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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
41
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
Abnormal bleeding Likely pathogenic rs1946357179 RCV001270548
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute lymphoid leukemia Likely pathogenic rs786205155 RCV000170464
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia Likely pathogenic; Pathogenic rs724159947, rs121434637, rs587776710 RCV001281572
RCV000009547
RCV000009548
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ETV6-related disorder Likely pathogenic; Pathogenic rs724159946, rs2498080633, rs962863191, rs2136596089, rs1946357179 RCV003415987
RCV003400292
RCV003983454
RCV004755047
RCV003399045
★★★★★
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL THROMBOCYTOPENIA WITH NORMAL PLATELETS Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T Orphanet
★★☆☆☆
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
Abetalipoproteinemia Abetalipoproteinemia BEFREE 19480935
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10502316
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10534771, 12124316, 12555218, 12823350, 18281529, 18992913, 20589932, 27229714, 27620872, 29894279, 9060558, 9264392, 9523202, 9529134
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10049054, 10049055, 10419898, 10551495, 10557042, 10573134, 10583273, 10774753, 10914546, 11091202, 11106815, 11167743, 11406533, 11426627, 11432885
View all (182 more)
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 15561678, 18940475
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia LHGDN 18940475
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15514005
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG
★☆☆☆☆
Found in Text Mining only