Aliases for ECT2L Gene

Aliases for ECT2L Gene

  • Epithelial Cell Transforming 2 Like 2 3 5
  • LFDH 2 3 4
  • Epithelial Cell-Transforming Sequence 2 Oncogene-Like 3 4
  • 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
  • ARHGEF32 2 3
  • C6orf91 3 4
  • FBXO49 2 3
  • Epithelial Cell Transforming Sequence 2 Oncogene-Like 2
  • 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
  • ECT2L 5

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. Diseases associated with ECT2L include Combined Oxidative Phosphorylation Deficiency 9. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD6.

UniProtKB/Swiss-Prot Summary for ECT2L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ECT2L Gene

Genomics for ECT2L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ECT2L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J138795 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 611.8 +0.3 290 1.6 RNF2 POLR2A YY1 ZBTB33 TAF1 TBP USF2 ECT2L ACKR4P1 REPS1
GH06J138772 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.2 -22.3 -22310 2.4 BRCA1 SP1 CREB1 ATF7 PRDM10 REST ZNF629 RFX1 SIX5 POLR2A CCDC28A CCDC28A-AS1 ECT2L
GH06J138816 Enhancer 0.9 ENCODE 11.9 +22.9 22888 5.3 CREB1 CTCF TARDBP ZHX2 FOXA1 STAT3 RELA RXRB REST RAD21 REPS1 ECT2L ACKR4P1 lnc-GVQW2-3
GH06J139131 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.3 +340.3 340290 9.2 BRCA1 SP1 CREB1 GATAD2A HNRNPL ATF7 PRDM10 ZNF629 ZNF692 BACH1 HECA ENSG00000226571 REPS1 ABRACL TXLNB ECT2L piR-47675-094 RF00017-5814 MN297907-011
GH06J139111 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 10 +317.4 317417 3.6 ZSCAN4 OSR2 SPI1 SP7 HECA ECT2L ENSG00000226571 ABRACL REPS1 lnc-ABRACL-2 RF00017-5814 MN297907-011
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECT2L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ECT2L

Top Transcription factor binding sites by QIAGEN in the ECT2L gene promoter:
  • C/EBPalpha
  • FOXC1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • FOXO4
  • HFH-1
  • Msx-1
  • POU6F1 (c2)
  • S8

Genomic Locations for ECT2L Gene

Genomic Locations for ECT2L Gene
chr6:138,795,911-138,904,070
(GRCh38/hg38)
Size:
108,160 bases
Orientation:
Plus strand
chr6:139,117,063-139,225,207
(GRCh37/hg19)
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):
  • Predicted intracellular proteins

Protein Domains for ECT2L Gene

Suggested Antigen Peptide Sequences for ECT2L Gene

GenScript: Design optimal peptide antigens:
  • Putative guanine nucleotide exchange factor LFDH (ECT2L_HUMAN)
genes like me logo Genes that share domains with ECT2L: view

No data available for Graphical View of Domain Structure and 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:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ECT2L: view
genes like me logo Genes that share phenotypes with ECT2L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECT2L

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
cytosol 2
cytoskeleton 1
mitochondrion 1
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

PathCards logo

SuperPathways for ECT2L Gene

No Data Available

Gene Ontology (GO) - Biological Process for ECT2L Gene

None

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

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ECT2L

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

No ASD Table

Relevant External Links for ECT2L Gene

GeneLoc Exon Structure for
ECT2L

Expression for ECT2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ECT2L 30 31
  • 88.13 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ECT2L 30
  • 87.66 (n)
Mouse
(Mus musculus)
Mammalia Ect2l 30 17 31
  • 80.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ect2l 30
  • 80.27 (n)
Oppossum
(Monodelphis domestica)
Mammalia ECT2L 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ECT2L 31
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ECT2L 31
  • 52 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ect2l 30
  • 54.15 (n)
ECT2L 31
  • 46 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToMany
Species where no ortholog for ECT2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ECT2L: view image

Paralogs for ECT2L Gene

Paralogs for ECT2L Gene

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

  • ECT2L_HUMAN
  • B7ZBI6_HUMAN
  • F5H7S9_HUMAN
genes like me logo Genes that share paralogs with ECT2L: view

Variants for ECT2L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ECT2L Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs116211453 Not Provided: not specified 138,838,444(+) C/T MISSENSE_VARIANT
rs11968285 Not Provided: not specified. - 138,881,071(+) G/Ap.Ala594Thr MISSENSE_VARIANT
rs138935097 Not Provided: not specified 138,881,000(+) T/C MISSENSE_VARIANT
rs139396585 Not Provided: not specified 138,854,091(+) A/T MISSENSE_VARIANT
rs142505459 Not Provided: not specified 138,846,613(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ECT2L Gene

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)

Additional Variant Information for ECT2L Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ECT2L Gene

MalaCards: The human disease database

(1) MalaCards diseases for ECT2L Gene - From: DISEASES

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 9
  • coxpd9
- elite association - COSMIC cancer census association via MalaCards
Search ECT2L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ECT2L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ECT2L: view

No data available for 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 41
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  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
  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

Products for ECT2L Gene

Sources for ECT2L Gene