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 comp... See more...

Aliases for NEBL Gene

Aliases for NEBL Gene

  • Nebulette 2 3 4 5
  • LNEBL 2 3 4
  • Actin-Binding Z-Disk Protein 3 4
  • LIM And SH3 Protein 2 2 3
  • LIM-Nebulette 2 3
  • BA165O3.1 2 3
  • LASP2 2 3
  • Chromosome 10 Open Reading Frame 113 2
  • C10orf113 3
  • NEBL 5

External Ids for NEBL Gene

Previous HGNC Symbols for NEBL Gene

  • C10orf113

Previous GeneCards Identifiers for NEBL Gene

  • GC10M020805
  • 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. 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 Summary 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).

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

Genomics for NEBL Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH10J021289 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.5 537 6.7 ZNF600 ATF2 ZNF10 POLR2A BCL11A FEZF1 ZNF639 ZEB1 MAX EP300 HSALNG0076574 NEBL lnc-MLLT10-8 RNU6-15P MLLT10 RF00017-547
GH10J021172 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.1 +118.8 118787 3.7 ZNF600 ZIC2 ZBTB10 YY1 FOXA1 ZNF639 TBP ZNF341 KLF7 ZBTB7B NEBL-AS1 lnc-C10orf113-2 NEBL HSALNG0076569
GH10J021372 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 250.2 -80.0 -79998 1.1 ZNF600 ZIC2 KLF7 IRF2 KLF9 PRDM1 SP2 ZFP91 BHLHE40 SP1 LINC02643 piR-55110-013 NEBL RNU6-15P piR-61053-002 MLLT10
GH10J020892 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 250 +398.3 398321 5.3 ATF2 ZNF366 ATF7 CREB1 ZNF121 CEBPG NEBL C10orf113 HSALNG0076562 lnc-PLXDC2-10
GH10J021208 Enhancer 1 Ensembl ENCODE 45.1 +83.6 83649 2.4 IKZF1 NCOR1 ZNF592 NFIC MNT ARNT MAFF TAL1 ZNF316 NFE2 NEBL MLLT10 lnc-MLLT10-5 HSALNG0076569
- 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 the GeneHancer Hub at the UCSC Golden Path

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

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

Genomic Locations for NEBL Gene

Latest Assembly
chr10:20,779,973-21,293,050
(GRCh38/hg38)
Size:
513,078 bases
Orientation:
Minus strand

Previous Assembly
chr10:21,068,902-21,581,979
(GRCh37/hg19 by Entrez Gene)
Size:
513,078 bases
Orientation:
Minus strand

chr10:21,068,902-21,463,116
(GRCh37/hg19 by Ensembl)
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).
    Miscellaneous:
    • [Isoform 2]: Expressed in non-muscle cells. May be transcribed from an upstream promoter active in non-muscle cells.

    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

InterPro:
Blocks:
  • SH3 domain signature

Suggested Antigen Peptide Sequences for NEBL Gene

GenScript: Design optimal peptide antigens:
  • Nebulette variant 4 (B0YJ47_HUMAN)
  • cDNA FLJ53769, highly similar to Homo sapiens nebulette (NEBL), transcript variant 2, mRNA (B4DH47_HUMAN)
  • Actin-binding Z-disk protein (NEBL_HUMAN)
  • NEBL protein (Q2TBD1_HUMAN)
  • cDNA FLJ50100, highly similar to Homo sapiens nebulette (NEBL), transcript variant 2, mRNA (Q70I54_HUMAN)
genes like me logo Genes that share domains with NEBL: view

No data available for Graphical View of Domain Structure and 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

Inhibitory RNAs for research

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

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
cytoskeleton 5
extracellular 4
cytosol 4
nucleus 3
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

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 IBA,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

PathCards logo

SuperPathways for NEBL Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048747 muscle fiber development IBA 21873635
GO:0071691 cardiac muscle thin filament assembly IBA,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

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

Inhibitory RNAs for research

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

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

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, MaxQB, and MOPED for NEBL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Heart(4.8)
  • Muscle(4.7)
  • Lung(2.7)
  • Skin(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with NEBL: view

Primer products for research

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 29 30
  • 99.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NEBL 29 30
  • 90.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NEBL 29 30
  • 90.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nebl 29
  • 85.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia NEBL 30
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NEBL 30
  • 80 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Nebl 30
  • 34 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves LASP-2 30
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NEBL 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nebl 29
  • 71.01 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12109 29
Zebrafish
(Danio rerio)
Actinopterygii nebl 30
  • 28 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F42H10.3 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
OneToMany
Species where no ortholog for NEBL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for NEBL

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEBL Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1001083 Uncertain Significance: Primary dilated cardiomyopathy 20,812,897(-) A/G
NM_006393.3(NEBL):c.2390T>C (p.Phe797Ser)
MISSENSE
1002080 Uncertain Significance: Primary dilated cardiomyopathy 20,845,288(-) A/C
NM_006393.3(NEBL):c.1197T>G (p.His399Gln)
MISSENSE_VARIANT,INTRON
1004283 Uncertain Significance: Primary dilated cardiomyopathy 20,812,763(-) G/C
NM_006393.3(NEBL):c.2518+6C>G
INTRON
1005023 Uncertain Significance: Primary dilated cardiomyopathy 20,880,840(-) G/A
NM_006393.3(NEBL):c.434C>T (p.Pro145Leu)
MISSENSE_VARIANT,INTRON
1005740 Uncertain Significance: Primary dilated cardiomyopathy 20,888,141(-) T/C
NM_006393.3(NEBL):c.325A>G (p.Ile109Val)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NEBL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
NEBL

SNP Genotyping and Copy Number Assays for research

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

Disorders for NEBL Gene

MalaCards: The human disease database

(10) MalaCards diseases for NEBL Gene - From: CVR, ORP, COP, and GCD

- 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 40
  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
  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
  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
  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 40

Products for NEBL Gene

Sources for NEBL Gene