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Aliases for NEBL Gene

Aliases for NEBL Gene

  • Nebulette 2 3 3 5
  • Actin-Binding Z-Disk Protein 3 4
  • LIM And SH3 Protein 2 2 3
  • LIM-Nebulette 2 3
  • LNEBL 3 4
  • LASP2 3

External Ids for NEBL Gene

Previous GeneCards Identifiers for NEBL Gene

  • GC10M021220
  • GC10M021074
  • GC10M021110
  • GC10M021068

Summaries for NEBL Gene

Entrez Gene Summary for NEBL Gene

  • This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for NEBL Gene

NEBL (Nebulette) is a Protein Coding gene. Diseases associated with NEBL include Endocardial Fibroelastosis and Dilated Cardiomyopathy. GO annotations related to this gene include actin filament binding and structural constituent of muscle. An important paralog of this gene is NEB.

UniProtKB/Swiss-Prot for NEBL Gene

  • Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEBL Gene

Genomics for NEBL Gene

Regulatory Elements for NEBL Gene

Enhancers for NEBL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F021208 1 ENCODE 45.2 -34.8 -34849 1.0 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 CBX5 GATA2 SP3 SP5 NEBL ENSG00000228860
GH10F021278 1.3 Ensembl ENCODE 4.4 -108.8 -108765 9.3 HDGF MLX ZNF133 ARID4B ZNF2 ZNF48 ZNF143 FOS ZNF263 ZNF202 RNU6-15P ENSG00000199222 CASC10 MIR1915 NEBL LUZP4P1 GC10P021323
GH10F021044 1 FANTOM5 3.6 +129.7 129703 0.2 ATF1 ARNT ZBTB40 GATA2 CEBPB ZEB2 MEF2D ZNF589 SMARCA4 IKZF1 RNU6-15P NEBL C10orf113 EIF4BP2 NPM1P30
GH10F021147 0.4 FANTOM5 6.4 +26.9 26915 0.3 ZNF121 NEBL C10orf113 NEBL-AS1
GH10F020929 0.4 FANTOM5 4.3 +244.6 244613 0.4 IKZF1 NEBL C10orf113 LOC102725112 EIF4BP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEBL on UCSC Golden Path with GeneCards custom track

Promoters for NEBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001594083 286 2600 PKNOX1 SIN3A GLI4 ZNF2 YY1 GLIS2 KLF7 FOS ZNF263 SP3

Genomic Location for NEBL Gene

Chromosome:
10
Start:
20,779,971 bp from pter
End:
21,174,187 bp from pter
Size:
394,217 bases
Orientation:
Minus strand

Genomic View for NEBL Gene

Genes around NEBL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NEBL Gene

Proteins for NEBL Gene

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

    Protein Symbol:
    O76041-NEBL_HUMAN
    Recommended name:
    Nebulette
    Protein Accession:
    O76041
    Secondary Accessions:
    • B0YJ45
    • Q2TBD0
    • Q70I54
    • Q9UIC4

    Protein attributes for NEBL Gene

    Size:
    1014 amino acids
    Molecular mass:
    116453 Da
    Quaternary structure:
    • Isoform 2 interacts with ZYX (Zyxin).

    Three dimensional structures from OCA and Proteopedia for NEBL Gene

    Alternative splice isoforms for NEBL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEBL Gene

Post-translational modifications for NEBL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NEBL Gene

Domains & Families for NEBL Gene

Gene Families for NEBL Gene

Protein Domains for NEBL Gene

Graphical View of Domain Structure for InterPro Entry

O76041

UniProtKB/Swiss-Prot:

NEBL_HUMAN :
  • Contains 1 SH3 domain.
  • Contains 23 nebulin repeats.
Domain:
  • Contains 1 SH3 domain.
Similarity:
  • Contains 23 nebulin repeats.
genes like me logo Genes that share domains with NEBL: view

Function for NEBL Gene

Molecular function for NEBL Gene

UniProtKB/Swiss-Prot Function:
Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in the assembly of focal adhesion.

Gene Ontology (GO) - Molecular Function for NEBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11309420
GO:0005523 tropomyosin binding IPI 17987659
GO:0008092 cytoskeletal protein binding IPI 17987659
GO:0008307 structural constituent of muscle NAS 9733644
genes like me logo Genes that share ontologies with NEBL: view
genes like me logo Genes that share phenotypes with NEBL: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for NEBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEBL Gene

Isoform 2: 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 NEBL gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for NEBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 10470015
GO:0005737 cytoplasm IEA --
GO:0030018 Z disc IDA 10470015
GO:0031674 I band NAS 9733644
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with NEBL: view

Pathways & Interactions for NEBL Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071691 cardiac muscle thin filament assembly IMP 11822876
genes like me logo Genes that share ontologies with NEBL: view

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

Transcripts for NEBL Gene

Unigene Clusters for NEBL Gene

Nebulette:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^
SP1:
SP2:
SP3: - - - - - - - - - - - - - - - - - - - -
SP4:
SP5: -

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33
SP1: -
SP2:
SP3: - - - - - - - - - -
SP4:
SP5:

Relevant External Links for NEBL Gene

GeneLoc Exon Structure for
NEBL
ECgene alternative splicing isoforms for
NEBL

Expression for NEBL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEBL Gene

This gene is overexpressed in Heart - Left Ventricle (x15.7) and Heart - Atrial Appendage (x9.3).

