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    EML4 EMAP like 4 [ Homo sapiens (human) ]

    Gene ID: 27436, updated on 3-Nov-2024

    Summary

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    Official Symbol
    EML4provided by HGNC
    Official Full Name
    EMAP like 4provided by HGNC
    Primary source
    HGNC:HGNC:1316
    See related
    Ensembl:ENSG00000143924 MIM:607442; AllianceGenome:HGNC:1316
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C2orf2; ELP120; EMAP-4; EMAPL4; ROPP120
    Summary
    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]
    Expression
    Ubiquitous expression in appendix (RPKM 24.1), duodenum (RPKM 22.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EML4 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (42169353..42332548)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (42174851..42337951)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (42396493..42559688)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:42276763-42277264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:42279935-42280650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42280651-42281365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:42285233-42285733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15636 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:42296167-42296331 Neighboring gene uncharacterized LOC105374531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15637 Neighboring gene protein kinase domain containing, cytoplasmic Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42328443-42329270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15642 Neighboring gene MPRA-validated peak3676 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15643 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42359847-42360820 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42360821-42361792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42367980-42368777 Neighboring gene EML4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15644 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42396227-42396879 Neighboring gene HNF1 motif-containing MPRA enhancer 263/264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42567158-42568066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:42568067-42568974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15645 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:42587530-42588274 and GRCh37_chr2:42588275-42589018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15648 Neighboring gene cytochrome c oxidase subunit 7A2 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:42597071-42597572 Neighboring gene potassium voltage-gated channel modifier subfamily G member 3 Neighboring gene small nucleolar RNA SNORD75

    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 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. A novel mass spectrometry-based assay for diagnosis of EML4-ALK-positive non-small cell lung cancer. Sakai K, et al. J Thorac Oncol, 2012 May. PMID 22722791
    2. Successful long-term treatment with pemetrexed of NSCLC associated with EML4-ALK and low thymidylate synthase expression. Takeda M, et al. Clin Lung Cancer, 2012 Mar. PMID 22056890
    3. Ground-glass nodule in a patient with echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK)-positive lung cancer: a case report. Owada Y, et al. World J Surg Oncol, 2016 Mar 10. PMID 26964537, Free PMC Article
    4. A novel EML4-ALK variant: exon 6 of EML4 fused to exon 19 of ALK. Penzel R, et al. J Thorac Oncol, 2012 Jul. PMID 22706607
    5. Fluorescence in situ hybridization, immunohistochemistry, and next-generation sequencing for detection of EML4-ALK rearrangement in lung cancer. Pekar-Zlotin M, et al. Oncologist, 2015 Mar. PMID 25721120, Free PMC Article

    See all (138) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Malignant pleural mesothelioma with an EML4-ALK fusion: Expect the unexpected!
      Title: Malignant pleural mesothelioma with an EML4-ALK fusion: Expect the unexpected!
    2. Phase-separated foci of EML4-ALK facilitate signalling and depend upon an active kinase conformation.
      Title: Phase-separated foci of EML4-ALK facilitate signalling and depend upon an active kinase conformation.
    3. An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma.
      Title: An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma.
    4. The impact of the ALK fusion variant on clinical outcomes in EML4-ALK patients with NSCLC: a systematic review and meta-analysis.
      Title: The impact of the ALK fusion variant on clinical outcomes in EML4-ALK patients with NSCLC: a systematic review and meta-analysis.
    5. A novel break site of EML4-ALK report and a rare PRKAR1A-ALK report analyzed by different ALK detection platforms in non-small cell lung cancer patients.
      Title: A novel break site of EML4-ALK report and a rare PRKAR1A-ALK report analyzed by different ALK detection platforms in non-small cell lung cancer patients.
    6. Identification of a EML4-ALK exon 19 fusion variant in lung adenocarcinoma and alectinib resistance.
      Title: Identification of a EML4-ALK exon 19 fusion variant in lung adenocarcinoma and alectinib resistance.
    7. Clinicopathological and Prognostic Significance of the EML4-ALK Translocation and IGFR1, TTF1, Napsin A Expression in Patients with Lung Adenocarcinoma.", trans "Clinicopathological and Prognostic Significance of the EML4-ALK Translocation and IGFR1, TTF1, Napsin A Expression in Patients with Lung Adenocarcinoma.
      Title: Clinicopathological and Prognostic Significance of the EML4-ALK Translocation and IGFR1, TTF1, Napsin A Expression in Patients with Lung Adenocarcinoma.
    8. Investigation on the prognostic impact of concurrent genomic alterations in crizotinib-treated EML4-ALK-rearranged advanced non-small cell lung cancer patients.
      Title: Investigation on the prognostic impact of concurrent genomic alterations in crizotinib-treated EML4-ALK-rearranged advanced non-small cell lung cancer patients.
    9. The Prevalence of the EML4-ALK Fusion Gene in Cytology Specimens from Patients with Lung Adenocarcinoma.
      Title: The Prevalence of the EML4-ALK Fusion Gene in Cytology Specimens from Patients with Lung Adenocarcinoma.
    10. EML4-ALK V3 oncogenic fusion proteins promote microtubule stabilization and accelerated migration through NEK9 and NEK7.
      Title: EML4-ALK V3 oncogenic fusion proteins promote microtubule stabilization and accelerated migration through NEK9 and NEK7.
    Submit: New GeneRIF Correction See all GeneRIFs (84)

