Gene Gene information from NCBI Gene database.
Entrez ID 2130
Gene name EWS RNA binding protein 1
Gene symbol EWSR1
Synonyms (NCBI Gene)
EWSEWS-FLI1
Chromosome 22
Chromosome location 22q12.2
Summary This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003712 Function Transcription coregulator activity IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133450 3508 ENSG00000182944
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01844
Protein name RNA-binding protein EWS (EWS oncogene) (Ewing sarcoma breakpoint region 1 protein)
Protein function Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Might normally function as a transcriptional repressor (PubMed:10767297). EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb ge
PDB 2CPE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 363 441 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00641 zf-RanBP 518 549 Zn-finger in Ran binding protein and others Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MASTDYSTYSQAAAQQGYSAYTAQPTQGYAQTTQAYGQQSYGTYGQPTDVSYTQAQTTAT
YGQTAYATSYGQPPTGYTTPTAPQAYSQPVQGYGTGAYDTTTATVTTTQASYAAQSAYGT
QPAYPAYGQQPAATAPTRPQDGNKPTETSQPQSSTGGYNQPSLGYGQSNYSYPQVPGSYP
MQPVTAPPSYPPTSYSSTQPTSYDQSSYSQQNTYGQPSSYGQQSSYGQQSSYGQQPPTSY
PPQTGSYSQAPSQYSQQSSSYGQQSSFRQDHPSSMGVYGQESGGFSGPGENRSMSGPDNR
GRGRGGFDRGGMSRGGRGGGRGGMGSAGERGGFNKPGGPMDEGPDLDLGPPVDPDEDSDN
SAIYVQGLNDSVTLDDLADFFKQCGVVKMNKRTGQPMIHIYLDKETGKPKGDATVSYEDP
PTAKAAVEWFDGKDFQGSKLK
VSLARKKPPMNSMRGGLPPREGRGMPPPLRGGPGGPGGP
GGPMGRMGGRGGDRGGFPPRGPRGSRGNPSGGGNVQHRAGDWQCPNPGCGNQNFAWRTEC
NQCKAPKPE
GFLPPPFPPPGGDRGRGGPGGMRGGRGGLMDRGGPGGMFRGGRGGDRGGFR
GGRGMDRGGFGGGRRGGPGGPPGPLMEQMGGRRGGRGGPGKMDKGEHRQERRDRPY
Sequence length 656
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity; Uncertain significance ClinVar
ClinGen, Disgenet, GenCC
ClinGen, Disgenet, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANGIOMATOID FIBROUS HISTIOCYTOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 12359745
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18383210
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 21484932, 22510762, 23426124, 25359601, 25581728, 25805066, 27769871, 27916624, 28009602, 28930752
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 25990369
★☆☆☆☆
Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor BEFREE 31812440
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 19704258, 20231617, 23185447
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 28630030 Associate
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 17016721, 29034595, 30285997
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 21856723, 22454397, 24011641, 25960086, 27311318, 28389532, 29425503, 29731676, 30209068, 30481590, 31171724
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GENOMICS_ENGLAND_DG 22454397
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)