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Aliases for EML4 Gene

Aliases for EML4 Gene

  • Echinoderm Microtubule Associated Protein Like 4 2 3 5
  • Restrictedly Overexpressed Proliferation-Associated Protein 3 4
  • Ropp 120 3 4
  • C2orf2 3 4
  • EMAP-4 3 4
  • EMAPL4 3 4
  • Echinoderm Microtubule-Associated Protein-Like 4 3
  • ROPP120 3
  • ELP120 3

External Ids for EML4 Gene

Previous HGNC Symbols for EML4 Gene

  • C2orf2

Previous GeneCards Identifiers for EML4 Gene

  • GC02P042385
  • GC02P042565
  • GC02P042371
  • GC02P042308
  • GC02P042397

Summaries for EML4 Gene

Entrez Gene Summary for EML4 Gene

  • This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

GeneCards Summary for EML4 Gene

EML4 (Echinoderm Microtubule Associated Protein Like 4) is a Protein Coding gene. Diseases associated with EML4 include Lung Cancer and Inflammatory Myofibroblastic Tumor. Among its related pathways are Endometrial cancer and Pathways in cancer. An important paralog of this gene is EML1.

UniProtKB/Swiss-Prot for EML4 Gene

  • May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.

Gene Wiki entry for EML4 Gene

Additional gene information for EML4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EML4 Gene

Genomics for EML4 Gene

GeneHancer (GH) Regulatory Elements for EML4 Gene

Promoters and enhancers for EML4 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
GH02I042168 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 568.1 +1.8 1826 5.1 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF207 PAF1 EML4 LOC102723824 COX7A2L GC02M042233
GH02I042123 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 64 -37.8 -37803 16.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 EML4 LOC102723824 COX7A2L OXER1 HAAO LOC105374531
GH02I042097 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 35.7 -65.9 -65930 12.8 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 EML4 PKDCC LOC102723824 COX7A2L LOC105374531
GH02I042189 Enhancer 1.2 Ensembl ENCODE 39.1 +24.4 24407 9 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 EML4 COX7A2L LOC102723824 HAAO GC02M042233
GH02I042140 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 26.9 -27.4 -27397 3.8 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 EML4 COX7A2L LOC102723824 OXER1 HAAO LOC105374531
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EML4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EML4 gene promoter:

Genomic Locations for EML4 Gene

Genomic Locations for EML4 Gene
chr2:42,169,338-42,332,548
(GRCh38/hg38)
Size:
163,211 bases
Orientation:
Plus strand
chr2:42,396,490-42,559,688
(GRCh37/hg19)

Genomic View for EML4 Gene

Genes around EML4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EML4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EML4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EML4 Gene

Proteins for EML4 Gene

  • Protein details for EML4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC35-EMAL4_HUMAN
    Recommended name:
    Echinoderm microtubule-associated protein-like 4
    Protein Accession:
    Q9HC35
    Secondary Accessions:
    • A6H8Y6
    • B2RBK3
    • B2RTW7
    • B5MCW9
    • Q3SWW0
    • Q53R29
    • Q53TW8
    • Q6PJ45
    • Q9NV40

    Protein attributes for EML4 Gene

    Size:
    981 amino acids
    Molecular mass:
    108916 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI04648.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91919.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EML4 Gene

    Alternative splice isoforms for EML4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EML4 Gene

Post-translational modifications for EML4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EML4 Gene

No data available for DME Specific Peptides for EML4 Gene

Domains & Families for EML4 Gene

Gene Families for EML4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EML4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HC35

UniProtKB/Swiss-Prot:

EMAL4_HUMAN :
  • Belongs to the WD repeat EMAP family.
Family:
  • Belongs to the WD repeat EMAP family.
genes like me logo Genes that share domains with EML4: view

Function for EML4 Gene

Molecular function for EML4 Gene

UniProtKB/Swiss-Prot Function:
May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic.

Phenotypes From GWAS Catalog for EML4 Gene

Gene Ontology (GO) - Molecular Function for EML4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008017 microtubule binding IBA --
genes like me logo Genes that share ontologies with EML4: view

Phenotypes for EML4 Gene

genes like me logo Genes that share phenotypes with EML4: view

Clone Products

  • Addgene plasmids for EML4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EML4 Gene

Localization for EML4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EML4 Gene

Cytoplasm, cytoskeleton.

