Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2120
Gene name Gene Name - the full gene name approved by the HGNC.
ETS variant transcription factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ETV6
Synonyms (NCBI Gene) Gene synonyms aliases
TEL, TEL/ABL, THC5
Disease Acronyms (UniProt) Disease acronyms from UniProt database
THC5
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004050 hsa-miR-129-5p In situ hybridization, Microarray, qRT-PCR 19487295
MIRT004050 hsa-miR-129-5p In situ hybridization, Microarray, qRT-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 factor Regulation Reference
ETV7 Unknown 22615925
STAT3 Activation 15229229
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600618 3495 ENSG00000139083
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Juvenile arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 19565504
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684 23491079
Colonic neoplasms Malignant tumor of colon rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 27145994
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
27145994
Unknown
Disease term Disease name Evidence References Source
Hypereosinophilic syndrome Primary hypereosinophilic syndrome ClinVar
Myeloid Leukemia acute myeloid leukemia KAT2A inhibition demonstrated anti-AML activity by inducing myeloid differentiation and apoptosis. GenCC, CBGDA
Asthma Asthma GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Associations from Text Mining
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