U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    EMD emerin [ Homo sapiens (human) ]

    Gene ID: 2010, updated on 7-Apr-2024

    Summary

    Official Symbol
    EMDprovided by HGNC
    Official Full Name
    emerinprovided by HGNC
    Primary source
    HGNC:HGNC:3331
    See related
    Ensembl:ENSG00000102119 MIM:300384; AllianceGenome:HGNC:3331
    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
    STA; EDMD; LEMD5
    Summary
    Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 27.0), ovary (RPKM 26.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EMD in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154379295..154381523)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152610118..152618066)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153607655..153609883)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30055 Neighboring gene Xq28 proximal FLNA-EMD recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30057 Neighboring gene filamin A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153596747-153597274 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153597275-153597800 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21087 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153599383-153599908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153599914-153600555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30059 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153608033-153608612 Neighboring gene Xq28 distal FLNA-EMD recombination region Neighboring gene uncharacterized LOC124905228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21099 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21100 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153626083-153626628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30060 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627173-153627718 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:153627719-153628262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153628263-153628808 Neighboring gene ribosomal protein L10 Neighboring gene small nucleolar RNA, H/ACA box 70

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with EMD PubMed
    Tat tat Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed
    integrase gag-pol Barrier-to-autointegration factor (BAF) is required for the association of viral cDNA with emerin and for chromatin engagement by viral cDNA before integration, indicating potential interactions between BAF, emerin and HIV-1 integrase PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables beta-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in TMEM240-body IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with cortical endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nuclear envelope IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear inner membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with spindle pole centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    emerin
    Names
    LEM domain containing 5

    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_008677.1 RefSeqGene

      Range
      9802..12088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_745

    mRNA and Protein(s)

    1. NM_000117.3NP_000108.1  emerin

      See identical proteins and their annotated locations for NP_000108.1

      Status: REVIEWED

      Source sequence(s)
      BC000738, CX781694
      Consensus CDS
      CCDS14745.1
      UniProtKB/Swiss-Prot
      P50402, Q6FI02
      UniProtKB/TrEMBL
      Q5HY57
      Related
      ENSP00000358857.4, ENST00000369842.9
      Conserved Domains (1) summary
      cd12939
      Location:446
      LEM_emerin; LEM (Lap2/Emerin/Man1) domain found in emerin

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      154379295..154381523
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152610118..152618066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326651.1XP_054182626.1  emerin isoform X1

      UniProtKB/Swiss-Prot
      P50402, Q6FI02
    2. XM_054326650.1XP_054182625.1  emerin isoform X1

      UniProtKB/Swiss-Prot
      P50402, Q6FI02