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Aliases for MYEF2 Gene

Aliases for MYEF2 Gene

  • Myelin Expression Factor 2 2 3 3 5
  • MyEF-2 3 4
  • MST156 3 4
  • MEF-2 3 4
  • Myelin Gene Expression Factor 2 3
  • HsT18564 3
  • KIAA1341 4
  • MSTP156 3

External Ids for MYEF2 Gene

Previous GeneCards Identifiers for MYEF2 Gene

  • GC15M041478
  • GC15M046011
  • GC15M046148
  • GC15M046219
  • GC15M048433
  • GC15M025264
  • GC15M048434

Summaries for MYEF2 Gene

GeneCards Summary for MYEF2 Gene

MYEF2 (Myelin Expression Factor 2) is a Protein Coding gene. Diseases associated with MYEF2 include Albinism, Oculocutaneous, Type Vi and Lung Cancer. Among its related pathways are Physiological and Pathological Hypertrophy of the Heart and MicroRNAs in cardiomyocyte hypertrophy. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is HNRNPM.

UniProtKB/Swiss-Prot for MYEF2 Gene

  • Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5-TTGTCC-3 of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity).

Additional gene information for MYEF2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYEF2 Gene

Genomics for MYEF2 Gene

GeneHancer (GH) Regulatory Elements for MYEF2 Gene

Promoters and enhancers for MYEF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J048176 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.6 646 2.4 RB1 SIN3A ZNF48 YY1 ZNF335 SCRT2 ATF7 IKZF2 SMARCA5 HCFC1 CTXN2 SLC12A1 MYEF2 GC15P048147
GH15J048152 Promoter 0.5 EPDnew 650.3 +26.3 26262 0.1 MYEF2 GC15P048147 CTXN2
GH15J047687 Enhancer 0.2 FANTOM5 1.5 +491.3 491282 0.3 MYEF2 RPL7AP62 LOC105370804 SEMA6D
GH15J048149 Enhancer 0.5 ENCODE 0.3 +28.3 28345 1.9 JUND NANOG JUN MAFK GC15P048147 CTXN2 MYEF2
GH15J048143 Enhancer 0.4 FANTOM5 0.3 +34.4 34356 0.3 JUND PRDM1 SLC24A5 GC15P048147 GC15M048135 MYEF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYEF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYEF2 gene promoter:
  • ATF-2
  • MEF-2A
  • aMEF-2
  • RSRFC4
  • FOXD3
  • Nkx5-1
  • Olf-1
  • Meis-1b

Genomic Locations for MYEF2 Gene

Genomic Locations for MYEF2 Gene
chr15:48,134,631-48,178,517
(GRCh38/hg38)
Size:
43,887 bases
Orientation:
Minus strand
chr15:48,431,625-48,470,714
(GRCh37/hg19)
Size:
39,090 bases
Orientation:
Minus strand

Genomic View for MYEF2 Gene

Genes around MYEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYEF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYEF2 Gene

Proteins for MYEF2 Gene

  • Protein details for MYEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2K5-MYEF2_HUMAN
    Recommended name:
    Myelin expression factor 2
    Protein Accession:
    Q9P2K5
    Secondary Accessions:
    • A7MCZ9
    • C9J921
    • C9K0J4
    • Q6NUM5
    • Q7L388
    • Q7Z4B7
    • Q9H922
    • Q9NUQ1

    Protein attributes for MYEF2 Gene

    Size:
    600 amino acids
    Molecular mass:
    64122 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAH14533.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ13703.1; Type=Frameshift; Positions=344; Evidence={ECO:0000305}; Sequence=BAA92579.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MYEF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYEF2 Gene

Post-translational modifications for MYEF2 Gene

  • Ubiquitination at isoforms=2, 3521
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MYEF2 Gene

Domains & Families for MYEF2 Gene

Gene Families for MYEF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYEF2 Gene

Suggested Antigen Peptide Sequences for MYEF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MYEF2: view

No data available for UniProtKB/Swiss-Prot for MYEF2 Gene

Function for MYEF2 Gene

Molecular function for MYEF2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5-TTGTCC-3 of the MBP promoter. Its binding to MB1 and function are inhibited by PURA (By similarity).

