This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] See more...

Aliases for NOL3 Gene

Aliases for NOL3 Gene

  • Nucleolar Protein 3 2 3 4 5
  • Nucleolar Protein 3 (Apoptosis Repressor With CARD Domain) 2 3
  • Muscle-Enriched Cytoplasmic Protein 3 4
  • Nucleolar Protein Of 30 KDa 3 4
  • ARC 3 4
  • NOP 3 4
  • Apoptosis Repressor With CARD 4
  • MYOCL1 3
  • NOP30 3
  • Nop30 4
  • FCM 3
  • MYP 3
  • Myp 4

External Ids for NOL3 Gene

Previous GeneCards Identifiers for NOL3 Gene

  • GC16P057902
  • GC16P067585
  • GC16P066943
  • GC16P066984
  • GC16P065765
  • GC16P067207
  • GC16P053077
  • GC16P067172

Summaries for NOL3 Gene

Entrez Gene Summary for NOL3 Gene

  • This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for NOL3 Gene

NOL3 (Nucleolar Protein 3) is a Protein Coding gene. Diseases associated with NOL3 include Myoclonus, Familial, 1 and Ischemia. Among its related pathways are Apoptosis and Autophagy and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and RNA binding. An important paralog of this gene is CARD6.

UniProtKB/Swiss-Prot Summary for NOL3 Gene

  • [Isoform 1]: May be involved in RNA splicing.
  • [Isoform 2]: Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity).

Gene Wiki entry for NOL3 Gene

Additional gene information for NOL3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOL3 Gene

Genomics for NOL3 Gene

GeneHancer (GH) Regulatory Elements for NOL3 Gene

Promoters and enhancers for NOL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J067168 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 500.7 +2.0 1969 6.5 HNRNPK ZBTB40 ZNF217 CTCF NRF1 TCF12 POLR2G USF1 PHF8 ZNF10 NOL3 lnc-HSF4-1-001 lnc-HSF4-1-002 ELMO3 ATP6V0D1 FHOD1 ENSG00000260465 lnc-KIAA0895L-1 HSF4
GH16J066971 Enhancer 0.6 Ensembl 11.4 -198.9 -198853 1 FOS RBM25 NFIC NR3C1 NR2F1 HDAC2 TCF12 ZMYM3 JUN KDM1A ELMO3 HSF4 C16orf70 NOL3 CES2 RRAD CDH16 EXOC3L1 KIAA0895L E2F4
GH16J066974 Enhancer 0.6 Ensembl 11.4 -195.0 -195038 1 FOXA2 ZNF316 ZFHX2 DRAP1 MEIS2 POLR2A E4F1 NFATC3 NFYC EGR2 piR-33422-171 piR-31470-219 CES3 FBXL8 TRADD HSF4 C16orf70 NOL3 CES2 CBFB
GH16J067137 Enhancer 0.5 ENCODE 11.5 -32.4 -32361 0.2 ZIC2 NFIC PBX2 GATA2 MEIS2 NFIA POLR2A PKNOX1 FBXL8 TRADD HSF4 NOL3 CBFB KIAA0895L E2F4 EXOC3L1 CES2 CDH16
GH16J066902 Enhancer 1.8 VISTA FANTOM5 ENCODE CraniofacialAtlas dbSUPER 1.6 -265.6 -265613 4.1 FOXK2 NCOR1 FOS ZNF10 ZIC2 KDM6A TCF7 ZBTB25 MYC CTBP1 CES2 KIAA0895L E2F4 NAE1 RRAD CIAO2B EDC4 CENPT CTCF EXOC3L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOL3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOL3

Top Transcription factor binding sites by QIAGEN in the NOL3 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • MyoD
  • p53

Genomic Locations for NOL3 Gene

Genomic Locations for NOL3 Gene
chr16:67,170,154-67,175,737
(GRCh38/hg38)
Size:
5,584 bases
Orientation:
Plus strand
chr16:67,204,057-67,209,643
(GRCh37/hg19)
Size:
5,587 bases
Orientation:
Plus strand

Genomic View for NOL3 Gene

Genes around NOL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOL3 Gene

Proteins for NOL3 Gene

  • Protein details for NOL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60936-NOL3_HUMAN
    Recommended name:
    Nucleolar protein 3
    Protein Accession:
    O60936
    Secondary Accessions:
    • B4DFL0
    • O60937

