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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 Ocular Hyperemia. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and SH3 domain binding. An important paralog of this gene is BCAR1.

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).

Additional gene information for EFS Gene

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

Genomics for EFS Gene

GeneHancer (GH) Regulatory Elements for EFS Gene

Promoters and enhancers for EFS 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
GH14I023363 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 558.2 -0.1 -77 4.5 SMARCE1 MEIS2 PKNOX1 POLR2A ZNF143 SIN3A ZSCAN29 ZFX EGR2 EFS DHRS1 IL25
GH14I024187 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 18 -822.6 -822558 2.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 IPO4 NGDN RNA5SP383 KHNYN RNF31 NFATC4 LOC102724814 ENSG00000259321 SDR39U1 SLC22A17
GH14I022835 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.4 +527.9 527942 5.4 ARID4B SIN3A YBX1 PLRG1 DMAP1 ZNF48 RAD21 YY1 RUNX3 PAF1 MMP14 NGDN ACIN1 MRPL52 LOC102724814 PRMT5 EFS RBM23 HAUS4 C14orf93
GH14I024091 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 9.9 -727.9 -727895 6.5 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 PCK2 RNA5SP383 NGDN ACIN1 NYNRIN NFATC4 KHNYN IPO4 SLC7A8 TINF2
GH14I023297 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.1 +65.1 65052 5.5 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 BCL2L2 HOMEZ PIR57322 PPP1R3E ACIN1 RNA5SP383 RNF31 LOC102724814 ENSG00000259321 RBM23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFS gene promoter:

Genomic Locations for EFS Gene

Genomic Locations for EFS Gene
chr14:23,356,400-23,365,752
(GRCh38/hg38)
Size:
9,353 bases
Orientation:
Minus strand
chr14:23,825,611-23,834,961
(GRCh37/hg19)

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

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

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

Protein Domains for EFS Gene

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.
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).

Phenotypes From GWAS Catalog for EFS Gene

Gene Ontology (GO) - Molecular Function for EFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0017124 SH3 domain binding IEA --
GO:0019904 protein domain specific binding IPI 11984006
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

CRISPR Products

miRNA for EFS Gene

miRTarBase miRNAs that target EFS

Inhibitory RNA Products

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
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 EFS gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9349509
genes like me logo Genes that share ontologies with EFS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EFS Gene

Pathways & Interactions for EFS Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0035556 intracellular signal transduction TAS 9349509
genes like me logo Genes that share ontologies with EFS: view

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

Drugs & Compounds for EFS Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparaginase Approved, Investigational Pharma 238
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist 2314
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1828
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1828
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603

(8) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EFS Gene



NURSA nuclear receptor signaling pathways regulating expression of EFS Gene:

EFS

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.

Evidence on tissue expression from TISSUES for EFS Gene

  • Nervous system(4.8)
  • Blood(3)
  • Heart(2.4)
  • Skin(2.3)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with EFS: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia EFS 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia EFS 33 34
  • 87.52 (n)
cow
(Bos Taurus)
Mammalia EFS 33 34
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Efs 33
  • 81.07 (n)
mouse
(Mus musculus)
Mammalia Efs 33 16 34
  • 80.48 (n)
oppossum
(Monodelphis domestica)
Mammalia EFS 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 20 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia EFS 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CR388231.3 34
  • 20 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta p130CAS 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6681 34
  • 18 (a)
OneToMany
Species where no ortholog for EFS 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)
  • 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 Variation AA Info Type
VAR_035912 A colorectal cancer sample p.Met361Ile
rs1000118659 -- 23,361,148(-) T/G intron_variant
rs1000126704 -- 23,356,000(-) A/G downstream_transcript_variant
rs1000196687 -- 23,355,999(-) T/A downstream_transcript_variant
rs1000306336 -- 23,367,091(-) C/G upstream_transcript_variant

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)

Additional Variant Information for EFS Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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
ocular hyperemia
  • hyperemia eye
anteroseptal myocardial infarction
aortic valve disease 1
  • aovd1
- elite association - COSMIC cancer census association via MalaCards
Search EFS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 22 58
  2. 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) 3 4 58
  3. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (PMID: 11984006) Tchernev VT … Kingsmore SF (Molecular medicine (Cambridge, Mass.) 2002) 3 22 58
  4. 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 & development 1996) 3 22 58
  5. Decreased expression of EFS is correlated with the advanced prostate cancer. (PMID: 25296736) Sertkaya S … Varisli L (Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2015) 3 58

Products for EFS Gene

Sources for EFS Gene

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