NEURL2 Gene (Protein Coding)

Neuralized E3 Ubiquitin Protein Ligase 2

GC20M045888
GIFtS:
35
This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 201... See more...

Aliases for NEURL2 Gene

Aliases for NEURL2 Gene

  • Neuralized E3 Ubiquitin Protein Ligase 2 2 3 5
  • Neuralized-Like Protein 2 3 4
  • C20orf163 3 4
  • Chromosome 20 Open Reading Frame 163 2
  • Neuralized Homolog 2 (Drosophila) 2
  • Neuralized-Like 2 (Drosophila) 2
  • Neuralized Homolog 2 3
  • DJ337O18.6 2
  • FLJ30259 2
  • OZZ-E3 3
  • NEURL2 5
  • Ozz-E3 2
  • OZZ 3
  • Ozz 2

External Ids for NEURL2 Gene

Previous HGNC Symbols for NEURL2 Gene

  • C20orf163

Previous GeneCards Identifiers for NEURL2 Gene

  • GC20M045203
  • GC20M043950
  • GC20M044517
  • GC20M041259

Summaries for NEURL2 Gene

Entrez Gene Summary for NEURL2 Gene

  • This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

GeneCards Summary for NEURL2 Gene

NEURL2 (Neuralized E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with NEURL2 include Galactosialidosis and Col4a1-Related Familial Vascular Leukoencephalopathy.

UniProtKB/Swiss-Prot Summary for NEURL2 Gene

  • Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity).

Gene Wiki entry for NEURL2 Gene

Additional gene information for NEURL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEURL2 Gene

Genomics for NEURL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NEURL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEURL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEURL2

Top Transcription factor binding sites by QIAGEN in the NEURL2 gene promoter:
  • E47
  • GATA-2
  • NF-1/L
  • NF-kappaB
  • Nkx2-5
  • Tal-1beta
  • TBP
  • YY1

Genomic Locations for NEURL2 Gene

Genomic Locations for NEURL2 Gene
chr20:45,888,472-45,891,287
(GRCh38/hg38)
Size:
2,816 bases
Orientation:
Minus strand
chr20:44,517,264-44,519,926
(GRCh37/hg19)
Size:
2,663 bases
Orientation:
Minus strand

Genomic View for NEURL2 Gene

Genes around NEURL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEURL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEURL2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NEURL2 Gene

Proteins for NEURL2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for NEURL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BR09-NEUL2_HUMAN
    Recommended name:
    Neuralized-like protein 2
    Protein Accession:
    Q9BR09
    Secondary Accessions:
    • Q3KR34

    Protein attributes for NEURL2 Gene

    Size:
    285 amino acids
    Molecular mass:
    31690 Da
    Quaternary structure:
    • Probable component the ECS(NEURL2) E3 ubiquitin-protein ligase complex consisting of ELOB/Elongin B, ELOC/Elongin C, CUL5, RBX1 and NEURL2. Interacts with CTNNB1 (By similarity).

neXtProt entry for NEURL2 Gene

Protein Expression for NEURL2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NEURL2 Gene

No Post-translational modifications

Other Protein References for NEURL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NEURL2 Gene

Domains & Families for NEURL2 Gene

Gene Families for NEURL2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NEURL2 Gene

InterPro:
Blocks:
  • SOCS protein, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for NEURL2 Gene

GenScript: Design optimal peptide antigens:
  • Neuralized-like protein 2 (NEUL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BR09

UniProtKB/Swiss-Prot:

NEUL2_HUMAN :
  • The SOCS domain mediates the interaction with ELOB and ELOC, while the NHR domain may be involved in ubiquitination substrate binding.
Domain:
  • The SOCS domain mediates the interaction with ELOB and ELOC, while the NHR domain may be involved in ubiquitination substrate binding.
genes like me logo Genes that share domains with NEURL2: view

Function for NEURL2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for NEURL2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity).

Phenotypes From GWAS Catalog for NEURL2 Gene

Gene Ontology (GO) - Molecular Function for NEURL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with NEURL2: view
genes like me logo Genes that share phenotypes with NEURL2: view

Animal Models for NEURL2 Gene

MGI Knock Outs for NEURL2:

Animal Model Products

CRISPR Products

miRNA for NEURL2 Gene

miRTarBase miRNAs that target NEURL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEURL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEURL2 Gene

Localization for NEURL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEURL2 Gene

Cytoplasm.

