Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4858
Gene name	NOVA alternative splicing regulator 2
Gene symbol	NOVA2
Synonyms (NCBI Gene)	ANOVANEDASBNOVA-2NOVA3
Chromosome	19
Chromosome location	19q13.32

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1600596180	A>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT655803	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT655804	hsa-miR-134-3p	HITS-CLIP	23824327
MIRT655802	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT655801	hsa-miR-3119	HITS-CLIP	23824327
MIRT655800	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT655798	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT655799	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT655797	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT655796	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT655795	hsa-miR-10b-3p	HITS-CLIP	23824327
MIRT655794	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT655793	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT655792	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT655791	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT655790	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT655789	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT655788	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT655787	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655786	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT655785	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT655784	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT472081	hsa-miR-223-3p	PAR-CLIP	23592263
MIRT472080	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT472079	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT472078	hsa-miR-4476	PAR-CLIP	23592263
MIRT472077	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT472076	hsa-miR-4779	PAR-CLIP	23592263
MIRT472075	hsa-miR-584-3p	PAR-CLIP	23592263
MIRT472074	hsa-miR-4277	PAR-CLIP	23592263
MIRT472073	hsa-miR-4419a	PAR-CLIP	23592263
MIRT472071	hsa-miR-4510	PAR-CLIP	23592263
MIRT472072	hsa-miR-6127	PAR-CLIP	23592263
MIRT472070	hsa-miR-6129	PAR-CLIP	23592263
MIRT472069	hsa-miR-6130	PAR-CLIP	23592263
MIRT472068	hsa-miR-6133	PAR-CLIP	23592263
MIRT472067	hsa-miR-4533	PAR-CLIP	23592263
MIRT472066	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT472065	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT472064	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT472063	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT472062	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT472061	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT472060	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT472059	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT655803	hsa-miR-7114-5p	HITS-CLIP	23824327
MIRT655804	hsa-miR-134-3p	HITS-CLIP	23824327
MIRT655802	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT655801	hsa-miR-3119	HITS-CLIP	23824327
MIRT655800	hsa-miR-4474-3p	HITS-CLIP	23824327
MIRT655798	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT655799	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT655797	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT655796	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT655795	hsa-miR-10b-3p	HITS-CLIP	23824327
MIRT655794	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT655793	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT655792	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT655791	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT655790	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT655789	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT655788	hsa-miR-4715-3p	HITS-CLIP	23824327
MIRT655787	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT655786	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT655785	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT655784	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT472081	hsa-miR-223-3p	PAR-CLIP	23592263
MIRT472080	hsa-miR-3173-3p	PAR-CLIP	23592263
MIRT472079	hsa-miR-6891-5p	PAR-CLIP	23592263
MIRT472078	hsa-miR-4476	PAR-CLIP	23592263
MIRT472077	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT472076	hsa-miR-4779	PAR-CLIP	23592263
MIRT472075	hsa-miR-584-3p	PAR-CLIP	23592263
MIRT472074	hsa-miR-4277	PAR-CLIP	23592263
MIRT472073	hsa-miR-4419a	PAR-CLIP	23592263
MIRT472071	hsa-miR-4510	PAR-CLIP	23592263
MIRT472072	hsa-miR-6127	PAR-CLIP	23592263
MIRT472070	hsa-miR-6129	PAR-CLIP	23592263
MIRT472069	hsa-miR-6130	PAR-CLIP	23592263
MIRT472068	hsa-miR-6133	PAR-CLIP	23592263
MIRT472067	hsa-miR-4533	PAR-CLIP	23592263
MIRT472066	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT472065	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT472064	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT472063	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT472062	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT472061	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT472060	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT472059	hsa-miR-7111-5p	PAR-CLIP	23592263

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IMP	32197073
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	ISS
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IDA	32197073
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	10735272
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0003729	Function	MRNA binding	ISS
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0030182	Process	Neuron differentiation	IMP	32197073
GO:0051252	Process	Regulation of RNA metabolic process	IEA
GO:0051252	Process	Regulation of RNA metabolic process	IMP	32197073
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	27635635
GO:1902667	Process	Regulation of axon guidance	IEA
GO:1902667	Process	Regulation of axon guidance	ISS
GO:1990825	Function	Sequence-specific mRNA binding	IDA	10811881
GO:1990825	Function	Sequence-specific mRNA binding	IEA

MIM	HGNC	e!Ensembl
601991	7887	ENSG00000104967

Q9UNW9

Protein name

RNA-binding protein Nova-2 (Astrocytic NOVA1-like RNA-binding protein) (Neuro-oncological ventral antigen 2)

Protein 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

PDB

1DTJ , 1EC6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00013	KH_1	35 → 101	KH domain	Domain
PF00013	KH_1	132 → 198	KH domain	Domain
PF00013	KH_1	408 → 475	KH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain. Expression restricted to astrocytes.

Sequence

MEPEAPDSRKRPLETPPEVVCTKRSNTGEEGEYFLKVLIPSYAAGSIIGKGGQTIVQLQK
ETGATIKLSKSKDFYPGTTERVCLVQGTAEALNAVHSFIAEKVREIPQAMTKPEVVNILQ
PQTTMNPDRAKQAKLIVPNSTAGLIIGKGGATVKAVMEQSGAWVQLSQKPEGINLQERVV
TVSGEPEQVHKAVSAIVQKVQEDPQSSSCLNISYANVAGPVANSNPTGSPYASPADVLPA
AAAASAAAASGLLGPAGLAGVGAFPAALPAFSGTDLLAISTALNTLASYGYNTNSLGLGL
NSAAASGVLAAVAAGANPAAAAAANLLASYAGEAGAGPAGGAAPPPPPPPGALGSFALAA
AANGYLGAGAGGGAGGGGGPLVAAAAAAGAAGGFLTAEKLAAESAKELVEIAVPENLVGA
ILGKGGKTLVEYQELTGARIQISKKGEFLPGTRNRRVTITGSPAATQAAQYLISQRVTYE
QGVRASNPQKVG

Sequence length

492

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic	rs2146406775	RCV002273906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	Likely pathogenic; Pathogenic	rs2146406554, rs2513852929, rs2513852016, rs1600596180, rs1967742137, rs1967741450, rs1967739365, rs1967737959, rs1967741386	RCV001786534 RCV002465435 RCV003992061 RCV001090014 RCV001090015 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOVA2-related disorder	Likely pathogenic	rs2513851808	RCV003412461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Pathogenic	rs1600596180	RCV001002674	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Apraxias	Apraxia	Pubtator	35607920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35607920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	10368286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35607920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26531312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32101070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	9789075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28276498	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35607920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	35607920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35305402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30341906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	8843884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	9789075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37534933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36193788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26531312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30275709, 30829570		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10368286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22163036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30829570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraneoplastic Opsoclonus-Myoclonus Ataxia	Opsoclonus-myoclonus syndrome	BEFREE	10368286, 9789075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	40549212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37559353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22163036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35305402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NOVA2 (NOVA alternative splicing regulator 2)