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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
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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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