U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    NEBL nebulette [ Homo sapiens (human) ]

    Gene ID: 10529, updated on 5-May-2024

    Summary

    Official Symbol
    NEBLprovided by HGNC
    Official Full Name
    nebuletteprovided by HGNC
    Primary source
    HGNC:HGNC:16932
    See related
    Ensembl:ENSG00000078114 MIM:605491; AllianceGenome:HGNC:16932
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LASP2; LNEBL; C10orf113; bA165O3.1
    Summary
    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]
    Expression
    Biased expression in heart (RPKM 103.7), thyroid (RPKM 26.9) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    10p12.31
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (20779973..21293050, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (20798520..21311782, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (21068902..21581979, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376442 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:20885982-20886482 Neighboring gene microRNA 4675 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:21045700-21046232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:21046233-21046763 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:21105746-21106945 Neighboring gene uncharacterized LOC102725112 Neighboring gene MT-ND1 pseudogene 21 Neighboring gene Sharpr-MPRA regulatory region 670 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11562 Neighboring gene uncharacterized LOC124902389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3119 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21322529-21322705 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21373491-21373644 Neighboring gene Sharpr-MPRA regulatory region 12489 Neighboring gene NANOG hESC enhancer GRCh37_chr10:21448091-21448641 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:21449895-21450799 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:21450800-21451703 Neighboring gene nucleophosmin 1 pseudogene 30 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21462498-21463388 Neighboring gene Sharpr-MPRA regulatory region 12641 Neighboring gene NEBL antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3120 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21570748-21571426 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:21571427-21572103 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21574449-21575208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21575969-21576728 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:21581467-21582666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21585759-21586559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3121 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:21598312-21598930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21625535-21626086 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21645067-21645566 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21651599-21652196 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21652197-21652792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21661731-21662232 Neighboring gene RNA, U6 small nuclear 15, pseudogene Neighboring gene long intergenic non-protein coding RNA 2643

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2011-12-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2011-12-21)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    EBI GWAS Catalog
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ53769, MGC119746, MGC119747, MGC176421

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytoskeletal protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cytoskeletal protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables filamin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of muscle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables tropomyosin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in I band NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    nebulette
    Names
    LIM and SH3 protein 2
    LIM-nebulette
    actin-binding Z-disk protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017092.1 RefSeqGene

      Range
      5001..399215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_411

    mRNA and Protein(s)

    1. NM_001173484.2NP_001166955.1  nebulette isoform 3

      See identical proteins and their annotated locations for NP_001166955.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in a frameshift. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AB209311, BC144201, BM973051, DT220372
      UniProtKB/Swiss-Prot
      O76041
      UniProtKB/TrEMBL
      Q59FZ8
      Conserved Domains (2) summary
      smart00227
      Location:98128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:557
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
    2. NM_001377322.1NP_001364251.1  nebulette isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL157398, AL359175, AL731547
      Conserved Domains (4) summary
      smart00227
      Location:98128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:557
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11935
      Location:244301
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:6794
      Nebulin; Nebulin repeat
    3. NM_001377323.1NP_001364252.1  nebulette isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL157398, AL359175, AL731547
      UniProtKB/TrEMBL
      Q8N8M3
      Conserved Domains (4) summary
      smart00227
      Location:82112
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:197254
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:5178
      Nebulin; Nebulin repeat
      cl02475
      Location:841
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    4. NM_001377324.1NP_001364253.1  nebulette isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157398, AL359175, AL731547
      UniProtKB/TrEMBL
      Q8N8M3
      Conserved Domains (3) summary
      smart00227
      Location:79109
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:194251
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      cl02475
      Location:538
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    5. NM_001377325.1NP_001364254.1  nebulette isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL157398, AL359175, AL731547
      UniProtKB/TrEMBL
      Q8N8M3
      Conserved Domains (4) summary
      smart00227
      Location:76106
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:191248
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:4572
      Nebulin; Nebulin repeat
      cl02475
      Location:235
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    6. NM_001377326.1NP_001364255.1  nebulette isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 9 and 10, encodes isoform 8.
      Source sequence(s)
      AL157398, AL359175, AL731547
      UniProtKB/TrEMBL
      Q8N8M3
      Conserved Domains (4) summary
      smart00227
      Location:6292
      NEBU; The Nebulin repeat is present also in Las1
      cl02475
      Location:121
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
      pfam00880
      Location:3158
      Nebulin; Nebulin repeat
      cl17036
      Location:177234
      SH3; Src Homology 3 domain superfamily
    7. NM_001377327.1NP_001364256.1  nebulette isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 8 and 10, encodes isoform 8.
      Source sequence(s)
      AL157398, AL359175, AL731547
      UniProtKB/TrEMBL
      Q8N8M3
      Related
      ENST00000675702.1
      Conserved Domains (4) summary
      smart00227
      Location:6292
      NEBU; The Nebulin repeat is present also in Las1
      cl02475
      Location:121
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
      pfam00880
      Location:3158
      Nebulin; Nebulin repeat
      cl17036
      Location:177234
      SH3; Src Homology 3 domain superfamily
    8. NM_001377328.1NP_001364257.1  nebulette isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 8 and 9, encodes isoform 8.
      Source sequence(s)
      AL157398, AL359175, AL731547
      UniProtKB/TrEMBL
      Q8N8M3
      Related
      ENST00000675700.1
      Conserved Domains (4) summary
      smart00227
      Location:6292
      NEBU; The Nebulin repeat is present also in Las1
      cl02475
      Location:121
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
      pfam00880
      Location:3158
      Nebulin; Nebulin repeat
      cl17036
      Location:177234
      SH3; Src Homology 3 domain superfamily
    9. NM_006393.3NP_006384.1  nebulette isoform 1

      See identical proteins and their annotated locations for NP_006384.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). This isoform (1) is also known as the sarcomeric isoform.
      Source sequence(s)
      AL157398
      Consensus CDS
      CCDS7134.1
      UniProtKB/Swiss-Prot
      B0YJ45, B9EIM9, E9PRX7, O76041, Q2TBD0, Q5VZT2, Q70I54, Q9UIC4
      UniProtKB/TrEMBL
      B0YJ47
      Related
      ENSP00000366326.4, ENST00000377122.9
      Conserved Domains (3) summary
      smart00227
      Location:762791
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:9571014
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      cl26511
      Location:294712
      Neuromodulin_N; Gap junction protein N-terminal region
    10. NM_213569.2NP_998734.1  nebulette isoform 2

      See identical proteins and their annotated locations for NP_998734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. This isoform is referred to as LIM-nebulette or the non-muscle isoform.
      Source sequence(s)
      AB209311, AJ580772, BI522541, BM973051, CR744526
      Consensus CDS
      CCDS7133.1
      UniProtKB/TrEMBL
      Q8N8M3
      Related
      ENSP00000393896.2, ENST00000417816.2
      Conserved Domains (4) summary
      smart00227
      Location:98128
      NEBU; The Nebulin repeat is present also in Las1
      cd09447
      Location:557
      LIM_LASP; The LIM domain of LIM and SH3 Protein (LASP)
      cd11935
      Location:213270
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:6794
      Nebulin; Nebulin repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      20779973..21293050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424444.1XP_047280400.1  nebulette isoform X4

    2. XM_047424443.1XP_047280399.1  nebulette isoform X1

    3. XM_011519291.3XP_011517593.1  nebulette isoform X1

      See identical proteins and their annotated locations for XP_011517593.1

      UniProtKB/TrEMBL
      B0YJ47
      Conserved Domains (3) summary
      smart00227
      Location:587616
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:941998
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:307331
      Nebulin; Nebulin repeat
    4. XM_005252342.6XP_005252399.1  nebulette isoform X2

      UniProtKB/TrEMBL
      B0YJ47
      Conserved Domains (3) summary
      smart00227
      Location:569598
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:923980
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:289313
      Nebulin; Nebulin repeat
    5. XM_005252343.6XP_005252400.1  nebulette isoform X3

      See identical proteins and their annotated locations for XP_005252400.1

      UniProtKB/TrEMBL
      B0YJ47
      Conserved Domains (3) summary
      smart00227
      Location:603632
      NEBU; The Nebulin repeat is present also in Las1
      cd11935
      Location:876933
      SH3_Nebulette_C; C-terminal Src Homology 3 domain of Nebulette and LIM-nebulette (or Lasp2)
      pfam00880
      Location:323347
      Nebulin; Nebulin repeat

    RNA

    1. XR_001746995.3 RNA Sequence

    2. XR_242691.6 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      20798520..21311782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364489.1XP_054220464.1  nebulette isoform X4

    2. XM_054364486.1XP_054220461.1  nebulette isoform X1

    3. XM_054364485.1XP_054220460.1  nebulette isoform X1

    4. XM_054364487.1XP_054220462.1  nebulette isoform X2

    5. XM_054364488.1XP_054220463.1  nebulette isoform X3

    RNA

    1. XR_008488154.1 RNA Sequence

    2. XR_008488155.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010896.2: Suppressed sequence

      Description
      NM_001010896.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    2. NM_001177483.1: Suppressed sequence

      Description
      NM_001177483.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    3. NM_016365.1: Suppressed sequence

      Description
      NM_016365.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.