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    MYEF2 myelin expression factor 2 [ Homo sapiens (human) ]

    Gene ID: 50804, updated on 3-Apr-2024

    Summary

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    Official Symbol
    MYEF2provided by HGNC
    Official Full Name
    myelin expression factor 2provided by HGNC
    Primary source
    HGNC:HGNC:17940
    See related
    Ensembl:ENSG00000104177 MIM:619395; AllianceGenome:HGNC:17940
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEF-2; MST156; myEF-2; MSTP156; HsT18564
    Summary
    Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 7.4), testis (RPKM 5.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYEF2 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (48134632..48178295, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (45942725..45986393, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (48426829..48470492, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900354 Neighboring gene uncharacterized LOC107984792 Neighboring gene uncharacterized LOC105370805 Neighboring gene NANOG hESC enhancer GRCh37_chr15:48304383-48304897 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:48324991-48326190 Neighboring gene uncharacterized LOC124903485 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:48442018-48442582 Neighboring gene solute carrier family 24 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6413 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:48470436-48471087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:48483866-48484369 Neighboring gene CTXN2 antisense RNA 1 Neighboring gene cortexin 2 Neighboring gene uncharacterized LOC128966560 Neighboring gene solute carrier family 12 member 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Expression and function of myelin expression factor 2 in hepatocellular carcinoma. Zhang P, et al. BMC Gastroenterol, 2023 Jan 19. PMID 36658471, Free PMC Article
    2. Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation. Mishra A, et al. J Invest Dermatol, 2017 Mar. PMID 27866970
    3. What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude? Malone SM, et al. Int J Psychophysiol, 2017 May. PMID 27871913, Free PMC Article
    4. RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing. Lee KS, et al. J Biol Chem, 2010 Oct 29. PMID 20709755, Free PMC Article
    5. Exercise and myocyte enhancer factor 2 regulation in human skeletal muscle. McGee SL, et al. Diabetes, 2004 May. PMID 15111488

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression and function of myelin expression factor 2 in hepatocellular carcinoma.
      Title: Expression and function of myelin expression factor 2 in hepatocellular carcinoma.
    2. This study demonstrated that none of the associations between time-frequency phenotypes and MYEF2 were significant.
      Title: What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude?
    3. both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians
      Title: Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation.
    4. RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing
      Title: RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of myelin expression factor 2 (MYEF2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11213, KIAA1341, MGC87325

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in myotube differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in neuron differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    myelin expression factor 2
    Names
    myelin gene expression factor 2

    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_001301210.2 → NP_001288139.2  myelin expression factor 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC066612, AC090526, KF456039
      Consensus CDS
      CCDS73722.1
      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
      UniProtKB/TrEMBL
      A0A0A0MQW0
      Related
      ENSP00000267836.6, ENST00000267836.10
      Conserved Domains (4) summary
      TIGR01628
      Location:124 → 572
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12386
      Location:235 → 308
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12658
      Location:101 → 176
      RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)
      cd12662
      Location:500 → 576
      RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)

    2. NM_016132.5 → NP_057216.3  myelin expression factor 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC066612, AC090526, KF456039
      Consensus CDS
      CCDS32230.1
      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
      UniProtKB/TrEMBL
      A0A0A0MR39
      Related
      ENSP00000316950.7, ENST00000324324.12
      Conserved Domains (4) summary
      cd12386
      Location:235 → 308
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12658
      Location:101 → 176
      RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)
      cd12662
      Location:524 → 600
      RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)
      cl25887
      Location:124 → 596
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

    RNA

    1. NR_125408.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' region, and also lacks several 3' exons but includes an alternate 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC066612, AC090526
      Related
      ENST00000561351.5

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      48134632..48178295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022287.2 → XP_016877776.1  myelin expression factor 2 isoform X6

      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

    2. XM_005254424.5 → XP_005254481.2  myelin expression factor 2 isoform X2

      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
      Conserved Domains (4) summary
      TIGR01628
      Location:124 → 555
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12386
      Location:235 → 308
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12658
      Location:101 → 176
      RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)
      cd12662
      Location:483 → 559
      RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)

    3. XM_017022285.2 → XP_016877774.1  myelin expression factor 2 isoform X4

      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

    4. XM_005254422.5 → XP_005254479.2  myelin expression factor 2 isoform X1

      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
      Conserved Domains (4) summary
      TIGR01628
      Location:124 → 579
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      cd12386
      Location:235 → 308
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12658
      Location:101 → 176
      RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)
      cd12662
      Location:507 → 583
      RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)

    5. XM_017022286.2 → XP_016877775.1  myelin expression factor 2 isoform X5

      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5

    6. XM_005254425.5 → XP_005254482.2  myelin expression factor 2 isoform X3

      UniProtKB/Swiss-Prot
      A7MCZ9, C9J921, C9K0J4, Q6NUM5, Q7L388, Q7Z4B7, Q9H922, Q9NUQ1, Q9P2K5
      Conserved Domains (2) summary
      cd12386
      Location:235 → 308
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12658
      Location:101 → 176
      RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)

    7. XM_047432635.1 → XP_047288591.1  myelin expression factor 2 isoform X7

    8. XM_047432636.1 → XP_047288592.1  myelin expression factor 2 isoform X9

    9. XM_011521657.3 → XP_011519959.1  myelin expression factor 2 isoform X8

      Conserved Domains (3) summary
      COG0724
      Location:334 → 436
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12386
      Location:71 → 144
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12662
      Location:360 → 436
      RRM3_MYEF2; RNA recognition motif 3 in vertebrate myelin expression factor 2 (MEF-2)

    10. XM_005254427.5 → XP_005254484.1  myelin expression factor 2 isoform X10

      Conserved Domains (2) summary
      cd12386
      Location:235 → 308
      RRM2_hnRNPM_like; RNA recognition motif 2 in heterogeneous nuclear ribonucleoprotein M (hnRNP M) and similar proteins
      cd12658
      Location:101 → 176
      RRM1_MYEF2; RNA recognition motif 1 in vertebrate myelin expression factor 2 (MEF-2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      45942725..45986393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378132.1 → XP_054234107.1  myelin expression factor 2 isoform X6

    2. XM_054378128.1 → XP_054234103.1  myelin expression factor 2 isoform X2

    3. XM_054378130.1 → XP_054234105.1  myelin expression factor 2 isoform X4

    4. XM_054378127.1 → XP_054234102.1  myelin expression factor 2 isoform X1

    5. XM_054378131.1 → XP_054234106.1  myelin expression factor 2 isoform X5

    6. XM_054378129.1 → XP_054234104.1  myelin expression factor 2 isoform X3

    7. XM_054378133.1 → XP_054234108.1  myelin expression factor 2 isoform X7

    8. XM_054378135.1 → XP_054234110.1  myelin expression factor 2 isoform X9

    9. XM_054378134.1 → XP_054234109.1  myelin expression factor 2 isoform X8

    10. XM_054378136.1 → XP_054234111.1  myelin expression factor 2 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2K5.3 GenPept UniProtKB/Swiss-Prot:Q9P2K5

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