Gene Ontology (GO) - Molecular Function for MYEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with MYEF2: view
genes like me logo Genes that share phenotypes with MYEF2: view

Animal Model Products

Transcription Factor Targets for MYEF2 Gene

Selected GeneGlobe predicted Target genes for MYEF2

Clone Products

  • Addgene plasmids for MYEF2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models and HOMER Transcription for MYEF2 Gene

Localization for MYEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYEF2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYEF2 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 8455629
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with MYEF2: view

Pathways & Interactions for MYEF2 Gene

genes like me logo Genes that share pathways with MYEF2: view

Gene Ontology (GO) - Biological Process for MYEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0014902 myotube differentiation IEP 8455629
GO:0030182 neuron differentiation IEP 8455629
genes like me logo Genes that share ontologies with MYEF2: view

No data available for SIGNOR curated interactions for MYEF2 Gene

Drugs & Compounds for MYEF2 Gene

No Compound Related Data Available

Transcripts for MYEF2 Gene

Unigene Clusters for MYEF2 Gene

Myelin expression factor 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for MYEF2

Alternative Splicing Database (ASD) splice patterns (SP) for MYEF2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: - - -
SP6: -
SP7:
SP8: -
SP9:
SP10: -

ExUns: 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for MYEF2 Gene

GeneLoc Exon Structure for
MYEF2
ECgene alternative splicing isoforms for
MYEF2

Expression for MYEF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYEF2 Gene

Protein differential expression in normal tissues from HIPED for MYEF2 Gene

This gene is overexpressed in Fetal Brain (17.2), Amniocyte (10.9), and Retina (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYEF2 Gene



Protein tissue co-expression partners for MYEF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYEF2 Gene:

MYEF2

SOURCE GeneReport for Unigene cluster for MYEF2 Gene:

Hs.6638

Evidence on tissue expression from TISSUES for MYEF2 Gene

  • Nervous system(4.3)
  • Bone marrow(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with MYEF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYEF2 Gene

Orthologs for MYEF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYEF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYEF2 34 33
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYEF2 34 33
  • 96.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myef2 16 34 33
  • 90.19 (n)
Gm9833 34
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Myef2 33
  • 90.19 (n)
cow
(Bos Taurus)
Mammalia MYEF2 34 33
  • 87.72 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYEF2 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYEF2 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYEF2 34 33
  • 80.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYEF2 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myef2 33
  • 73.55 (n)
zebrafish
(Danio rerio)
Actinopterygii myef2 34 33
  • 66.48 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9165 33
fruit fly
(Drosophila melanogaster)
Insecta rump 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C25A1.4 34
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GBP2 34
  • 22 (a)
ManyToMany
HRB1 34
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7224 34
  • 40 (a)
OneToMany
Species where no ortholog for MYEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYEF2 Gene

ENSEMBL:
Gene Tree for MYEF2 (if available)
TreeFam:
Gene Tree for MYEF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYEF2: view image

Paralogs for MYEF2 Gene

Paralogs for MYEF2 Gene

(8) SIMAP similar genes for MYEF2 Gene using alignment to 3 proteins:

  • MYEF2_HUMAN
  • H0YKS1_HUMAN
  • H0YN19_HUMAN
genes like me logo Genes that share paralogs with MYEF2: view

Variants for MYEF2 Gene

Sequence variations from dbSNP and Humsavar for MYEF2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1426654 association, benign, Skin/hair/eye pigmentation, variation in, 4, not specified 48,134,287(-) A/G/T downstream_transcript_variant
rs772398324 pathogenic, Albinism, oculocutaneous, type VI 48,136,733(-) T/ 3_prime_UTR_variant, genic_downstream_transcript_variant
rs886037642 association, Skin/hair/eye pigmentation, variation in, 4 48,134,964(-) AT/ATTAAT 3_prime_UTR_variant, genic_downstream_transcript_variant
rs886037643 pathogenic, Albinism, oculocutaneous, type VI 48,136,683(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs886037644 pathogenic, Albinism, oculocutaneous, type VI 48,142,203(-) TTTTTTT/TTTTTTTT 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MYEF2 Gene

Variant ID Type Subtype PubMed ID
nsv569338 CNV loss 21841781
nsv832999 CNV gain 17160897

Variation tolerance for MYEF2 Gene

Residual Variation Intolerance Score: 43.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYEF2 Gene

Human Gene Mutation Database (HGMD)
MYEF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYEF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYEF2 Gene

Disorders for MYEF2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYEF2 Gene - From: HGMD, LncRNADisease, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type vi
  • oca6
lung cancer
  • lung cancer, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search MYEF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYEF2

genes like me logo Genes that share disorders with MYEF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYEF2 Gene

Publications for MYEF2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude? (PMID: 27871913) Malone SM … Iacono WG (International journal of psychophysiology : official journal of the International Organization of Psychophysiology 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MYEF2 Gene

Sources for MYEF2 Gene

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