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    EMD emerin [ Homo sapiens (human) ]

    Gene ID: 2010, updated on 22-May-2013
    Official Symbol
    EMDprovided by HGNC
    Official Full Name
    emerinprovided by HGNC
    Primary source
    HGNC:3331
    Locus tag
    XX-FW88778H2.1
    See related
    Ensembl:ENSG00000102119; HPRD:02309; MIM:300384; Vega:OTTHUMG00000033186
    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]
    Location :
    Xq28
    Sequence :
    Chromosome: X; NC_000023.10 (153607597..153609883)
    See EMD in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene transketolase-like 1 Neighboring gene filamin A, alpha Neighboring gene deoxyribonuclease I-like 1 Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ribosomal protein L10 Neighboring gene tafazzin

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. Foster MW, et al. Nitric Oxide, 2013 Feb 21. PMID 23438482.
    2. Identification of the hypoxia-inducible factor 2α nuclear interactome in melanoma cells reveals master proteins involved in melanoma development. Steunou AL, et al. Mol Cell Proteomics, 2013 Mar. PMID 23275444.
    3. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    4. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. Aichem A, et al. J Cell Sci, 2012 Oct 1. PMID 22797925.

    See all (111) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Genetic testing identified the mutation in the EMD gene, confirming X-linked recessive (XR) EDMD. The patient's asymptomatic mother was confirmed as a carrier.
      Title: Emery-Dreifuss humeroperoneal muscular dystrophy: cardiac manifestations.
    2. Data augment the number of EMD mutations by 13.8%, equating to an increase of 5.2% in the total known EMD mutations and to an increase of 6.0% in the number of different mutations.
      Title: Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
    3. Data provide evidence that 4.1R has functional interactions with emerin and A-type lamin that impact upon nuclear architecture, centrosome-nuclear envelope association and the regulation of beta-catenin transcriptional co-activator activity.
      Title: Structural protein 4.1R is integrally involved in nuclear envelope protein localization, centrosome-nucleus association and transcriptional signaling.
    4. An association of Mel18 with emerin was observed in Hutchinson-Gilford progeria syndrome, but not in WT cells.
      Title: Association of progerin-interactive partner proteins with lamina proteins: Mel18 is associated with emerin in HGPS.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. Observational study of genetic testing. (HuGE Navigator)
      Title: A novel custom resequencing array for dilated cardiomyopathy.
    8. BAF and emerin have dynamic roles in genome integrity and might help couple DNA damage responses to the nuclear lamina network
      Title: Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners.
    9. Certain patients presenting a typical EDMD phenotype in which no mutations in the EMD or LMNA genes can be confirmed. This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes.
      Title: Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
    10. These findings suggest roles for emerin as a downstream effector and signal integrator for tyrosine kinase signaling pathway(s) at the nuclear envelope.
      Title: Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases.
    Submit: New GeneRIF Correction See all (44)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Emery-Dreifuss muscular dystrophy 1, X-linked

