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Aliases for ECT2L Gene

Aliases for ECT2L Gene

  • Epithelial Cell Transforming 2 Like 2 3 5
  • Lung Specific F-Box And DH Domain Containing Protein 2 3
  • Putative Guanine Nucleotide Exchange Factor LFDH 3 4
  • F-Box Protein 49 2 3
  • C6orf91 3 4
  • LFDH 3 4
  • Epithelial Cell Transforming Sequence 2 Oncogene-Like 2
  • Epithelial Cell-Transforming Sequence 2 Oncogene-Like 3
  • Lung-Specific F-Box And DH Domain-Containing Protein 4
  • Chromosome 6 Open Reading Frame 91 2
  • DJ509I19.2 3
  • DJ509I19.3 3
  • DJ509I19.5 3
  • ECT2-Like 3
  • ARHGEF32 3
  • FBXO49 3

External Ids for ECT2L Gene

Previous HGNC Symbols for ECT2L Gene

  • C6orf91

Previous GeneCards Identifiers for ECT2L Gene

  • GC00U914183
  • GC06U900635
  • GC06P139158
  • GC06P139117
  • GC06P136678

Summaries for ECT2L Gene

GeneCards Summary for ECT2L Gene

ECT2L (Epithelial Cell Transforming 2 Like) is a Protein Coding gene. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FBXO16.

UniProtKB/Swiss-Prot for ECT2L Gene

  • May act as a guanine nucleotide exchange factor (GEF).

Additional gene information for ECT2L 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 ECT2L Gene

Genomics for ECT2L Gene

Regulatory Elements for ECT2L Gene

Enhancers for ECT2L 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
GH06H138816 1.2 Ensembl ENCODE 11.8 +22.9 22874 5 HDGF RB1 SIN3A BATF RAD21 RFX5 ZNF121 ZNF143 FOS ATF7 REPS1 ECT2L CCRL1P1
GH06H138772 1.1 ENCODE 10.2 -22.2 -22219 2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 SP5 ECT2L CCDC28A GVQW2
GH06H139111 1.1 FANTOM5 ENCODE dbSUPER 10 +317.4 317403 3 OSR2 GATA3 ZSCAN4 FOXP2 SP7 HECA ECT2L LOC102723690 ABRACL REPS1 GC06P139052
GH06H139115 0.8 ENCODE dbSUPER 10 +320.2 320200 1 ZFHX2 ZNF316 MAFG EMSY MAFK EGR2 ECT2L LOC102723690 HECA GC06P139052
GH06H139131 1.6 Ensembl ENCODE dbSUPER 4.3 +338.6 338646 5 PKNOX1 ARNT ARID4B SIN3A ZNF143 ZNF207 FOS SP3 ZHX2 ZC3H11A ABRACL HECA TXLNB ECT2L GC06P139052
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ECT2L on UCSC Golden Path with GeneCards custom track

Promoters for ECT2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203803 274 801 POLR2A ZBTB33

Genomic Location for ECT2L Gene

Chromosome:
6
Start:
138,795,926 bp from pter
End:
138,904,070 bp from pter
Size:
108,145 bases
Orientation:
Plus strand

Genomic View for ECT2L Gene

Genes around ECT2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECT2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECT2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECT2L Gene

Proteins for ECT2L Gene

  • Protein details for ECT2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q008S8-ECT2L_HUMAN
    Recommended name:
    Epithelial cell-transforming sequence 2 oncogene-like
    Protein Accession:
    Q008S8
    Secondary Accessions:
    • B2RUV6
    • Q5JWK2
    • Q5JWK3
    • Q5JWK4

    Protein attributes for ECT2L Gene

    Size:
    904 amino acids
    Molecular mass:
    104880 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=ABI98401.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ECT2L Gene

Post-translational modifications for ECT2L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ECT2L Gene

Domains & Families for ECT2L Gene

Gene Families for ECT2L Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for ECT2L Gene

Suggested Antigen Peptide Sequences for ECT2L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ECT2L: view

No data available for UniProtKB/Swiss-Prot for ECT2L Gene

Function for ECT2L Gene

Molecular function for ECT2L Gene

UniProtKB/Swiss-Prot Function:
May act as a guanine nucleotide exchange factor (GEF).