    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

    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

    • FLJ10942, FLJ32318, DKFZp686P18118

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables beta-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in attachment of spindle microtubules to kinetochore IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule-based process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    echinoderm microtubule-associated protein-like 4
    Names
    EML4/ALK fusion protein
    echinoderm microtubule associated protein like 4
    restrictedly overexpressed proliferation-associated protein
    ropp 120

    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_001145076.3 → NP_001138548.2  echinoderm microtubule-associated protein-like 4 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AC006038, AC083949, AC096668
      Consensus CDS
      CCDS46266.1
      Related
      ENSP00000385059.2, ENST00000402711.6
      Conserved Domains (3) summary
      sd00039
      Location:580 → 615
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:167 → 238
      HELP; HELP motif
      cl29593
      Location:444 → 805
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001410776.1 → NP_001397705.1  echinoderm microtubule-associated protein-like 4 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC006038, AC083949, AC096668
      Consensus CDS
      CCDS92747.1
      UniProtKB/TrEMBL
      B5MBZ0
      Related
      ENSP00000384939.3, ENST00000401738.3

    3. NM_019063.5 → NP_061936.3  echinoderm microtubule-associated protein-like 4 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC006038, AC083949, AC096668
      Consensus CDS
      CCDS1807.1
      UniProtKB/Swiss-Prot
      A6H8Y6, B2RBK3, B2RTW7, B5MCW9, Q3SWW0, Q53R29, Q53TW8, Q6PJ45, Q9HC35, Q9NV40
      Related
      ENSP00000320663.5, ENST00000318522.10
      Conserved Domains (3) summary
      sd00039
      Location:638 → 673
      7WD40; WD40 repeat [structural motif]
      pfam03451
      Location:225 → 296
      HELP; HELP motif
      cl25539
      Location:502 → 863
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      42169353..42332548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443953.1 → XP_047299909.1  echinoderm microtubule-associated protein-like 4 isoform X2

    2. XM_006711992.3 → XP_006712055.1  echinoderm microtubule-associated protein-like 4 isoform X2

      Conserved Domains (5) summary
      COG2319
      Location:212 → 674
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:157 → 228
      HELP; HELP motif
      pfam16228
      Location:21 → 155
      DUF4887; Domain of unknown function (DUF4887)
      sd00039
      Location:570 → 605
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:434 → 795
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_006711991.2 → XP_006712054.1  echinoderm microtubule-associated protein-like 4 isoform X1

      Conserved Domains (4) summary
      COG2319
      Location:233 → 695
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:178 → 249
      HELP; HELP motif
      sd00039
      Location:591 → 626
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:455 → 816
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_005264268.4 → XP_005264325.1  echinoderm microtubule-associated protein-like 4 isoform X3

      Conserved Domains (5) summary
      COG2319
      Location:291 → 753
      WD40; WD40 repeat [General function prediction only]
      pfam03451
      Location:236 → 307
      HELP; HELP motif
      pfam16228
      Location:100 → 234
      DUF4887; Domain of unknown function (DUF4887)
      sd00039
      Location:423 → 464
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:467 → 753
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_047443954.1 → XP_047299910.1  echinoderm microtubule-associated protein-like 4 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      42174851..42337951
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341404.1 → XP_054197379.1  echinoderm microtubule-associated protein-like 4 isoform X2

    2. XM_054341405.1 → XP_054197380.1  echinoderm microtubule-associated protein-like 4 isoform X2

    3. XM_054341403.1 → XP_054197378.1  echinoderm microtubule-associated protein-like 4 isoform X1

    4. XM_054341406.1 → XP_054197381.1  echinoderm microtubule-associated protein-like 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HC35.3 GenPept UniProtKB/Swiss-Prot:Q9HC35

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