EFS (embryonal Fyn-associated substrate)

Gene

• Entrez ID: 10278
• Gene name: Embryonal Fyn-associated substrate
• Gene symbol: EFS
• Synonyms (NCBI Gene): CAS3, CASS3, EFS1, EFS2, HEFS, SIN
• 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

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
MIRT954633	hsa-miR-4483	CLIP-seq
MIRT954634	hsa-miR-4491	CLIP-seq
MIRT954635	hsa-miR-4536	CLIP-seq
MIRT954636	hsa-miR-4657	CLIP-seq
MIRT954637	hsa-miR-4726-3p	CLIP-seq
MIRT954638	hsa-miR-520a-5p	CLIP-seq
MIRT954639	hsa-miR-525-5p	CLIP-seq
MIRT954640	hsa-miR-544	CLIP-seq
MIRT954641	hsa-miR-663b	CLIP-seq
MIRT1982737	hsa-miR-1207-5p	CLIP-seq
MIRT1982738	hsa-miR-183	CLIP-seq
MIRT1982739	hsa-miR-330-3p	CLIP-seq
MIRT1982740	hsa-miR-4307	CLIP-seq
MIRT1982741	hsa-miR-4736	CLIP-seq
MIRT1982742	hsa-miR-4763-3p	CLIP-seq
MIRT1982743	hsa-miR-657	CLIP-seq
MIRT1982739	hsa-miR-330-3p	CLIP-seq
MIRT2217602	hsa-miR-4677-3p	CLIP-seq
MIRT2217603	hsa-miR-4679	CLIP-seq
MIRT2387245	hsa-miR-4326	CLIP-seq
MIRT2521633	hsa-miR-1178	CLIP-seq
MIRT2521634	hsa-miR-29a	CLIP-seq
MIRT2521635	hsa-miR-29b	CLIP-seq
MIRT2521636	hsa-miR-29c	CLIP-seq
MIRT2521637	hsa-miR-3663-3p	CLIP-seq
MIRT2521638	hsa-miR-4446-3p	CLIP-seq
MIRT2521639	hsa-miR-4663	CLIP-seq
MIRT2521640	hsa-miR-4685-5p	CLIP-seq
MIRT2521641	hsa-miR-4733-3p	CLIP-seq
MIRT2521642	hsa-miR-604	CLIP-seq
MIRT2521643	hsa-miR-647	CLIP-seq
MIRT2521644	hsa-miR-767-3p	CLIP-seq
MIRT2521633	hsa-miR-1178	CLIP-seq
MIRT2521634	hsa-miR-29a	CLIP-seq
MIRT2521635	hsa-miR-29b	CLIP-seq
MIRT2521636	hsa-miR-29c	CLIP-seq
MIRT2521637	hsa-miR-3663-3p	CLIP-seq
MIRT2521638	hsa-miR-4446-3p	CLIP-seq
MIRT2521639	hsa-miR-4663	CLIP-seq
MIRT2521640	hsa-miR-4685-5p	CLIP-seq
MIRT2521641	hsa-miR-4733-3p	CLIP-seq
MIRT2521642	hsa-miR-604	CLIP-seq
MIRT2521643	hsa-miR-647	CLIP-seq
MIRT2521644	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

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
GO:0007155	Process	Cell adhesion	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0016477	Process	Cell migration	IBA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0035556	Process	Intracellular signal transduction	TAS	9349509

Other IDs

• MIM: 609906
• HGNC: 16898
• e!Ensembl: ENSG00000100842

Protein

• UniProt ID: 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
  NRVKLLPAGPAPKPSLSPASPAQPGSPYPAPDHSNEDQEVYVVPPPARPCPTSGPPAGPC
  PPSPDLIYKIPRASGTQLAAPRDALEVYDVPPTALRVPSSGPYDCPASFSHPLTRVAPQP
  PGEDDAPYDVPLTPKPPAELEPDLEWEGGREPGPPIYAAPSNLKRASALLNLYEAPEELL
  ADGEGGGTDEGIYDVPLLGPEAPPSPEPPGALASHDQDTLAQLLARSPPPPHRPRLPSAE
  SLSRRPLPALPVPEAPSPSPVPSPAPGRKGSIQDRPLPPPPPRLPGYGGPKVEGDPEGRE
  MEDDPAGHHNEYEGIPMAEEYDYVHLKGMDKAQGSRPPDQACTGDPELPERGMPAPQEAL
  SPGEPLVVSTGDLQLLYFYAGQCQSHYSALQAAVAALMSSTQANQPPRLFVPHSKRVVVA
  AHRLVFVGDTLGRLAASAPLRAQVRAAGTALGQALRATVLAVKGAALGYPSSPAIQEMVQ
  CVTELAGQALQFTTLLTSLAP

• Sequence length: 561

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15124702, 20806365, 26520622		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	18272813, 30089916		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15124702, 20806365, 26520622, 31675661		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	31686139		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29979097		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15124702, 20109966, 20806365, 26520622		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	31119613		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	31686139		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	23489116, 29410324		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24038759, 9266942		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	24932704		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29100345, 30689474		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	28387769		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	1384797		★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	28449306		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	BEFREE	22744966		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28032310, 32012853	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	28387769		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	31814291		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31208395		★☆☆☆☆ Found in Text Mining only
Kaposiform Hemangioendothelioma	Kaposiform Hemangioendothelioma	BEFREE	31814291		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	18272813, 21690555, 27916548, 28246275, 30089916, 31023266		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19856394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25296736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24220265		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22922684		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	31686139		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	31811138, 37625413	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11745206, 16645621, 19856394, 21871071, 22922684, 23531080, 23901000, 24220265, 25296736, 25862008, 26161395, 27784184, 28088319		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23970395, 31425556		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17075126, 23531080		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22922684		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	12668126		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25296736		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19229700	Associate	★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28798804		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	27388155		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24196235		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24220265		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	27853049		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27595989	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	21871071, 29578129		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	21871071	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	27918857		★☆☆☆☆ Found in Text Mining only