 - 63 DPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYS 66 - 104 HPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWT 105 - 141 DACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETD 143 - 180 NECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCDSL 182 - 219 VPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELW
Function
May function in the Notch signaling pathway and regulate neutrophil differentiation
Disease
"DISEASE: Note=Defects in NOTCH2NLA may be a cause of chromosome 1q21 1 deletion/duplication syndrome (PubMed:29856954) Deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications (PubMed:29856954)"