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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
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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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