Gene Gene information from NCBI Gene database.
Entrez ID 2120
Gene name ETS variant transcription factor 6
Gene symbol ETV6
Synonyms (NCBI Gene)
TELTEL/ABLTHC5
Chromosome 12
Chromosome location 12p13.2
Summary This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs121434637 G>T Pathogenic Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs587776710 ->GGG Pathogenic Coding sequence variant, inframe indel
rs724159945 C>A,T Pathogenic Coding sequence variant, missense variant
rs724159946 G>A Pathogenic Coding sequence variant, missense variant
rs724159947 C>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
664
miRTarBase ID miRNA Experiments Reference
MIRT004050 hsa-miR-129-5p In situ hybridizationMicroarrayqRT-PCR 19487295
MIRT004050 hsa-miR-129-5p In situ hybridizationMicroarrayqRT-PCR 19487295
MIRT048962 hsa-miR-92a-3p CLASH 23622248
MIRT044195 hsa-miR-99b-5p CLASH 23622248
MIRT038363 hsa-miR-296-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ETV7 Unknown 22615925
STAT3 Activation 15229229
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10514502
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 10514502
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9018121
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600618 3495 ENSG00000139083
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41212
Protein name Transcription factor ETV6 (ETS translocation variant 6) (ETS-related protein Tel1) (Tel)
Protein function Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation.
PDB 1JI7 , 1LKY , 2DAO , 2QAR , 2QB0 , 2QB1 , 5L0P , 7JU2 , 7N1O , 7N2B , 7T8J , 7TDY , 7TW7 , 7TW8 , 7TW9 , 7U4W , 7U4Z , 8BWU , 8E1F , 8FRJ , 8FRK , 8FT6 , 8FT8 , 8FZ3 , 8FZU , 8FZV , 8THA , 9DAM , 9DB5 , 9DOC , 9DP8 , 9DVG , 9FEH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 38 124 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 340 420 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIY
WSRDDVAQWLKWAENEFSLRPIDSNTFEMNGKALLLLTKEDFRYRSPHSGDVLYELLQHI
LKQR
KPRILFSPFFHPGNSIHTQPEVILHQNHEEDNCVQRTPRPSVDNVHHNPPTIELLH
RSRSPITTNHRPSPDPEQRPLRSPLDNMIRRLSPAERAQGPRPHQENNHQESYPLSVSPM
ENNHCPASSESHPKPSSPRQESTRVIQLMPSPIMHPLILNPRHSVDFKQSRLSEDGLHRE
GKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIADCRLLWDYVYQLLSDSRYENFIRW
EDKESKIFRIVDPNGLARLWGNHKNRTNMTYEKMSRALRHYYKLNIIRKEPGQRLLFRFM

KTPDEIMSGRTDRLEHLESQELDEQIYQEDEC
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Transcriptional misregulation in cancer   Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
112
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Likely pathogenic rs1946357179 RCV001270548
Acute lymphoid leukemia Likely pathogenic rs786205155 RCV000170464
Acute myeloid leukemia Likely pathogenic; Pathogenic rs724159947, rs121434637, rs587776710 RCV001281572
RCV000009547
RCV000009548
ETV6-related disorder Likely pathogenic; Pathogenic rs724159946, rs2498080633, rs962863191, rs2136596089, rs1946357179 RCV003415987
RCV003400292
RCV003983454
RCV004755047
RCV003399045
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs113420500 RCV005933068
EBV-positive nodal T- and NK-cell lymphoma Conflicting classifications of pathogenicity rs1007158603 RCV004560256
Melanoma Benign; Likely benign rs72550786 RCV005922691
Sarcoma Likely benign rs113420500 RCV005933069
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 17374122
Acute erythroleukemia Associate 21401966
Anemia Refractory Associate 27663637
Angioedema Associate 23838604
Ataxia Telangiectasia Associate 10454554, 7545545
Blast Crisis Associate 12823349
Blood Platelet Disorders Associate 27663637, 32406789
Bone Diseases Metabolic Associate 22715224
Brain Injuries Associate 9651344
Brain Neoplasms Inhibit 12588862