Phenotypes From GWAS Catalog for ECT2L Gene

Gene Ontology (GO) - Molecular Function for ECT2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with ECT2L: view

Phenotypes for ECT2L Gene

genes like me logo Genes that share phenotypes with ECT2L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECT2L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ECT2L Gene

Localization for ECT2L Gene

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 ECT2L gene
Compartment Confidence
mitochondrion 2
cytosol 2
peroxisome 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ECT2L Gene

Pathways & Interactions for ECT2L Gene

SuperPathways for ECT2L Gene

No Data Available

Interacting Proteins for ECT2L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000356655%0d%0a9606.ENSP00000256594%0d%0a
Selected Interacting proteins: Q008S8-ECT2L_HUMAN ENSP00000356655 for ECT2L Gene via IID STRING

Gene Ontology (GO) - Biological Process for ECT2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ECT2L: view

No data available for Pathways by source and SIGNOR curated interactions for ECT2L Gene

Drugs & Compounds for ECT2L Gene

(4) Drugs for ECT2L Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
anthracyclines and related substances Pharma 0
genes like me logo Genes that share compounds with ECT2L: view

Transcripts for ECT2L Gene

mRNA/cDNA for ECT2L Gene

(8) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ECT2L Gene

Epithelial cell transforming sequence 2 oncogene-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ECT2L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ECT2L Gene

No ASD Table

Relevant External Links for ECT2L Gene

GeneLoc Exon Structure for
ECT2L
ECgene alternative splicing isoforms for
ECT2L

Expression for ECT2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECT2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ECT2L Gene

This gene is overexpressed in Lung (x4.2), Heart - Left Ventricle (x4.1), and Cervix - Endocervix (x4.1).

Protein differential expression in normal tissues from HIPED for ECT2L Gene

This gene is overexpressed in Lung (43.2), Platelet (13.6), and Fetal Liver (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ECT2L Gene



Protein tissue co-expression partners for ECT2L Gene

NURSA nuclear receptor signaling pathways regulating expression of ECT2L Gene:

ECT2L

SOURCE GeneReport for Unigene cluster for ECT2L Gene:

Hs.660603

Evidence on tissue expression from TISSUES for ECT2L Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with ECT2L: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ECT2L Gene

Orthologs for ECT2L Gene

This gene was present in the common ancestor of chordates.

Orthologs for ECT2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ECT2L 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia ECT2L 33 34
  • 88.13 (n)
dog
(Canis familiaris)
Mammalia ECT2L 33
  • 87.66 (n)
mouse
(Mus musculus)
Mammalia Ect2l 33 16 34
  • 80.51 (n)
rat
(Rattus norvegicus)
Mammalia Ect2l 33
  • 80.27 (n)
oppossum
(Monodelphis domestica)
Mammalia ECT2L 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECT2L 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECT2L 34
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ect2l 33
  • 54.15 (n)
ECT2L 34
  • 46 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToMany
Species where no ortholog for ECT2L 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ECT2L Gene

ENSEMBL:
Gene Tree for ECT2L (if available)
TreeFam:
Gene Tree for ECT2L (if available)

Paralogs for ECT2L Gene

Paralogs for ECT2L Gene

(1) SIMAP similar genes for ECT2L Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ECT2L: view

Variants for ECT2L Gene

Sequence variations from dbSNP and Humsavar for ECT2L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs116211453 untested 138,838,444(+) CTTTT(C/T)CTTTT reference, missense
rs11968285 untested 138,881,071(+) ATGTC(A/G)CACCA reference, missense
rs138935097 untested 138,881,000(+) TAGAG(C/T)TGTCA reference, missense
rs139396585 untested 138,854,091(+) TAGGA(A/T)GCTAT reference, missense
rs142505459 untested 138,846,613(+) TGATG(A/G)CAGAT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ECT2L Gene

Variant ID Type Subtype PubMed ID
esv2665720 CNV deletion 23128226
esv3610963 CNV loss 21293372
nsv1140703 CNV deletion 24896259
nsv473549 CNV novel sequence insertion 20440878
nsv5500 CNV insertion 18451855
nsv981190 CNV duplication 23825009

Variation tolerance for ECT2L Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.14; 84.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECT2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECT2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECT2L Gene

Disorders for ECT2L Gene

Relevant External Links for ECT2L

Genetic Association Database (GAD)
ECT2L
Human Genome Epidemiology (HuGE) Navigator
ECT2L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECT2L

No disorders were found for ECT2L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECT2L Gene

Publications for ECT2L 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60

Products for ECT2L Gene

Sources for ECT2L Gene

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