    Protein attributes for NOL3 Gene

    Size:
    208 amino acids
    Molecular mass:
    22629 Da
    Quaternary structure:
    • Oligomerizes (via CARD doamin). Interacts (via CARD domain) with CASP2; inhibits CASP2 activity in a phosphorylation-dependent manner. Interacts with CASP8; decreases CASP8 activity in a mitochondria localization- and phosphorylation-dependent manner and this interaction is dissociated by calcium. Interacts with TFPT; translocates NOL3 into the nucleus and negatively regulated TFPT-induced cell death (By similarity). Interacts directly (via CARD domain) with FAS and FADD (via DED domain); inhibits death-inducing signaling complex death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS-FADD binding induced by FAS activation (By similarity). Interacts (via CARD domain) with BAX (via a C-terminal 33 residues); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria. Interacts with PPM1G; may dephosphorylate NOL3 (By similarity). Interacts (via CARD domain) with BBC3 (via BH3 domain); preventing the association of BBC3 with BCL2 and resulting in activation of CASP8 (By similarity). Interacts (via CARD domain) with BAD(via BH3 domain); preventing the association of BAD with BCL2 (By similarity). Interacts directly (via CARD domain) with TNFRSF1A; inhibits TNF-signaling pathway (By similarity). Isoform 1 binds to SFRS9/SRp30C.

    Three dimensional structures from OCA and Proteopedia for NOL3 Gene

    Alternative splice isoforms for NOL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOL3 Gene

Post-translational modifications for NOL3 Gene

  • Phosphorylation at Thr-149 is required for its antiapoptotic effect by blocking death-inducing signaling complex death-inducing signaling complex (DISC) activity through the control of interaction with CASP8. Phosphorylation at Thr-149 results in translocation to mitochondria and this translocation enables the binding to CASP8. Dephosphorylated at Thr-149 by calcineurin; doesn't inhibit the association between FADD and CASP8 and the consequent apoptosis.
  • Polyubiquitinated by MDM2; promoting proteasomal-dependent degradation in response to apoptotic stimuli.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NOL3 Gene

Domains & Families for NOL3 Gene

Gene Families for NOL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NOL3 Gene

Blocks:
  • CARD interaction domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NOL3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58768, highly similar to Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), mRNA (B4DFL0_HUMAN)
  • Nucleolar protein of 30 kDa (NOL3_HUMAN)
  • cDNA, FLJ95803, Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), mRNA (Q5TZN6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60936

UniProtKB/Swiss-Prot:

NOL3_HUMAN :
  • CARD is critical for both extrinsic and intrinsic apoptotic pathways (By similarity). CARD domain mediates a protective effect against myocardial ischemia/reperfusion, oxidative stress and TNF-induced necrosis (PubMed:15004034). The calcium binding domain plays a protective role in calcium-mediated cell death (PubMed:15509781).
Domain:
  • CARD is critical for both extrinsic and intrinsic apoptotic pathways (By similarity). CARD domain mediates a protective effect against myocardial ischemia/reperfusion, oxidative stress and TNF-induced necrosis (PubMed:15004034). The calcium binding domain plays a protective role in calcium-mediated cell death (PubMed:15509781).
genes like me logo Genes that share domains with NOL3: view

Function for NOL3 Gene

Molecular function for NOL3 Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: May be involved in RNA splicing.
UniProtKB/Swiss-Prot Function:
[Isoform 2]: Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity).
UniProtKB/Swiss-Prot Induction:
Protein expression decreases in hearts failure patients (PubMed:16505176) and in response to oxidative stress (PubMed:17142452).

Phenotypes From GWAS Catalog for NOL3 Gene

Gene Ontology (GO) - Molecular Function for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 10196175
GO:0005102 signaling receptor binding IPI --
GO:0005123 death receptor binding IPI --
GO:0005509 calcium ion binding IMP 15509781
GO:0005515 protein binding IPI 10196175
genes like me logo Genes that share ontologies with NOL3: view
genes like me logo Genes that share phenotypes with NOL3: view

Human Phenotype Ontology for NOL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOL3 Gene

MGI Knock Outs for NOL3:
  • Nol3 Nol3<tm1.1Rnkt>
  • Nol3 Nol3<tm1Rvh>

Animal Model Products

CRISPR Products

miRNA for NOL3 Gene

miRTarBase miRNAs that target NOL3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOL3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOL3 Gene

Localization for NOL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOL3 Gene

[Isoform 1]: Nucleus, nucleolus. Note=The SR-rich C-terminus mediates nuclear localization. {ECO:0000269 PubMed:10196175}.
[Isoform 3]: Cytoplasm.
[Isoform 2]: Cytoplasm. Mitochondrion. Sarcoplasmic reticulum. Membrane; Lipid-anchor. Note=Phosphorylation at Thr-149 results in translocation to mitochondria. Colocalized with mitochondria in response to oxidative stress. {ECO:0000250 UniProtKB:Q62881}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOL3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
endoplasmic reticulum 3
extracellular 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA,TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion ISS --
genes like me logo Genes that share ontologies with NOL3: view

