Gene Gene information from NCBI Gene database.
Entrez ID 10278
Gene name Embryonal Fyn-associated substrate
Gene symbol EFS
Synonyms (NCBI Gene)
CAS3CASS3EFS1EFS2HEFSSIN
Chromosome 14
Chromosome location 14q11.2
Summary The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin bindin
miRNA miRNA information provided by mirtarbase database.
49
miRTarBase ID miRNA Experiments Reference
MIRT016538 hsa-miR-193b-3p Microarray 20304954
MIRT954629 hsa-miR-1293 CLIP-seq
MIRT954630 hsa-miR-299-3p CLIP-seq
MIRT954631 hsa-miR-3180-5p CLIP-seq
MIRT954632 hsa-miR-4257 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 26871637, 29892012, 31515488, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm TAS 9349509
GO:0005886 Component Plasma membrane IBA
GO:0005925 Component Focal adhesion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609906 16898 ENSG00000100842
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43281
Protein name Embryonal Fyn-associated substrate (hEFS) (Cas scaffolding protein family member 3)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 12 64 Variant SH3 domain Domain
PF12026 CAS_C 371 556 Crk-Associated Substrate C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: The protein has been detected in lung and placenta.
Sequence
MAIATSTQLARALYDNTAESPQELSFRRGDVLRVLQREGAGGLDGWCLCSLHGQQGIVPA
NRVK
LLPAGPAPKPSLSPASPAQPGSPYPAPDHSNEDQEVYVVPPPARPCPTSGPPAGPC
PPSPDLIYKIPRASGTQLAAPRDALEVYDVPPTALRVPSSGPYDCPASFSHPLTRVAPQP
PGEDDAPYDVPLTPKPPAELEPDLEWEGGREPGPPIYAAPSNLKRASALLNLYEAPEELL
ADGEGGGTDEGIYDVPLLGPEAPPSPEPPGALASHDQDTLAQLLARSPPPPHRPRLPSAE
SLSRRPLPALPVPEAPSPSPVPSPAPGRKGSIQDRPLPPPPPRLPGYGGPKVEGDPEGRE
MEDDPAGHHNEYEGIPMAEEYDYVHLKGMDKAQGSRPPDQACTGDPELPERGMPAPQEAL
SPGEPLVVSTGDLQLLYFYAGQCQSHYSALQAAVAALMSSTQANQPPRLFVPHSKRVVVA
AHRLVFVGDTLGRLAASAPLRAQVRAAGTALGQALRATVLAVKGAALGYPSSPAIQEMVQ
CVTELAGQALQFTTLL
TSLAP
Sequence length 561
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sarcoma Uncertain significance rs372971469 RCV005932458
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 31558162
Calcinosis Cutis Associate 21871071
Fetal Growth Retardation Associate 26830322
Glioma Associate 28032310, 32012853
Muscular Dystrophy Duchenne Associate 31811138, 37625413
Neoplasm Metastasis Associate 21871071
Neoplasms Associate 21871071
Prostatic Neoplasms Associate 19229700
Urinary Bladder Neoplasms Associate 27595989
Uveal melanoma Associate 21871071