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Aliases for EML6 Gene

Aliases for EML6 Gene

  • Echinoderm Microtubule Associated Protein Like 6 2 3 5
  • EMAP-6 3 4
  • Echinoderm Microtubule-Associated Protein-Like 5-Like 4
  • Echinoderm Microtubule-Associated Protein-Like 6 3
  • EML5L 4

External Ids for EML6 Gene

Previous GeneCards Identifiers for EML6 Gene

  • GC02P054806
  • GC02P054950
  • GC02P054684

Summaries for EML6 Gene

GeneCards Summary for EML6 Gene

EML6 (Echinoderm Microtubule Associated Protein Like 6) is a Protein Coding gene. Diseases associated with EML6 include Astigmatism. An important paralog of this gene is EML5.

UniProtKB/Swiss-Prot for EML6 Gene

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

Additional gene information for EML6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EML6 Gene

Genomics for EML6 Gene

Regulatory Elements for EML6 Gene

Enhancers for EML6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H054671 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.9 -50.0 -49995 3 FOXA2 ATF1 TBL1XR1 BMI1 BATF YY1 ATF7 RUNX3 CREM IKZF2 EML6 ACYP2 LOC105374653 GC02P054651
GH02H054523 1.6 FANTOM5 Ensembl ENCODE dbSUPER 26.4 -198.9 -198869 2 HDGF CTCF FOXA2 JUN EBF1 BATF FOSL1 GATA3 EED ATF7 EML6 ENSG00000203327 PRORSD1P RPS27A SPTBN1 CLHC1 ACYP2 RNU7-172P RPL23AP32 GC02P054516
GH02H054722 1.1 ENCODE 37.7 +0.0 26 2 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 EML6 GC02M054726
GH02H054664 1.5 Ensembl ENCODE dbSUPER 27.6 -55.8 -55764 6 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS EML6 PSME4 ACYP2 PRORSD1P RPL23AP32 LOC105374653 GC02P054651
GH02H054566 2.1 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -148.1 -148098 16 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 PPARGC1A MEF2D SSRP1 EML6 SPTBN1 ENSG00000272156 PRORSD1P ENSG00000238018 LOC105374640 PIR49112 GC02M054620
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EML6 on UCSC Golden Path with GeneCards custom track

Promoters for EML6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117250 501 2401 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143

Genomic Location for EML6 Gene

Chromosome:
2
Start:
54,723,499 bp from pter
End:
54,972,908 bp from pter
Size:
249,410 bases
Orientation:
Plus strand

Genomic View for EML6 Gene

Genes around EML6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EML6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EML6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EML6 Gene

Proteins for EML6 Gene

  • Protein details for EML6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMW3-EMAL6_HUMAN
    Recommended name:
    Echinoderm microtubule-associated protein-like 6
    Protein Accession:
    Q6ZMW3
    Secondary Accessions:
    • A8MUB5
    • B6ZDG7

    Protein attributes for EML6 Gene

    Size:
    1958 amino acids
    Molecular mass:
    217899 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EML6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EML6 Gene

Post-translational modifications for EML6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EML6 Gene

No data available for DME Specific Peptides for EML6 Gene

Domains & Families for EML6 Gene

Gene Families for EML6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for EML6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZMW3

UniProtKB/Swiss-Prot:

EMAL6_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 EML6: view

Function for EML6 Gene

Molecular function for EML6 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 EML6 Gene

Gene Ontology (GO) - Molecular Function for EML6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IBA --
genes like me logo Genes that share ontologies with EML6: view

Phenotypes for EML6 Gene

GenomeRNAi human phenotypes for EML6:
genes like me logo Genes that share phenotypes with EML6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EML6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EML6 Gene

Localization for EML6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EML6 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 EML6 gene
Compartment Confidence
cytoskeleton 3
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EML6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton IBA --
genes like me logo Genes that share ontologies with EML6: view

Pathways & Interactions for EML6 Gene

No Data Available

Interacting Proteins for EML6 Gene

Gene Ontology (GO) - Biological Process for EML6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EML6 Gene

Drugs & Compounds for EML6 Gene

No Compound Related Data Available

Transcripts for EML6 Gene

mRNA/cDNA for EML6 Gene

(6) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EML6 Gene

Echinoderm microtubule associated protein like 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EML6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EML6 Gene

No ASD Table

Relevant External Links for EML6 Gene

GeneLoc Exon Structure for
EML6
ECgene alternative splicing isoforms for
EML6

Expression for EML6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EML6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EML6 Gene

This gene is overexpressed in Brain - Cerebellum (x4.4).

