NOVA2

Protein identityUniProt · HPA

UniProt accession

Q9UNW9

Gene

NOVA2

Ensembl

ENSG00000104967

Chromosome

19

Canonical length

492 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Golgi apparatus

OverviewNCBI Gene

Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>Q9UNW9|NOVA2
     1  MEPEAPDSRK RPLETPPEVV CTKRSNTGEE GEYFLKVLIP SYAAGSIIGK GGQTIVQLQK
    61  ETGATIKLSK SKDFYPGTTE RVCLVQGTAE ALNAVHSFIA EKVREIPQAM TKPEVVNILQ
   121  PQTTMNPDRA KQAKLIVPNS TAGLIIGKGG ATVKAVMEQS GAWVQLSQKP EGINLQERVV
   181  TVSGEPEQVH KAVSAIVQKV QEDPQSSSCL NISYANVAGP VANSNPTGSP YASPADVLPA
   241  AAAASAAAAS GLLGPAGLAG VGAFPAALPA FSGTDLLAIS TALNTLASYG YNTNSLGLGL
   301  NSAAASGVLA AVAAGANPAA AAAANLLASY AGEAGAGPAG GAAPPPPPPP GALGSFALAA
   361  AANGYLGAGA GGGAGGGGGP LVAAAAAAGA AGGFLTAEKL AAESAKELVE IAVPENLVGA
   421  ILGKGGKTLV EYQELTGARI QISKKGEFLP GTRNRRVTIT GSPAATQAAQ YLISQRVTYE
   481  QGVRASNPQK VG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NOVA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NOVA2.

Disease | AllUniProt

Conditions NOVA2 is implicated in, by any mechanism.

• Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) MIM:618859

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 125 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
• Severe intellectual disability
• Intellectual disability
• NOVA2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.24

gnomAD pLI

0.98

gnomAD missense Z

4.35

DepMap mean gene effect

0.1

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• central nervous system neuron development
• mRNA splicing, via spliceosome
• negative regulation of cold-induced thermogenesis
• neuron differentiation
• regulation of alternative mRNA splicing, via spliceosome
• regulation of axon guidance
• regulation of RNA metabolic process

Molecular functions

• mRNA binding
• RNA binding
• sequence-specific mRNA binding

Cellular components

• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• K Homology domain
• K Homology domain, type 1
• K Homology domain, type 1 superfamily
• RNA-binding protein Nova-1/2, type I K Homology domain 3
• RNA-binding protein Nova-1/2, type I K Homology domain 1
• RNA-binding protein Nova-1/2, type I K Homology domain 2
• KH domain

KeywordsUniProt

• Autism spectrum disorder
• Intellectual disability
• Isopeptide bond
• mRNA processing
• mRNA splicing
• Neurogenesis
• Nucleus
• Repeat
• RNA-binding
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of NOVA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PTBP2