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EML4 EMAP like 4 [ Homo sapiens (human) ]

Gene ID: 27436, updated on 28-Oct-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
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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. 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
  2. [Discovery of EML4-ALK, a new gene responsible for lung cancer, and the development of molecular targeted therapy]. Mano H. Nihon Naika Gakkai Zasshi, 2010 Apr 10. PMID 20578368
  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. 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
  5. 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

See all (137) 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

Gene LinkOut

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