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Aliases for EFS Gene

Aliases for EFS Gene

  • Embryonal Fyn-Associated Substrate 2 3 5
  • Cas Scaffolding Protein Family Member 3 2 3 4
  • CASS3 3 4
  • HEFS 3 4
  • Signal Transduction Protein (SH3 Containing) 3
  • CAS3 3
  • EFS1 3
  • EFS2 3
  • SIN 3

External Ids for EFS Gene

Previous GeneCards Identifiers for EFS Gene

  • GC14M017612
  • GC14M021815
  • GC14M022895
  • GC14M023825
  • GC14M003942

Summaries for EFS Gene

Entrez Gene Summary for EFS Gene

  • The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]

GeneCards Summary for EFS Gene

EFS (Embryonal Fyn-Associated Substrate) is a Protein Coding gene. Diseases associated with EFS include mitral valve insufficiency and anteroseptal myocardial infarction. GO annotations related to this gene include protein domain specific binding and SH3 domain binding. An important paralog of this gene is NEDD9.

UniProtKB/Swiss-Prot for EFS Gene

  • Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFS Gene

Genomics for EFS Gene

Regulatory Elements for EFS Gene

Promoters for EFS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFS on UCSC Golden Path with GeneCards custom track

Genomic Location for EFS Gene

Chromosome:
14
Start:
23,356,400 bp from pter
End:
23,365,752 bp from pter
Size:
9,353 bases
Orientation:
Minus strand

Genomic View for EFS Gene

Genes around EFS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EFS Gene

Proteins for EFS Gene

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

    Protein Symbol:
    O43281-EFS_HUMAN
    Recommended name:
    Embryonal Fyn-associated substrate
    Protein Accession:
    O43281
    Secondary Accessions:
    • B2RAJ7
    • B4DJ56
    • E9PGU2
    • O43282

    Protein attributes for EFS Gene

    Size:
    561 amino acids
    Molecular mass:
    58815 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EFS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFS Gene

Proteomics data for EFS Gene at MOPED

Post-translational modifications for EFS Gene

  • Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFS Gene

No data available for DME Specific Peptides for EFS Gene

Domains & Families for EFS Gene

Gene Families for EFS Gene

Protein Domains for EFS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EFS Gene

Graphical View of Domain Structure for InterPro Entry

O43281

UniProtKB/Swiss-Prot:

EFS_HUMAN :
  • Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL SH2 domains.
  • Belongs to the CAS family.
Domain:
  • Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL SH2 domains.
  • The SH3-binding sites that bind to the SRC SH3 domain are required for interaction with CRK and are implicated in promotion of serum response element (SRE) activation. The SH3 domain interacts with PTK2/FAK1.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the CAS family.
genes like me logo Genes that share domains with EFS: view

Function for EFS Gene

Molecular function for EFS Gene

GENATLAS Biochemistry:
mouse Efs,embryonal Fyn associated substrate,with two alternatively spliced forms (EFS1 and EFS2),widely expressed,involved in signal transduction
UniProtKB/Swiss-Prot Function:
Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity).

Gene Ontology (GO) - Molecular Function for EFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with EFS: view
genes like me logo Genes that share phenotypes with EFS: view

Animal Models for EFS Gene

MGI Knock Outs for EFS:

Animal Model Products

miRNA for EFS Gene

miRTarBase miRNAs that target EFS

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

Localization for EFS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFS Gene COMPARTMENTS Subcellular localization image for EFS gene
Compartment Confidence
cytosol 3
nucleus 3
chloroplast 2
extracellular 2
cytoskeleton 1
mitochondrion 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFS Gene

Pathways & Interactions for EFS Gene

SuperPathways for EFS Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFS Gene

None

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

Drugs & Compounds for EFS Gene

(24) Drugs for EFS Gene - From: Novoseek and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparaginase Approved Pharma 201
Dexamethasone Approved, Investigational Pharma Agonist 1909
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1582
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1582
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR, Cytotoxic agent 1444

(9) Additional Compounds for EFS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EFS: view

Transcripts for EFS Gene

Unigene Clusters for EFS Gene

Embryonal Fyn-associated substrate:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1:
SP2: -
SP3:

Relevant External Links for EFS Gene

GeneLoc Exon Structure for
EFS
ECgene alternative splicing isoforms for
EFS

Expression for EFS Gene

mRNA expression in normal human tissues for EFS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EFS Gene

This gene is overexpressed in Neutrophil (25.9), Placenta (13.2), Monocytes (7.9), Fetal heart (7.7), and Peripheral blood mononuclear cells (6.9).