    Summary from GeneReviews: Emery-Dreifuss Muscular Dystrophy Go to GeneReviews

    Disease Characteristics
    Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade.
    Diagnosis Testing
    The three genes in which mutations are known to cause EDMD are EMD (encoding emerin) and FHL1 (encoding FHL1), which cause X-linked EDMD (XL-EDMD); and LMNA (encoding lamin A and C), which causes autosomal dominant EDMD (AD-EDMD) and autosomal recessive EDMD (AR-EDMD). For all forms of EDMD the diagnosis is based on clinical findings and family history. The diagnosis of X-linked EDMD also relies on failure to detect emerin or FHL1 protein in various tissues and molecular genetic testing of EMD or FHL1. The diagnosis of AD-EDMD and AR-EDMD also relies on molecular genetic testing of LMNA.
    Genetic Counseling
    EDMD is inherited in an X-linked, autosomal dominant, or autosomal recessive manner. XL-EDMD. If the mother of a proband has a disease-causing mutation, the chance of transmitting it in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers. Female carriers are usually asymptomatic, but they are at risk of developing a cardiac disease, progressive muscular dystrophy, and/or an EDMD phenotype. AD-EDMD. 76% of probands with AD-EDMD have a de novo LMNA mutation. Each child of an individual with AD-EDMD has a 50% chance of inheriting the mutation. AR-EDMD. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being neither affected nor a carrier. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation has been identified in a family member.
    References
    Protein Gene Interaction Pubs
    Tat, p14 tat Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed
    pol 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 Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000108.1 NP_003851.1 BANF1    BIND  PubMed Emerin interacts with BAF. 
    P50402 P60709 ACTB    HPRD  PubMed  
    P50402 Q9ULX6 AKAP8L    HPRD  PubMed  
    P50402 O75531 BANF1    HPRD  PubMed  
    P50402 Q9NYF8 BCLAF1    HPRD  PubMed  
    P50402 Q8N7W2 BEND7    HPRD  PubMed  
    P50402 Q7L5N1 COPS6    HPRD  PubMed  
    P50402 O43889 CREB3    HPRD  PubMed  
    P50402 Q9NSA3 CTNNBIP1    HPRD  PubMed  
    P50402 Q7L190 DPPA4    HPRD  PubMed  
    P50402 Q969F0 FATE1    HPRD  PubMed  
    P50402 Q96IK5 GMCL1    HPRD  PubMed  
    P50402 P02545 LMNA    HPRD  PubMed  
    P50402 Q99962 SH3GL2    HPRD  PubMed  
    P50402 Q99963 SH3GL3    HPRD  PubMed  
    P50402 Q8NF91 SYNE1    HPRD  PubMed  
    P50402 Q96MU7 YTHDC1    HPRD  PubMed  
    BioGRID:108325 BioGRID:106575 ACTB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:106587 ACTG2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108325 BioGRID:116967 ADNP    BioGRID  PubMed Co-fractionation 
    BioGRID:108325 BioGRID:128178 AGO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:117940 AKAP8L    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:203547 Aurkb    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:114342 BANF1    BioGRID  PubMed Affinity Capture-MS; Far Western; Reconstituted Complex 
    BioGRID:108325 BioGRID:121161 BCCIP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115118 BCLAF1    BioGRID  PubMed Far Western; Protein-peptide; Two-hybrid 
    BioGRID:108325 BioGRID:128797 BEND7    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:107169 C1QBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:116312 CDC37    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:107506 CFTR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:107533 CHD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:107666 CNN3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:116176 COPS6    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:115751 CREB3    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:107880 CTNNB1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108325 BioGRID:114031 CUL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:108010 DDB2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:113649 DDX39B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:108025 DHX9    BioGRID  PubMed Co-fractionation 
    BioGRID:108325 BioGRID:120507 DPPA4    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:124181 DPY30    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:108270 EGF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:108276 EGFR    BioGRID  PubMed Co-fractionation; Co-localization 
    BioGRID:108325 BioGRID:108348 EPAS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:108403 ESR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:108488 FASN    BioGRID  PubMed Co-fractionation 
    BioGRID:108325 BioGRID:124636 FATE1    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:122669 FYCO1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115448 G3BP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:122152 GMCL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108325 BioGRID:1173723 GSN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108325 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:114368 HDAC3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108325 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:109318 HDGF    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:109431 HNRNPK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:109433 HNRNPU    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115015 IQCB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:109954 KCND3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:110186 LMNA    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108325 BioGRID:110187 LMNB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108325 BioGRID:110193 LMO7    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108325 BioGRID:110205 LPL    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:121778 LSM2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:111583 MAPK6    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:110339 MCM2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:110341 MCM4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:110343 MCM6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115014 MDC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:118849 MED4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:110712 MYH9    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:110725 MYO1C    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108325 BioGRID:110727 MYO1E    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:119679 NAA38    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:114973 NCOR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:110906 NOS2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:116625 PAXIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:113497 PCGF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108325 BioGRID:118098 PDCD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:111692 PSME1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108325 BioGRID:111868 RBL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:116796 RCOR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:122735 SAP130    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115573 SAP18    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:112353 SH3GL2    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:112354 SH3GL3    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:123136 SIKE1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:112482 SMARCB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:112483 SMARCC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:112485 SMARCC2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:120528 SMU1    BioGRID  PubMed Co-fractionation 
    BioGRID:108325 BioGRID:112587 SPTAN1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108325 BioGRID:112619 SSB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:116928 SYNE1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108325 BioGRID:112770 TBL1X    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108325 BioGRID:122834 TBL1XR1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108325 BioGRID:112923 THRA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115457 TRIM28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:115791 UBD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:113252 VAV1    BioGRID  PubMed Two-hybrid 
    BioGRID:108325 BioGRID:113255 VCAM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:124871 YTHDC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108325 BioGRID:113361 YWHAB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:113363 YWHAE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:114802 ZRANB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108325 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
      Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystem (from REACTOME)
      Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystemIn mitotic prophase, chromatin detaches from the nuclear envelope, and this contributes to the nuclear envelope breakdown. VRK1 (and possibly VRK2) mediated phosphorylation of BANF1 (BAF), a protein ...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
      Initiation of Nuclear Envelope Reformation, organism-specific biosystemReassembly of the nuclear envelope is initiated at late anaphase/early telophase when BANF1 (BAF) accumulates on the decondensing chromosome mass close to the spindle ('core' region), together with E...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
    • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
    • Mitotic Prophase, organism-specific biosystem (from REACTOME)
      Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
    • Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
      Nuclear Envelope Breakdown, organism-specific biosystemThe nuclear envelope breakdown (NEBD) happens in late prophase of mitosis and involves disassembly of the nuclear pore complex, depolymerization of the nuclear lamina, and clearance of nuclear envelo...
    • Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
      Nuclear Envelope Reassembly, organism-specific biosystemThe reassembly of the nuclear envelope (NE) around separated sister chromatids begins in late anaphase and is completed in telophase. Nuclear pore complexes (NPCs) reassemble and insert into the refo...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    M phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    cellular response to growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    mitotic anaphase TAS
    Traceable Author Statement
    more info
    		  