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 NEURL2 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEURL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NEURL2: view

Pathways & Interactions for NEURL2 Gene

PathCards logo

SuperPathways for NEURL2 Gene

No Data Available

UniProtKB/Swiss-Prot Q9BR09-NEUL2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for NEURL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with NEURL2: view

No data available for Pathways by source and SIGNOR curated interactions for NEURL2 Gene

Drugs & Compounds for NEURL2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for NEURL2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NEURL2 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 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 NEURL2

Alternative Splicing Database (ASD) splice patterns (SP) for NEURL2 Gene

No ASD Table

Relevant External Links for NEURL2 Gene

GeneLoc Exon Structure for
NEURL2

Expression for NEURL2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEURL2 Gene

mRNA expression in normal human tissues for NEURL2 Gene
mRNA expression by BioGPS for NEURL2 GenemRNA expression by GTEx for NEURL2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEURL2 Gene



Protein tissue co-expression partners for NEURL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEURL2

mRNA Expression by UniProt/SwissProt for NEURL2 Gene:

Q9BR09-NEUL2_HUMAN
Tissue specificity: Expressed specifically in skeletal and cardiac muscles.

Evidence on tissue expression from TISSUES for NEURL2 Gene

  • Muscle(4.4)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with NEURL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEURL2 Gene

Orthologs for NEURL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEURL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NEURL2 30 31
  • 99.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NEURL2 30 31
  • 90.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NEURL2 30 31
  • 88.89 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NEURL2 31
  • 85 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Neurl2 30 17 31
  • 84.68 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Neurl2 30
  • 84.56 (n)
Chicken
(Gallus gallus)
 Aves NEURL2 31
  • 71 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NEURL2 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100494896 30
  • 63.32 (n)
Zebrafish
(Danio rerio)
 Actinopterygii zgc:162187 30
  • 61.28 (n)
NEURL2 31
  • 61 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009070 30
  • 56.04 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3894 30 31
  • 53.23 (n)
 OneToOne
Species where no ortholog for NEURL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NEURL2 Gene

ENSEMBL:
Gene Tree for NEURL2 (if available)
TreeFam:
Gene Tree for NEURL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEURL2: view image

Paralogs for NEURL2 Gene

(1) SIMAP similar genes for NEURL2 Gene using alignment to 2 proteins:

  • NEUL2_HUMAN
  • H0YGA6_HUMAN
genes like me logo Genes that share paralogs with NEURL2: view

No data available for Paralogs for NEURL2 Gene

Variants for NEURL2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEURL2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs116893852 Likely Benign: Combined deficiency of sialidase AND beta galactosidase; not provided 45,891,283(-) G/T NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs117529875 Likely Benign: Combined deficiency of sialidase AND beta galactosidase; not provided 45,891,103(-) G/A NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs184484066 Likely Benign: Combined deficiency of sialidase AND beta galactosidase 45,891,154(-) A/C NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs2868362 Benign: Combined deficiency of sialidase AND beta galactosidase 45,891,004(-) G/A NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs373024722 Uncertain Significance: Combined deficiency of sialidase AND beta galactosidase 45,891,274(-) G/A NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NEURL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NEURL2 Gene

Variant ID Type Subtype PubMed ID
nsv482069 CNV gain 20164927
nsv517296 CNV loss 19592680
nsv833990 CNV loss 17160897
nsv833991 CNV loss 17160897

Variation tolerance for NEURL2 Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEURL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEURL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEURL2 Gene

Disorders for NEURL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NEURL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
galactosialidosis
  • gsl
col4a1-related familial vascular leukoencephalopathy
  • brain small vessel disease with hemorrhage
loeys-dietz syndrome 4
  • lds4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NEURL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NEURL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEURL2 Gene

Publications for NEURL2 Gene

  1. Neuralized-2: expression in human and rodents and interaction with Delta-like ligands. (PMID: 19723503) Rullinkov G … Timmusk T (Biochemical and biophysical research communications 2009) 2 3
  2. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S … Nigro V (Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2008) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis. (PMID: 14960280) Nastasi T … D'Azzo A (Developmental cell 2004) 3 4

ExternalLinks

View latest publications for NEURL2 gene in Mastermind

Products for NEURL2 Gene

Sources for NEURL2 Gene