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Aliases for EML4 Gene

Aliases for EML4 Gene

  • Echinoderm Microtubule Associated Protein Like 4 2 3
  • Restrictedly Overexpressed Proliferation-Associated Protein 3 4
  • Ropp 120 3 4
  • C2orf2 3 4
  • EMAP-4 3 4
  • EMAPL4 3 4
  • 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 congenital pulmonary airway malformation and inflammatory myofibroblastic tumor. Among its related pathways are Cytoskeletal Signaling and Glioma. An important paralog of this gene is EML5.

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

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

Genomics for EML4 Gene

Regulatory Elements for EML4 Gene

Genomic Location for EML4 Gene

Chromosome:
2
Start:
42,169,338 bp from pter
End:
42,332,548 bp from pter
Size:
163,211 bases
Orientation:
Plus strand

Genomic View for EML4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for EML4 Gene at MOPED

Post-translational modifications for EML4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EML4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EML4 (EML4)

No data available for DME Specific Peptides for EML4 Gene

Domains & Families for EML4 Gene

Gene Families for EML4 Gene

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.
  • Contains 9 WD repeats.
Family:
  • Belongs to the WD repeat EMAP family.
Similarity:
  • Contains 9 WD repeats.
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.

Gene Ontology (GO) - Molecular Function for EML4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with EML4: view

Phenotypes for EML4 Gene

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

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EML4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for EML4 Gene COMPARTMENTS Subcellular localization image for EML4 gene
Compartment Confidence
cytoskeleton 3
cytosol 2

Gene Ontology (GO) - Cellular Components for EML4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 10995578
GO:0005874 microtubule IEA --
GO:0016020 membrane 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

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

Gene Ontology (GO) - Biological Process for EML4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process NAS 10995578
GO:0007067 mitotic nuclear division 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 32
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EML4

Flow Cytometry Products

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 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, MOPED, and MaxQB for EML4 Gene



SOURCE GeneReport for Unigene cluster for EML4 Gene Hs.713173

genes like me logo Genes that share expression patterns with EML4: view

Protein tissue co-expression partners for EML4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia EML4 35
  • 92.65 (n)
  • 93.4 (a)
EML4 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EML4 35
  • 92.73 (n)
  • 93.37 (a)
EML4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eml4 35
  • 88 (n)
  • 89.33 (a)
Eml4 16
Eml4 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EML4 35
  • 97.9 (n)
  • 97.32 (a)
EML4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eml4 35
  • 87.32 (n)
  • 90.11 (a)
oppossum
(Monodelphis domestica)
Mammalia EML4 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves EML4 35
  • 80.74 (n)
  • 85.35 (a)
EML4 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EML4 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eml4 35
  • 74.05 (n)
  • 79.91 (a)
Str.7603 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14971 35
zebrafish
(Danio rerio)
Actinopterygii EML4 (1 of 2) 36
  • 63 (a)
OneToMany
EML4 (2 of 2) 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13466 37
  • 34 (a)
DCX-EMAP 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 37
  • 28 (a)
elp-1 36
  • 24 (a)
OneToMany
Species with no ortholog for EML4:
  • 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 Sequence Context AA Info Type MAF
rs4048 -- 42,197,455(-) GCCAA(G/T)AGATG intron-variant
rs13375 -- 42,332,148(+) TGGAG(A/G)AGAAA utr-variant-3-prime
rs744916 -- 42,315,585(+) AAAAA(A/T)AGACC intron-variant
rs997288 -- 42,298,442(+) GATTT(C/G)AAACA intron-variant
rs997289 -- 42,298,473(+) CAGAA(A/G)TACAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv2705 CNV Insertion 18451855
dgv4106n71 CNV Loss 21882294
nsv873966 CNV Gain 21882294
nsv2706 CNV Loss 18451855
nsv873968 CNV Loss 21882294
nsv441755 CNV CNV 18776908
nsv521335 CNV Gain 19592680
esv8006 CNV Gain 19470904
nsv873969 CNV Loss 21882294
nsv525133 CNV Gain 19592680
esv2533393 CNV Deletion 19546169

Variation tolerance for EML4 Gene

Residual Variation Intolerance Score: 19.84% 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)

Relevant External Links for EML4 Gene

HapMap Linkage Disequilibrium report
EML4

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

Disorders for EML4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EML4 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
congenital pulmonary airway malformation
  • ccam
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
lung cancer
  • lung cancer, protection against
- elite association
Search EML4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EML4

Genetic Association Database (GAD)
EML4
Human Genome Epidemiology (HuGE) Navigator
EML4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EML4
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. Anaplastic lymphoma kinase as a therapeutic target in anaplastic large cell lymphoma, non-small cell lung cancer and neuroblastoma. (PMID: 20406193) Cheng M. … Ott G.R. (Anticancer Agents Med Chem 2010) 23 67
  2. Clinicopathologic features of non-small-cell lung cancer with EML4-ALK fusion gene. (PMID: 20183914) Takahashi T. … Date H. (Ann. Surg. Oncol. 2010) 23 67
  3. EML4-ALK lung cancers are characterized by rare other mutations, a TTF-1 cell lineage, an acinar histology, and young onset. (PMID: 19234440) Inamura K. … Ishikawa Y. (Mod. Pathol. 2009) 23 67
  4. ALK gene rearrangements: a new therapeutic target in a molecularly defined subset of non-small cell lung cancer. (PMID: 20009909) Solomon B. … Camidge D.R. (J Thorac Oncol 2009) 23 67
  5. Anaplastic lymphoma kinase: signalling in development and disease. (PMID: 19459784) Palmer R.H. … Hallberg B. (Biochem. J. 2009) 23 67

Products for EML4 Gene

Sources for EML4 Gene

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