NOTCH2NLA
entrez
388677
canonical
uniprot
Q7Z3S9
canonical
ensembl
ENSG00000264343
resolver
ensembl
ENSG00000286219
resolver
ensp
ENSP00000354929
resolver
ensp
ENSP00000508632
resolver
ensp
ENSP00000508786
resolver
enst
ENST00000688759
resolver
enst
ENST00000689750
resolver
genesymbol
NOTCH2NLA
resolver
genesymbol_syn
N2N
resolver
genesymbol_syn
NOTCH2NL
resolver
hgnc
HGNC:31862
resolver
uniprot
A0A8I5KR58
resolver
uniprot
Q5BKT8
resolver
uniprot
Q5VTG9
resolver
uniprot
Q5XG84
resolver
uniprot
Q6P192
resolver
uniprot
Q8NC23
resolver
uniprot
Q8WUQ9
resolver
uniprot
Q96FY1
resolver
uniprot_entry
A0A8I5KR58_HUMAN
resolver
uniprot_entry
NT2NA_HUMAN
resolver
uniprot_sec
Q5BKT8
resolver
uniprot_sec
Q5VTG9
resolver
uniprot_sec
Q5XG84
resolver
uniprot_sec
Q6P192
resolver
uniprot_sec
Q8NC23
resolver
uniprot_sec
Q8WUQ9
resolver
uniprot_sec
Q96FY1
resolver
amino_acid_sequence
MCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN
uniprot
proteins
disease_involvement
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). {ECO:0000269|PubMed:29856954}.
uniprot
proteins
function
FUNCTION: Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29561261, PubMed:29856954, PubMed:29856955). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity). {ECO:0000250|UniProtKB:P0DPK3, ECO:0000269|PubMed:29561261, ECO:0000269|PubMed:29856954, ECO:0000269|PubMed:29856955}.
uniprot
proteins
mass_dalton
25835
uniprot
proteins
post_translational_modification
PTM: Cleaved by ELANE. {ECO:0000269|PubMed:14673143}.
uniprot
proteins
protein_family
NOTCH family
uniprot
proteins
pubmed
14673143
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
29561261
uniprot
proteins
pubmed
29856954
uniprot
proteins
pubmed
29856955
uniprot
proteins
sequence_length
236
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14673143, ECO:0000269|PubMed:29856954}. Cytoplasm {ECO:0000269|PubMed:14673143}.
uniprot
proteins