Protein differential expression in normal tissues from HIPED for NEBL Gene

This gene is overexpressed in Heart (39.5) and Fetal heart (10.2).

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



NURSA nuclear receptor signaling pathways regulating expression of NEBL Gene:

NEBL

SOURCE GeneReport for Unigene cluster for NEBL Gene:

Hs.5025

mRNA Expression by UniProt/SwissProt for NEBL Gene:

O76041-NEBL_HUMAN
Tissue specificity: Abundantly expressed in cardiac muscle, but not in skeletal or smooth muscle. Localized to Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such as in fibroblasts.
genes like me logo Genes that share expression patterns with NEBL: view

Primer Products

No data available for Protein tissue co-expression partners for NEBL Gene

Orthologs for NEBL Gene

This gene was present in the common ancestor of animals.

Orthologs for NEBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEBL 34 35
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia NEBL 34 35
  • 90.65 (n)
dog
(Canis familiaris)
Mammalia NEBL 34 35
  • 90.16 (n)
rat
(Rattus norvegicus)
Mammalia Nebl 34
  • 85.17 (n)
oppossum
(Monodelphis domestica)
Mammalia NEBL 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEBL 35
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nebl 35
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LASP-2 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEBL 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nebl 34
  • 71.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12109 34
zebrafish
(Danio rerio)
Actinopterygii nebl 35
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F42H10.3 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
OneToMany
Species where no ortholog for NEBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 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)

Evolution for NEBL Gene

ENSEMBL:
Gene Tree for NEBL (if available)
TreeFam:
Gene Tree for NEBL (if available)

Paralogs for NEBL Gene

Paralogs for NEBL Gene

(5) SIMAP similar genes for NEBL Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for NEBL Gene

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

Variants for NEBL Gene

Sequence variations from dbSNP and Humsavar for NEBL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs138932199 Likely benign 20,840,808(+) ATTCC(C/T)TTCCC intron-variant, nc-transcript-variant, reference, synonymous-codon
rs141153708 Likely benign 20,869,833(+) TTCCT(A/G)TAAGA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs143930021 Likely benign 20,812,805(+) CACGA(C/T)GTGAG nc-transcript-variant, reference, missense
rs146218038 Likely benign 20,819,425(+) TTGCC(A/G)CACTC intron-variant, nc-transcript-variant, reference, missense
rs146673676 Likely benign 20,808,547(+) CAGCA(A/T)GAAAA intron-variant, nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv193e212 CNV loss 25503493
esv2520573 CNV insertion 19546169
esv2675077 CNV deletion 23128226
esv3331302 CNV insertion 20981092
esv3331888 CNV insertion 20981092
esv3440738 CNV insertion 20981092
esv3447923 CNV insertion 20981092
esv3578712 CNV loss 25503493
esv3622565 CNV loss 21293372
esv3622566 CNV loss 21293372
esv3622567 CNV loss 21293372
esv3622568 CNV loss 21293372
esv3622571 CNV gain 21293372
nsv1051096 CNV gain 25217958
nsv1119787 CNV deletion 24896259
nsv472153 CNV novel sequence insertion 20440878
nsv474201 CNV novel sequence insertion 20440878
nsv477171 CNV novel sequence insertion 20440878
nsv507543 OTHER sequence alteration 20534489
nsv508573 CNV deletion 20534489
nsv825283 CNV loss 20364138
nsv831806 CNV gain 17160897
nsv947763 CNV duplication 23825009
nsv947764 CNV duplication 23825009

Variation tolerance for NEBL Gene

Residual Variation Intolerance Score: 62.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.45; 88.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEBL Gene

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

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

Disorders for NEBL Gene

MalaCards: The human disease database

(2) MalaCards diseases for NEBL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
endocardial fibroelastosis
  • elastomyofibrosis
dilated cardiomyopathy
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards
Search NEBL in MalaCards View complete list of genes associated with diseases

Relevant External Links for NEBL

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

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

Publications for NEBL Gene

  1. Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. (PMID: 11140941) Arimura T. … Kimura A. (Hum. Genet. 2000) 3 4 22 46 64
  2. Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains. (PMID: 10470015) Moncman C.L. … Wang K. (Cell Motil. Cytoskeleton 1999) 2 3 4 64
  3. Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. (PMID: 9733644) Millevoi S. … Labeit S. (J. Mol. Biol. 1998) 2 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for NEBL Gene

Sources for NEBL Gene

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