Pathways & Interactions for NOL3 Gene

PathCards logo

SuperPathways for NOL3 Gene

genes like me logo Genes that share pathways with NOL3: view

Pathways by source for NOL3 Gene

1 R&D Systems pathway for NOL3 Gene
1 Cell Signaling Technology pathway for NOL3 Gene

Gene Ontology (GO) - Biological Process for NOL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001974 blood vessel remodeling IMP --
GO:0002931 response to ischemia IMP --
GO:0006376 mRNA splice site selection IDA 10196175
GO:0006397 mRNA processing IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with NOL3: view

No data available for SIGNOR curated interactions for NOL3 Gene

Drugs & Compounds for NOL3 Gene

(1) Drugs for NOL3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NOL3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOL3: view

Transcripts for NOL3 Gene

mRNA/cDNA for NOL3 Gene

8 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOL3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: -
SP2: - - -
SP3: - -
SP4: -
SP5:
SP6: - - - -
SP7:

Relevant External Links for NOL3 Gene

GeneLoc Exon Structure for
NOL3

Expression for NOL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOL3 Gene

Protein differential expression in normal tissues from HIPED for NOL3 Gene

This gene is overexpressed in Skin (8.8), Salivary gland (7.7), and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NOL3 Gene



Protein tissue co-expression partners for NOL3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOL3

SOURCE GeneReport for Unigene cluster for NOL3 Gene:

Hs.513667

mRNA Expression by UniProt/SwissProt for NOL3 Gene:

O60936-NOL3_HUMAN
Tissue specificity: Highly expressed in heart and skeletal muscle. Detected at low levels in placenta, liver, kidney and pancreas.

Evidence on tissue expression from TISSUES for NOL3 Gene

  • Nervous system(4.5)
  • Kidney(4.2)
  • Liver(4.2)
  • Muscle(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOL3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with NOL3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for NOL3 Gene

Orthologs for NOL3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NOL3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia NOL3 31 30
  • 84.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nol3 17 31 30
  • 83.67 (n)
rat
(Rattus norvegicus)
Mammalia Nol3 30
  • 83 (n)
cow
(Bos Taurus)
Mammalia NOL3 31 30
  • 82.69 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOL3 31
  • 33 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOL3 31
  • 31 (a)
OneToOne
Species where no ortholog for NOL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NOL3 Gene

ENSEMBL:
Gene Tree for NOL3 (if available)
TreeFam:
Gene Tree for NOL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOL3: view image

Paralogs for NOL3 Gene

Paralogs for NOL3 Gene

genes like me logo Genes that share paralogs with NOL3: view

Variants for NOL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOL3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
710884 Likely Benign: not provided 67,174,667(+) G/C MISSENSE_VARIANT,SYNONYMOUS_VARIANT
717334 Likely Benign: not provided 67,174,656(+) G/A MISSENSE_VARIANT,SYNONYMOUS_VARIANT
808057 Uncertain Significance: not provided 67,174,880(+) G/A MISSENSE_VARIANT,SYNONYMOUS_VARIANT
rs397514600 Pathogenic: Myoclonus, familial 1. Myoclonus, familial, 1 (MYOCL1) [MIM:614937] 67,174,230(+) G/Cp.Glu21Gln MISSENSE_VARIANT
rs780601409 Myoclonus, familial, 1 (MYOCL1) [MIM:614937] p.Ala80Thr

Additional dbSNP identifiers (rs#s) for NOL3 Gene

Structural Variations from Database of Genomic Variants (DGV) for NOL3 Gene

Variant ID Type Subtype PubMed ID
nsv1160429 CNV deletion 26073780
nsv471092 CNV gain 18288195
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv524492 CNV loss 19592680
nsv827707 CNV loss 20364138
nsv952044 CNV deletion 24416366

Variation tolerance for NOL3 Gene

Residual Variation Intolerance Score: 91.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 35.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOL3 Gene

Human Gene Mutation Database (HGMD)
NOL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOL3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOL3 Gene

Disorders for NOL3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NOL3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myoclonus, familial, 1
  • myocl1
ischemia
  • acute coronary syndrome
myoclonus
degenerative myopia
  • degenerative progressive high myopia
ulcerative stomatitis
  • aphthous stomatitis
- elite association - COSMIC cancer census association via MalaCards
Search NOL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOL3_HUMAN
  • Myoclonus, familial, 1 (MYOCL1) [MIM:614937]: An autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness. {ECO:0000269 PubMed:22926851, ECO:0000269 PubMed:25138476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NOL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NOL3: view

No data available for Genatlas for NOL3 Gene

Publications for NOL3 Gene

  1. ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases. (PMID: 9560245) Koseki T … Núñez G (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23 54
  2. Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c. (PMID: 10196175) Stoss O … Stamm S (The Journal of biological chemistry 1999) 3 4 23 54
  3. Familial cortical myoclonus with a mutation in NOL3. (PMID: 22926851) Russell JF … Ptáček LJ (Annals of neurology 2012) 3 4 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41 54

Products for NOL3 Gene

Sources for NOL3 Gene