NOVA2
entrez
4858
canonical
uniprot
Q9UNW9
canonical
ensembl
ENSG00000104967
resolver
ensp
ENSP00000263257
resolver
enst
ENST00000263257
resolver
genesymbol
NOVA2
resolver
genesymbol_syn
ANOVA
resolver
genesymbol_syn
NOVA3
resolver
hgnc
HGNC:7887
resolver
uniprot
O43267
resolver
uniprot
Q9UEA1
resolver
uniprot_entry
NOVA2_HUMAN
resolver
uniprot_sec
O43267
resolver
uniprot_sec
Q9UEA1
resolver
amino_acid_sequence
MEPEAPDSRKRPLETPPEVVCTKRSNTGEEGEYFLKVLIPSYAAGSIIGKGGQTIVQLQKETGATIKLSKSKDFYPGTTERVCLVQGTAEALNAVHSFIAEKVREIPQAMTKPEVVNILQPQTTMNPDRAKQAKLIVPNSTAGLIIGKGGATVKAVMEQSGAWVQLSQKPEGINLQERVVTVSGEPEQVHKAVSAIVQKVQEDPQSSSCLNISYANVAGPVANSNPTGSPYASPADVLPAAAAASAAAASGLLGPAGLAGVGAFPAALPAFSGTDLLAISTALNTLASYGYNTNSLGLGLNSAAASGVLAAVAAGANPAAAAAANLLASYAGEAGAGPAGGAAPPPPPPPGALGSFALAAAANGYLGAGAGGGAGGGGGPLVAAAAAAGAAGGFLTAEKLAAESAKELVEIAVPENLVGAILGKGGKTLVEYQELTGARIQISKKGEFLPGTRNRRVTITGSPAATQAAQYLISQRVTYEQGVRASNPQKVG
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) [MIM:618859]: An early-onset neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and structural brain abnormalities including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum. {ECO:0000269|PubMed:32197073}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions to regulate alternative splicing in neurons by binding pre-mRNA in a sequence-specific manner to activate exon inclusion or exclusion (PubMed:32197073). It binds specifically to the sequences 5'-YCAY-3' and regulates splicing in only a subset of regulated exons (PubMed:10811881). Binding to an exonic 5'-YCAY-3' cluster changes the protein complexes assembled on pre-mRNA, blocking U1 snRNP binding and exon inclusion, whereas binding to an intronic 5'-YCAY-3' cluster enhances spliceosome assembly and exon inclusion. With NOVA1, they perform unique biological functions in different brain areas and cell types. Uniquely regulates alternative splicing events of a series of axon guidance related genes during cortical development, being essential for central nervous system development by regulating neural networks wiring. Regulates differentially alternative splicing on the same transcripts expressed in different neurons. This includes functional differences in transcripts expressed in cortical and cerebellar excitatory versus inhibitory neurons where is required for, respectively, development of laminar structure and motor coordination and synapse formation. Also the regulation the regulation of intron retention can sequester the trans-acting splicing factor PTBP2, acting as a variable cis-acting scaffolding platform for PTBP2 across various natural conditions (By similarity). {ECO:0000250|UniProtKB:A0A1W2P872, ECO:0000269|PubMed:10811881, ECO:0000269|PubMed:32197073}.
uniprot
proteins
mass_dalton
49009
uniprot
proteins
mutagenesis
MUTAGEN 231..492; /note="Missing: Loss of alternative splicing regulation."; /evidence="ECO:0000269|PubMed:32197073
uniprot
proteins
pubmed
10368286
uniprot
proteins
pubmed
10676814
uniprot
proteins
pubmed
10735272
uniprot
proteins
pubmed
10811881
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32197073
uniprot
proteins
pubmed
9789075
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A1W2P872}.
uniprot
proteins