Gene Gene information from NCBI Gene database.
Entrez ID 2119
Gene name ETS variant transcription factor 5
Gene symbol ETV5
Synonyms (NCBI Gene)
ERM
Chromosome 3
Chromosome location 3q27.2
miRNA miRNA information provided by mirtarbase database.
250
miRTarBase ID miRNA Experiments Reference
MIRT017311 hsa-miR-335-5p Microarray 18185580
MIRT530651 hsa-miR-4453 PAR-CLIP 22012620
MIRT530650 hsa-miR-4538 PAR-CLIP 22012620
MIRT530649 hsa-miR-1539 PAR-CLIP 22012620
MIRT530648 hsa-miR-5689 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 17126306
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 19443906
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP 15857832
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601600 3494 ENSG00000244405
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41161
Protein name ETS translocation variant 5 (Ets-related protein ERM)
Protein function Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'.
PDB 4UNO , 5ILV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04621 ETS_PEA3_N 1 366 PEA3 subfamily ETS-domain transcription factor N terminal domain Family
PF00178 Ets 369 448 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 510
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Transcriptional misregulation in cancer
Prostate cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Myoepithelial tumor Pathogenic rs772183700 RCV002463939
★★★★☆
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ETV5-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER 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 pancreatitis Pancreatitis BEFREE 29532564
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11092524
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 24756106
★☆☆☆☆
Found in Text Mining only
Atrioventricular Septal Defect Atrioventricular septal defect BEFREE 31322043
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 24117813, 28855737
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 22771031 Associate
★☆☆☆☆
Found in Text Mining only
Azoospermia, Nonobstructive Azoospermia BEFREE 22771031
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 12036888
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 27280443, 31754094
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 31754094 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations