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    emd emerin [ Danio rerio (zebrafish) ]

    Gene ID: 558212, updated on 27-Mar-2024

    Summary

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    Official Symbol
    emdprovided by ZNC
    Official Full Name
    emerinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-070501-2
    See related
    Ensembl:ENSDARG00000095774 AllianceGenome:ZFIN:ZDB-GENE-070501-2
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Summary
    Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in heart. Human ortholog(s) of this gene implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy. Orthologous to human EMD (emerin). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    all
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    Genomic context

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    Location:
    chromosome: 23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    106 current GRCz11 (GCF_000002035.6) 23 NC_007134.7 (19813673..19822229)
    105 previous assembly GRCz10 (GCF_000002035.5) 23 NC_007134.6 (19887332..19895883)

    Chromosome 23 - NC_007134.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10 Neighboring gene filamin A, alpha (actin binding protein 280) Neighboring gene si:dkey-93l1.9 Neighboring gene HAUS augmin-like complex, subunit 7 Neighboring gene ATPase plasma membrane Ca2+ transporting 3b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases. Hayashi K, et al. Cardiovasc Res, 2020 Nov 1. PMID 31977013, Free PMC Article
    2. Zebrafish orthologs of human muscular dystrophy genes. Steffen LS, et al. BMC Genomics, 2007 Mar 20. PMID 17374169, Free PMC Article
    3. Cardiac transcriptome and dilated cardiomyopathy genes in zebrafish. Shih YH, et al. Circ Cardiovasc Genet, 2015 Apr. PMID 25583992, Free PMC Article
    4. Evolution of complexity in the zebrafish synapse proteome. Bayés À, et al. Nat Commun, 2017 Mar 2. PMID 28252024, Free PMC Article
    5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Process Evidence Code Pubs
    acts_upstream_of_or_within cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    emerin (Emery-Dreifuss muscular dystrophy); emerin

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001386483.1 → NP_001373412.1  emerin (Emery-Dreifuss muscular dystrophy) isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      CR352234
      UniProtKB/TrEMBL
      A0A8M9PG38, A0A8M9PWT2, E9QIK0
      Conserved Domains (1) summary
      cl02649
      Location:4 → 46
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

    2. NM_001386484.1 → NP_001373413.1  emerin (Emery-Dreifuss muscular dystrophy) isoform 2

      Status: VALIDATED

      Source sequence(s)
      CR352234
      UniProtKB/TrEMBL
      A0A8M2B902, A0A8M9Q7T6, E9QFP7
      Conserved Domains (1) summary
      cl02649
      Location:4 → 46
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

    RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007134.7 Reference GRCz11 Primary Assembly

      Range
      19813673..19822229
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_001924011.6 → XP_001924046.1  emerin isoform X1

      UniProtKB/TrEMBL
      E9QIK0
      Related
      ENSDARP00000117124.2, ENSDART00000139192.4
      Conserved Domains (1) summary
      cl02649
      Location:4 → 46
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

    2. XM_005162117.4 → XP_005162174.1  emerin isoform X2

      UniProtKB/TrEMBL
      E9QFP7
      Related
      ENSDARP00000119205.2, ENSDART00000142308.3
      Conserved Domains (1) summary
      cl02649
      Location:4 → 46
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018395142.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      141636..148981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021473619.1 → XP_021329294.1  emerin isoform X1

    2. XM_021473620.1 → XP_021329295.1  emerin isoform X2

    Reference GRCz11 ALT_DRER_TU_2

    Genomic

    1. NW_018395361.1 Reference GRCz11 ALT_DRER_TU_2

      Range
      358112..366668
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021474527.1 → XP_021330202.1  emerin isoform X1

      Conserved Domains (1) summary
      cl02649
      Location:4 → 46
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins

    2. XM_021474528.1 → XP_021330203.1  emerin isoform X2

      Conserved Domains (1) summary
      cl02649
      Location:4 → 46
      LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version

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