Details for: NOVA2

Gene ID: 4858

Symbol: NOVA2

Ensembl ID: ENSG00000104967

Description: NOVA alternative splicing regulator 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 55.7036
    Cell Significance Index: -22.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.4494
    Cell Significance Index: 290.7500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.4317
    Cell Significance Index: 31.3500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.7769
    Cell Significance Index: 22.1700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.7113
    Cell Significance Index: 10.2300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6825
    Cell Significance Index: 244.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5433
    Cell Significance Index: 24.0300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4883
    Cell Significance Index: 18.4900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4506
    Cell Significance Index: 30.3000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4069
    Cell Significance Index: 281.4300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3975
    Cell Significance Index: 24.4400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.3749
    Cell Significance Index: 2.8900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1926
    Cell Significance Index: 4.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0585
    Cell Significance Index: 36.5300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0292
    Cell Significance Index: 0.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0126
    Cell Significance Index: 0.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0120
    Cell Significance Index: -8.8900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0131
    Cell Significance Index: -24.6100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0167
    Cell Significance Index: -30.8200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0200
    Cell Significance Index: -30.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0224
    Cell Significance Index: -30.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0283
    Cell Significance Index: -15.9700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0290
    Cell Significance Index: -21.2800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.0298
    Cell Significance Index: -0.1800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0318
    Cell Significance Index: -20.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0371
    Cell Significance Index: -28.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0496
    Cell Significance Index: -27.1100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0522
    Cell Significance Index: -23.7000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0712
    Cell Significance Index: -20.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0757
    Cell Significance Index: -4.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0804
    Cell Significance Index: -16.9300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0894
    Cell Significance Index: -15.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1055
    Cell Significance Index: -19.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1191
    Cell Significance Index: -23.6400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1381
    Cell Significance Index: -17.7100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1568
    Cell Significance Index: -22.7900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1573
    Cell Significance Index: -19.3400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1820
    Cell Significance Index: -1.0800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1890
    Cell Significance Index: -24.4200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1966
    Cell Significance Index: -27.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2157
    Cell Significance Index: -24.6300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2216
    Cell Significance Index: -22.6400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2300
    Cell Significance Index: -26.8000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2603
    Cell Significance Index: -27.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2631
    Cell Significance Index: -30.1400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2648
    Cell Significance Index: -5.6200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2693
    Cell Significance Index: -21.3300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2802
    Cell Significance Index: -3.4800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2988
    Cell Significance Index: -18.8300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3210
    Cell Significance Index: -10.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3275
    Cell Significance Index: -24.4100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3371
    Cell Significance Index: -25.8700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3448
    Cell Significance Index: -10.9800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3522
    Cell Significance Index: -7.6100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3707
    Cell Significance Index: -7.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3754
    Cell Significance Index: -10.4900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3874
    Cell Significance Index: -20.1800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3896
    Cell Significance Index: -5.5800
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.4273
    Cell Significance Index: -2.7800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4443
    Cell Significance Index: -8.9200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4552
    Cell Significance Index: -5.3100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4727
    Cell Significance Index: -5.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4910
    Cell Significance Index: -17.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5076
    Cell Significance Index: -23.8600
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.5115
    Cell Significance Index: -6.2000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5234
    Cell Significance Index: -27.1900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5380
    Cell Significance Index: -13.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.5586
    Cell Significance Index: -25.3200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.5655
    Cell Significance Index: -5.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5780
    Cell Significance Index: -26.9500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.5994
    Cell Significance Index: -6.5300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6380
    Cell Significance Index: -22.1700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6507
    Cell Significance Index: -13.5800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6540
    Cell Significance Index: -16.8100
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -0.6643
    Cell Significance Index: -6.8800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.7050
    Cell Significance Index: -17.5800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.7454
    Cell Significance Index: -7.7700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7632
    Cell Significance Index: -22.4800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.8014
    Cell Significance Index: -10.6900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.8196
    Cell Significance Index: -6.7700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.8210
    Cell Significance Index: -30.1400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8275
    Cell Significance Index: -23.7200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.8285
    Cell Significance Index: -14.6400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.8492
    Cell Significance Index: -8.0800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.8581
    Cell Significance Index: -17.4600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.8958
    Cell Significance Index: -26.3100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.8968
    Cell Significance Index: -38.9900
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.9059
    Cell Significance Index: -17.8300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.9132
    Cell Significance Index: -15.7900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.9209
    Cell Significance Index: -24.5900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.9254
    Cell Significance Index: -11.5400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.9311
    Cell Significance Index: -19.4900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.9438
    Cell Significance Index: -12.2400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.9625
    Cell Significance Index: -25.3100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.9746
    Cell Significance Index: -26.0700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.9950
    Cell Significance Index: -26.6600
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -1.0025
    Cell Significance Index: -12.6500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -1.0181
    Cell Significance Index: -25.9400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.0197
    Cell Significance Index: -32.2500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.0260
    Cell Significance Index: -29.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Alternative Splicing Regulator:** NOVA2 is a key regulator of alternative splicing, a process that allows for the creation of multiple protein isoforms from a single gene. 2. **Spliceosome Interaction:** NOVA2 interacts with the spliceosome, a complex that catalyzes the removal of introns and the joining of exons in pre-mRNA transcripts. 3. **Neuronal Cell-Specific Expression:** NOVA2 is predominantly expressed in neuronal cells, including neurons, astrocytes, and endothelial cells. 4. **Diverse Protein Isoforms:** NOVA2 produces multiple protein isoforms, which are generated through alternative splicing of its exons. **Pathways and Functions:** 1. **Central Nervous System Neuron Development:** NOVA2 plays a crucial role in the development and differentiation of neurons in the central nervous system. 2. **Regulation of Alternative Splicing:** NOVA2 modulates the inclusion or exclusion of specific exons in pre-mRNA transcripts, influencing the production of diverse protein isoforms. 3. **Negative Regulation of Cold-Induced Thermogenesis:** NOVA2 has been implicated in the negative regulation of cold-induced thermogenesis, a process that involves the production of heat-shock proteins. 4. **Regulation of Axon Guidance:** NOVA2 has been shown to regulate axon guidance, a process that involves the migration and growth of axons during neuronal development. 5. **Regulation of RNA Metabolic Process:** NOVA2 is involved in the regulation of RNA metabolic processes, including transcription, translation, and RNA degradation. **Clinical Significance:** Dysregulation of NOVA2 has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). Additionally, NOVA2 has been shown to play a role in the development of cancer, including glioblastoma and breast cancer. Further research is needed to fully elucidate the role of NOVA2 in human disease and to explore its potential as a therapeutic target. In conclusion, NOVA2 is a critical gene that regulates alternative splicing in neuronal cells and beyond. Its dysregulation has been implicated in various neurological and cancer disorders, highlighting the importance of further research into its role in human disease.

