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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 Familial Isolated Dilated Cardiomyopathy. Gene Ontology (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. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028).

Additional gene information for NEBL Gene

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

Genomics for NEBL Gene

GeneHancer (GH) Regulatory Elements for NEBL Gene

Promoters and enhancers for NEBL 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
GH10J021172 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 650.7 -0.2 -214 3.5 HDGF PKNOX1 FOXA2 SIN3A GLI4 ZNF2 ZBTB7B YY1 GLIS2 ZFP91 NEBL-AS1 NEBL ENSG00000228860
GH10J021289 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.1 -118.3 -118326 6.7 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 ATF7 SP3 REST TSHZ1 MAFF NEBL RNU6-15P MLLT10 GC10P021323 LUZP4P1
GH10J021372 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 650.1 -198.9 -198861 1.1 MZF1 YY1 ZNF335 ZNF366 ZNF350 ZFP91 KLF7 SP3 YY2 REST LOC105376444 GC10M021362 NEBL RNU6-15P
GH10J020897 Promoter 0.5 EPDnew 650.1 +276.9 276856 0.1 NEBL C10orf113 LOC102725112 EIF4BP2
GH10J021173 Enhancer 0.4 ENCODE 650.7 +1.9 1880 0.2 MNT FOXA1 NEBL-AS1 NEBL C10orf113
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEBL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NEBL gene promoter:
  • FOXO4
  • STAT5B
  • SRY
  • POU6F1 (c2)
  • SRF
  • SRF (504 AA)
  • Cart-1
  • TBP

Genomic Locations for NEBL Gene

Genomic Locations for NEBL Gene
chr10:20,779,971-21,174,187
(GRCh38/hg38)
Size:
394,217 bases
Orientation:
Minus strand
chr10:21,068,902-21,463,116
(GRCh37/hg19)
Size:
394,215 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) (PubMed:15004028). Interacts (via nebulin repeats 1-5) with DESM (via rod region) (PubMed:27733623).

    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

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

Protein Domains for NEBL Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028).

Phenotypes From GWAS Catalog for NEBL Gene

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

Human Phenotype Ontology for NEBL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 HDA 19056867
genes like me logo Genes that share ontologies with NEBL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NEBL Gene

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

Drugs & Compounds for NEBL Gene

No Compound Related Data Available

Transcripts for NEBL Gene

mRNA/cDNA for NEBL Gene

Unigene Clusters for NEBL Gene

Nebulette:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for NEBL Gene

  • Nervous system(4.8)
  • Heart(4.7)
  • Muscle(4.6)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with NEBL: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEBL 34 33
  • 90.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEBL 34 33
  • 90.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nebl 33
  • 85.17 (n)
oppossum
(Monodelphis domestica)
Mammalia NEBL 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEBL 34
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nebl 34
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LASP-2 34
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEBL 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nebl 33
  • 71.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12109 33
zebrafish
(Danio rerio)
Actinopterygii nebl 34
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F42H10.3 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NEBL: view image

Paralogs for NEBL Gene

Paralogs for NEBL Gene

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

  • NEBL_HUMAN
  • B0YJ47_HUMAN
  • B4DH47_HUMAN
  • Q2TBD1_HUMAN
  • Q5JUU7_HUMAN
  • Q5JUU8_HUMAN

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 Variation AA Info Type
rs1037792824 uncertain-significance, Primary dilated cardiomyopathy 20,859,796(-) T/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1060503679 uncertain-significance, Primary dilated cardiomyopathy 20,819,438(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1060503680 uncertain-significance, Primary dilated cardiomyopathy 20,828,610(-) T/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1060503681 uncertain-significance, Primary dilated cardiomyopathy 20,812,896(-) A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1060504994 likely-benign, Primary dilated cardiomyopathy 20,787,223(-) T/A 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

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)

Additional Variant Information for NEBL Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NEBL Gene

MalaCards: The human disease database

(3) MalaCards diseases for NEBL Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
endocardial fibroelastosis
  • efe
familial isolated dilated cardiomyopathy
  • familial or idiopathic dilated cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards
Search NEBL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEBL

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 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 (Human genetics 2000) 3 4 22 44 58
  2. Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains. (PMID: 10470015) Moncman CL … Wang K (Cell motility and the cytoskeleton 1999) 2 3 4 58
  3. Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. (PMID: 9733644) Millevoi S … Labeit S (Journal of molecular biology 1998) 2 3 4 58
  4. Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts. (PMID: 27733623) Hernandez DA … Conover GM (Molecular biology of the cell 2016) 3 4 58
  5. 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 44 58

Products for NEBL Gene

Sources for NEBL Gene

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