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



SOURCE GeneReport for Unigene cluster for EFS Gene Hs.24587

mRNA Expression by UniProt/SwissProt for EFS Gene

O43281-EFS_HUMAN
Tissue specificity: The protein has been detected in lung and placenta.
genes like me logo Genes that share expression patterns with EFS: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for EFS Gene

Orthologs for EFS Gene

This gene was present in the common ancestor of animals.

Orthologs for EFS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EFS 35
  • 86.87 (n)
  • 86.45 (a)
EFS 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFS 35
  • 87.52 (n)
  • 87.7 (a)
EFS 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efs 35
  • 80.48 (n)
  • 79.82 (a)
Efs 16
Efs 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFS 35
  • 99.29 (n)
  • 99.46 (a)
EFS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efs 35
  • 81.07 (n)
  • 80.36 (a)
oppossum
(Monodelphis domestica)
Mammalia EFS 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia EFS 36
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR388231.3 36
  • 20 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta p130CAS 36
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6681 36
  • 18 (a)
OneToMany
Species with no ortholog for EFS:
  • 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)
  • 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 EFS Gene

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

Paralogs for EFS Gene

Paralogs for EFS Gene

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

Variants for EFS Gene

Sequence variations from dbSNP and Humsavar for EFS Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_035912 A colorectal cancer sample
rs2231798 - 23,360,833(-) ACCAG(A/G)CCCAG intron-variant, reference, missense
rs2231801 - 23,360,281(-) CTCAG(A/G)TGTAT reference, missense
rs178631 -- 23,366,316(+) TAAGA(A/G)AAAGg upstream-variant-2KB
rs178632 -- 23,366,865(+) AGTCT(G/T)GGCCT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv901493 CNV Loss 21882294

Variation tolerance for EFS Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.94; 96.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFS Gene

HapMap Linkage Disequilibrium report
EFS

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

Disorders for EFS Gene

MalaCards: The human disease database

(4) MalaCards diseases for EFS Gene - From: DISEASES

Disorder Aliases PubMed IDs
mitral valve insufficiency
  • congenital insufficiency of mitral valve
anteroseptal myocardial infarction
ocular hyperemia
  • hyperemia eye
heart valve disease
  • valvular heart disease
- elite association - COSMIC cancer census association via MalaCards
Search EFS in MalaCards View complete list of genes associated with diseases

Relevant External Links for EFS

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

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

Publications for EFS Gene

  1. Identification of an Efs isoform that lacks the SH3 domain and chromosomal mapping of human Efs. (PMID: 9349509) Ishino M. … Sasaki T. (Oncogene 1997) 2 3 4 23 67
  2. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PMID: 11984006) Tchernev V.T. … Kingsmore S.F. (Mol. Med. 2002) 3 23
  3. Coordinate activation of c-Src by SH3- and SH2-binding sites on a novel p130Cas-related protein, Sin. (PMID: 8647432) Alexandropoulos K. … Baltimore D. (Genes Dev. 1996) 3 23
  4. Decreased expression of EFS is correlated with the advanced prostate cancer. (PMID: 25296736) Sertkaya S. … Varisli L. (Tumour Biol. 2015) 3
  5. Embryonal Fyn-associated substrate (EFS) and CASS4: The lesser-known CAS protein family members. (PMID: 26119091) Deneka A. … Golemis E.A. (Gene 2015) 3

Products for EFS Gene

Sources for EFS Gene

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