Protein differential expression in normal tissues from HIPED for EML6 Gene

This gene is overexpressed in Plasma (27.0), Fetal gut (12.0), Bone marrow mesenchymal stem cell (10.2), Frontal cortex (8.6), and Saliva (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EML6 Gene



NURSA nuclear receptor signaling pathways regulating expression of EML6 Gene:

EML6

SOURCE GeneReport for Unigene cluster for EML6 Gene:

Hs.656692

Evidence on tissue expression from TISSUES for EML6 Gene

  • Eye(2.3)
  • Nervous system(2.3)
  • Blood(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with EML6: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EML6 Gene

Orthologs for EML6 Gene

This gene was present in the common ancestor of animals.

Orthologs for EML6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EML6 33 34
  • 98.99 (n)
oppossum
(Monodelphis domestica)
Mammalia EML6 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EML6 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EML6 33 34
  • 92.92 (n)
dog
(Canis familiaris)
Mammalia EML6 33 34
  • 92.82 (n)
mouse
(Mus musculus)
Mammalia Eml6 33 16 34
  • 90.18 (n)
rat
(Rattus norvegicus)
Mammalia RGD1561672 33
  • 89.43 (n)
chicken
(Gallus gallus)
Aves EML6 33 34
  • 82.23 (n)
lizard
(Anolis carolinensis)
Reptilia EML6 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eml6 33
  • 78.48 (n)
zebrafish
(Danio rerio)
Actinopterygii EML6 34
  • 78 (a)
OneToOne
eml6 33
  • 72.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta DCX-EMAP 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea elp-1 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToMany
Species where no ortholog for EML6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 EML6 Gene

ENSEMBL:
Gene Tree for EML6 (if available)
TreeFam:
Gene Tree for EML6 (if available)

Paralogs for EML6 Gene

Paralogs for EML6 Gene

(2) SIMAP similar genes for EML6 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for EML6 Gene

genes like me logo Genes that share paralogs with EML6: view

Variants for EML6 Gene

Sequence variations from dbSNP and Humsavar for EML6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000006016 -- 54,800,605(+) TGGTG(A/G)ATGCA intron-variant
rs1000011384 -- 54,841,743(+) GCGTG(C/G)TACCA intron-variant
rs1000013851 -- 54,832,334(+) TATTG(C/T)ACTGA intron-variant
rs1000016846 -- 54,773,322(+) GCAAG(A/C)CACTA intron-variant
rs1000064081 -- 54,945,936(+) CACAG(C/G)GGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EML6 Gene

Variant ID Type Subtype PubMed ID
dgv462n27 CNV gain 19166990
dgv6893n54 CNV gain 21841781
esv2131560 CNV deletion 18987734
esv2337133 CNV deletion 18987734
esv2600788 CNV deletion 19546169
esv2622685 CNV deletion 19546169
esv2677269 CNV deletion 23128226
esv2720078 CNV deletion 23290073
esv2720082 CNV deletion 23290073
esv2720083 CNV deletion 23290073
esv2720085 CNV deletion 23290073
esv2720086 CNV deletion 23290073
esv33638 CNV loss 17666407
esv3556977 CNV deletion 23714750
esv3556999 CNV deletion 23714750
esv3557011 CNV deletion 23714750
esv3590846 CNV loss 21293372
esv3590849 CNV loss 21293372
esv3892426 CNV loss 25118596
nsv1005449 CNV loss 25217958
nsv1071993 CNV deletion 25765185
nsv1109248 CNV deletion 24896259
nsv1135868 CNV deletion 24896259
nsv2734 CNV insertion 18451855
nsv2735 CNV insertion 18451855
nsv457930 CNV loss 19166990
nsv470465 CNV gain 18288195
nsv508838 CNV insertion 20534489
nsv519246 CNV gain 19592680
nsv519306 CNV gain 19592680
nsv525624 CNV gain 19592680
nsv528980 CNV loss 19592680
nsv582024 CNV gain 21841781
nsv582025 CNV loss 21841781
nsv582028 CNV loss 21841781
nsv582029 CNV loss 21841781
nsv7312 OTHER inversion 18451855
nsv834069 CNV loss 17160897
nsv953127 CNV duplication 24416366
nsv954210 CNV deletion 24416366

Variation tolerance for EML6 Gene

Gene Damage Index Score: 3.59; 56.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EML6 Gene

Human Gene Mutation Database (HGMD)
EML6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EML6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EML6 Gene

Disorders for EML6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EML6 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
astigmatism
- elite association - COSMIC cancer census association via MalaCards
Search EML6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EML6

Genetic Association Database (GAD)
EML6
Human Genome Epidemiology (HuGE) Navigator
EML6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EML6
genes like me logo Genes that share disorders with EML6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EML6 Gene

Publications for EML6 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Common body mass index-associated variants confer risk of extreme obesity. (PMID: 19553259) Cotsapas C … GIANT Consortium (Human molecular genetics 2009) 3 45 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2016) 3 60
  5. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. (PMID: 25367360) Li Q … CREAM Consortium (Human genetics 2015) 3 60

Products for EML6 Gene

Sources for EML6 Gene

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