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 EML4 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (3)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EML4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 10995578
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton IBA --
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with EML4: view

Pathways & Interactions for EML4 Gene

genes like me logo Genes that share pathways with EML4: view

Pathways by source for EML4 Gene

2 KEGG pathways for EML4 Gene
1 Cell Signaling Technology pathway for EML4 Gene

Gene Ontology (GO) - Biological Process for EML4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle NAS 10995578
GO:0007017 microtubule-based process NAS 10995578
genes like me logo Genes that share ontologies with EML4: view

No data available for SIGNOR curated interactions for EML4 Gene

Drugs & Compounds for EML4 Gene

(1) Drugs for EML4 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceritinib Approved Pharma 38
genes like me logo Genes that share compounds with EML4: view

Transcripts for EML4 Gene

Unigene Clusters for EML4 Gene

Echinoderm microtubule associated protein like 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for EML4

Alternative Splicing Database (ASD) splice patterns (SP) for EML4 Gene

No ASD Table

Relevant External Links for EML4 Gene

GeneLoc Exon Structure for
EML4
ECgene alternative splicing isoforms for
EML4

Expression for EML4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EML4 Gene

Protein differential expression in normal tissues from HIPED for EML4 Gene

This gene is overexpressed in Lymph node (16.5) and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EML4 Gene



Protein tissue co-expression partners for EML4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EML4 Gene:

EML4

SOURCE GeneReport for Unigene cluster for EML4 Gene:

Hs.713173

Evidence on tissue expression from TISSUES for EML4 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Lung(3.6)
  • Intestine(2.3)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with EML4: 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 EML4 Gene

Orthologs for EML4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EML4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EML4 33 34
  • 97.9 (n)
dog
(Canis familiaris)
Mammalia EML4 33 34
  • 92.73 (n)
cow
(Bos Taurus)
Mammalia EML4 33 34
  • 92.65 (n)
mouse
(Mus musculus)
Mammalia Eml4 33 16 34
  • 88 (n)
rat
(Rattus norvegicus)
Mammalia Eml4 33
  • 87.32 (n)
oppossum
(Monodelphis domestica)
Mammalia EML4 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves EML4 33 34
  • 80.74 (n)
lizard
(Anolis carolinensis)
Reptilia EML4 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eml4 33
  • 74.05 (n)
Str.7603 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14971 33
zebrafish
(Danio rerio)
Actinopterygii EML4 (2 of 2) 34
  • 72 (a)
OneToMany
EML4 (1 of 2) 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13466 35
  • 34 (a)
DCX-EMAP 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 35 34
  • 28 (a)
Species where no ortholog for EML4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 EML4 Gene

ENSEMBL:
Gene Tree for EML4 (if available)
TreeFam:
Gene Tree for EML4 (if available)

Paralogs for EML4 Gene

Paralogs for EML4 Gene

(8) SIMAP similar genes for EML4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EML4: view

Variants for EML4 Gene

Sequence variations from dbSNP and Humsavar for EML4 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000020817 -- 42,189,662(+) A/G intron_variant
rs1000024185 -- 42,251,937(+) T/C intron_variant
rs1000026688 -- 42,213,228(+) C/G intron_variant
rs1000036958 -- 42,199,854(+) A/G intron_variant
rs1000041877 -- 42,232,835(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EML4 Gene

Variant ID Type Subtype PubMed ID
dgv1117e212 CNV loss 25503493
dgv6825n54 CNV loss 21841781
dgv6826n54 CNV loss 21841781
esv2533393 CNV deletion 19546169
esv2763299 CNV gain+loss 21179565
esv3555555 CNV deletion 23714750
esv3583755 CNV loss 25503493
esv3583756 CNV loss 25503493
esv3590499 CNV loss 21293372
esv3590500 CNV loss 21293372
esv3590501 CNV loss 21293372
esv3891982 CNV loss 25118596
esv8006 CNV gain 19470904
nsv1005165 CNV loss 25217958
nsv2705 CNV insertion 18451855
nsv2706 CNV deletion 18451855
nsv441755 CNV loss 18776908
nsv521335 CNV gain 19592680
nsv525133 CNV gain 19592680
nsv581635 CNV loss 21841781
nsv581640 CNV loss 21841781
nsv581642 CNV loss 21841781

Variation tolerance for EML4 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.17; 87.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EML4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EML4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EML4 Gene

Disorders for EML4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EML4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • lung cancer, susceptibility to
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
lung papillary adenocarcinoma
  • papillary adenocarcinoma of the lung
childhood kidney cell carcinoma
  • pediatric renal cell carcinoma
lung adenoid cystic carcinoma
  • adenoid cystic carcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search EML4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EML4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EML4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EML4 Gene

Publications for EML4 Gene

  1. Clinicopathologic features of non-small-cell lung cancer with EML4-ALK fusion gene. (PMID: 20183914) Takahashi T … Date H (Annals of surgical oncology 2010) 3 22 58
  2. Fusion of EML4 and ALK is associated with development of lung adenocarcinomas lacking EGFR and KRAS mutations and is correlated with ALK expression. (PMID: 20624322) Zhang X … Wu YL (Molecular cancer 2010) 3 44 58
  3. EML4-ALK fusion is linked to histological characteristics in a subset of lung cancers. (PMID: 18166835) Inamura K … Ishikawa Y (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2008) 3 22 58
  4. EML4-ALK fusion transcript is not found in gastrointestinal and breast cancers. (PMID: 18414414) Fukuyoshi Y … Mori M (British journal of cancer 2008) 3 22 58
  5. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. (PMID: 17625570) Soda M … Mano H (Nature 2007) 3 22 58

Products for EML4 Gene

  • Addgene plasmids for EML4

Sources for EML4 Gene

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