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    mitotic nuclear envelope disassembly TAS
    Traceable Author Statement
    more info
    		  
    mitotic nuclear envelope reassembly TAS
    Traceable Author Statement
    more info
    		  
    mitotic prophase TAS
    Traceable Author Statement
    more info
    		  
    muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    negative regulation of catenin import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of protein export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    regulation of canonical Wnt receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		  
    nuclear envelope TAS
    Traceable Author Statement
    more info
    		  
    nuclear inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    emerin
    Names
    emerin
    LEM domain containing 5

    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)

    mRNA and Protein(s)

    1. NM_000117.2 → NP_000108.1  emerin

      Status: REVIEWED

      Source sequence(s)
      BC000738, CX781694
      Consensus CDS
      CCDS14745.1
      UniProtKB/Swiss-Prot
      P50402
      Related
      ENSP00000358857, OTTHUMP00000031938, ENST00000369842, OTTHUMT00000080921
      Conserved Domains (1) summary
      pfam03020
      Location:2 – 44
      Blast Score: 173
      LEM; LEM domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003871103.2 Reference GRCh37.p10 PATCHES

      Range
      1852358..1854644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p10 Primary Assembly

      Range
      153607597..153609883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      142185074..142187360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018934.1 Alternate CHM1_1.0

      Range
      153475864..153478150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01045290.1 (3815..6101) None
    genomic AC245140.2 (39425..41711) None
    genomic AMYH01023315.1 (161574..163860) None
    genomic BX936346.4 (20061..22347) None
    genomic CH471172.2 EAW72742.1
      EAW72743.1
    genomic D64111.1 BAA10972.1
    genomic L44140.1 AAA92645.1
    genomic X86810.1 CAA60500.1
    mRNA BC000738.2 AAH00738.1
    mRNA BT007401.1 AAP36065.1
    mRNA CR536536.1 CAG38773.1
    mRNA CX781694.1 None
    mRNA X82434.1 CAA57817.1
    other-genetic AM393723.1 CAL38599.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50402.1 GenPept UniProtKB/Swiss-Prot:P50402

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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