Human Gene EML4 (uc002rsi.3)
  Description: Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.
RefSeq Summary (NM_019063): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:42,396,490-42,559,688 Size: 163,199 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr2:42,396,752-42,557,347 Size: 160,596 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:42,396,490-42,559,688)mRNA (may differ from genome)Protein (981 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EMAL4_HUMAN
DESCRIPTION: RecName: Full=Echinoderm microtubule-associated protein-like 4; Short=EMAP-4; AltName: Full=Restrictedly overexpressed proliferation-associated protein; AltName: Full=Ropp 120;
FUNCTION: May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Potential).
DEVELOPMENTAL STAGE: Strongly overexpressed during mitosis.
SIMILARITY: Belongs to the WD repeat EMAP family.
SIMILARITY: Contains 9 WD repeats.
SEQUENCE CAUTION: Sequence=AAI04648.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA91919.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EML4
CDC HuGE Published Literature: EML4

-  MalaCards Disease Associations
  MalaCards Gene Search: EML4
Diseases sorted by gene-association score: lung cancer (11), inflammatory myofibroblastic tumor (2), lung papillary adenocarcinoma (2), childhood kidney cell carcinoma (1), lung adenoid cystic carcinoma (1), in situ pulmonary adenocarcinoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.55 RPKM in Spleen
Total median expression: 472.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -139.56262-0.533 Picture PostScript Text
3' UTR -613.052341-0.262 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005108 - HELP
IPR011047 - Quinonprotein_ADH-like
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF03451 - HELP motif

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9HC35
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0008017 microtubule binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0007017 microtubule-based process

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AB275889 - Homo sapiens mRNA for fusion protein EML4-ALK variant 2, complete cds.
AK314702 - Homo sapiens cDNA, FLJ95556, highly similar to Homo sapiens echinoderm microtubule associated protein like 4 (EML4), mRNA.
BC146799 - Homo sapiens echinoderm microtubule associated protein like 4, mRNA (cDNA clone MGC:166971 IMAGE:8860304), complete cds.
AF177377 - Homo sapiens cytoplasmic protein mRNA, complete cds.
BC067777 - Homo sapiens cDNA clone IMAGE:30331561, containing frame-shift errors.
BC104647 - Homo sapiens echinoderm microtubule associated protein like 4, mRNA (cDNA clone IMAGE:6454413), partial cds.
BC140845 - Homo sapiens echinoderm microtubule associated protein like 4, mRNA (cDNA clone MGC:176522 IMAGE:9021713), complete cds.
AB374363 - Homo sapiens mRNA for fusion protein EML4-ALK variant 4, complete cds.
AB462412 - Homo sapiens EML4-ALK variant 7 mRNA for fusion protein EML4-ALK variant 7, complete cds.
AB384933 - Synthetic construct DNA, clone: pF1KB4366, Homo sapiens EML4 gene for echinoderm microtubule-associated protein-like 4, complete cds, without stop codon, in Flexi system.
AK021782 - Homo sapiens cDNA FLJ11720 fis, clone HEMBA1005293.
BX647731 - Homo sapiens mRNA; cDNA DKFZp686A2431 (from clone DKFZp686A2431).
BX647693 - Homo sapiens mRNA; cDNA DKFZp686P18118 (from clone DKFZp686P18118).
AK056880 - Homo sapiens cDNA FLJ32318 fis, clone PROST2003396, highly similar to Homo sapiens cytoplasmic protein (C2orf2(ropp120)) mRNA.
AK295778 - Homo sapiens cDNA FLJ55069 complete cds, highly similar to Echinoderm microtubule-associated protein-like 4.
AL832392 - Homo sapiens mRNA; cDNA DKFZp667H2412 (from clone DKFZp667H2412).
DQ599895 - Homo sapiens piRNA piR-37961, complete sequence.
GU797895 - Homo sapiens EML4-ALK fusion protein variant 8b mRNA, partial cds.
AK001804 - Homo sapiens cDNA FLJ10942 fis, clone OVARC1001296.
BC023522 - Homo sapiens echinoderm microtubule associated protein like 4, mRNA (cDNA clone IMAGE:4302116), partial cds.
BC038351 - Homo sapiens echinoderm microtubule associated protein like 4, mRNA (cDNA clone IMAGE:4778506), with apparent retained intron.
JD401385 - Sequence 382409 from Patent EP1572962.
JD373540 - Sequence 354564 from Patent EP1572962.
JD301039 - Sequence 282063 from Patent EP1572962.
AK172777 - Homo sapiens cDNA FLJ23938 fis, clone HEP01365.
JD315866 - Sequence 296890 from Patent EP1572962.
JD528392 - Sequence 509416 from Patent EP1572962.
AF131753 - Homo sapiens clone 24859 mRNA sequence.
JD051463 - Sequence 32487 from Patent EP1572962.
JD090093 - Sequence 71117 from Patent EP1572962.
JD064313 - Sequence 45337 from Patent EP1572962.
JD502383 - Sequence 483407 from Patent EP1572962.
JD172370 - Sequence 153394 from Patent EP1572962.
JD298655 - Sequence 279679 from Patent EP1572962.
JD089704 - Sequence 70728 from Patent EP1572962.
JD268512 - Sequence 249536 from Patent EP1572962.
BC008685 - Homo sapiens echinoderm microtubule associated protein like 4, mRNA (cDNA clone IMAGE:3868340), complete cds.
JD360080 - Sequence 341104 from Patent EP1572962.
JD067153 - Sequence 48177 from Patent EP1572962.
KJ906127 - Synthetic construct Homo sapiens clone ccsbBroadEn_15797 EML4 gene, encodes complete protein.
JD087490 - Sequence 68514 from Patent EP1572962.
JD515704 - Sequence 496728 from Patent EP1572962.
JD234049 - Sequence 215073 from Patent EP1572962.
JD507820 - Sequence 488844 from Patent EP1572962.
JD434150 - Sequence 415174 from Patent EP1572962.
JD090895 - Sequence 71919 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RBK3, B2RTW7, C2orf2, EMAL4_HUMAN, EMAPL4, NM_019063, NP_061936, Q3SWW0, Q53R29, Q53TW8, Q6PJ45, Q9HC35, Q9NV40
UCSC ID: uc002rsi.3
RefSeq Accession: NM_019063
Protein: Q9HC35 (aka EMAL4_HUMAN or EML4_HUMAN)
CCDS: CCDS1807.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_019063.3
exon count: 23CDS single in 3' UTR: no RNA size: 5565
ORF size: 2946CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 5928.50frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.