Genular Protein ID: 3388453276

Symbol: NOVA2_HUMAN

Name: Astrocytic NOVA1-like RNA-binding protein

UniProtKB Accession Codes:

Q9UNW9 O43267 Q9UEA1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10735272

Title: ANOVA, a putative astrocytic RNA binding protein gene that maps to chromosome 19q13.3.

PubMed ID: 10735272

DOI: 10.1007/s100480050005

PubMed ID: 9789075

Title: The neuronal RNA-binding protein Nova-2 is implicated as the autoantigen targeted in POMA patients with dementia.

PubMed ID: 9789075

DOI: 10.1073/pnas.95.22.13254

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 10811881

Title: The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain.

PubMed ID: 10811881

DOI: 10.1073/pnas.090553997

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 10368286

Title: Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains.

PubMed ID: 10368286

DOI: 10.1016/s0969-2126(99)80025-2

PubMed ID: 10676814

Title: Sequence-specific RNA binding by a Nova KH domain: implications for paraneoplastic disease and the fragile X syndrome.

PubMed ID: 10676814

DOI: 10.1016/s0092-8674(00)80668-6

PubMed ID: 32197073

Title: De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

PubMed ID: 32197073

DOI: 10.1016/j.ajhg.2020.02.013

Sequence Information:

  • Length: 492
  • Mass: 49009
  • Checksum: 41B63EAF6899256B
  • Sequence:
    • MEPEAPDSRK RPLETPPEVV CTKRSNTGEE GEYFLKVLIP SYAAGSIIGK GGQTIVQLQK 
ETGATIKLSK SKDFYPGTTE RVCLVQGTAE ALNAVHSFIA EKVREIPQAM TKPEVVNILQ 
PQTTMNPDRA KQAKLIVPNS TAGLIIGKGG ATVKAVMEQS GAWVQLSQKP EGINLQERVV 
TVSGEPEQVH KAVSAIVQKV QEDPQSSSCL NISYANVAGP VANSNPTGSP YASPADVLPA 
AAAASAAAAS GLLGPAGLAG VGAFPAALPA FSGTDLLAIS TALNTLASYG YNTNSLGLGL 
NSAAASGVLA AVAAGANPAA AAAANLLASY AGEAGAGPAG GAAPPPPPPP GALGSFALAA 
AANGYLGAGA GGGAGGGGGP LVAAAAAAGA AGGFLTAEKL AAESAKELVE IAVPENLVGA 
ILGKGGKTLV EYQELTGARI QISKKGEFLP GTRNRRVTIT GSPAATQAAQ YLISQRVTYE 
QGVRASNPQK VG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.