Gene Gene information from NCBI Gene database.
Entrez ID 51513
Gene name ETS variant transcription factor 7
Gene symbol ETV7
Synonyms (NCBI Gene)
TEL-2TEL2TELB
Chromosome 6
Chromosome location 6p21.31
Summary The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and di
miRNA miRNA information provided by mirtarbase database.
47
miRTarBase ID miRNA Experiments Reference
MIRT023696 hsa-miR-1-3p Microarray 18668037
MIRT488939 hsa-miR-483-5p PAR-CLIP 23592263
MIRT488938 hsa-miR-922 PAR-CLIP 23592263
MIRT488937 hsa-miR-148a-3p PAR-CLIP 23592263
MIRT488936 hsa-miR-148b-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11108721
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 11108721
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
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
605255 18160 ENSG00000010030
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y603
Protein name Transcription factor ETV7 (ETS translocation variant 7) (ETS-related protein Tel2) (Tel-related Ets factor) (Transcription factor Tel-2)
Protein function Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.
PDB 9HK0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 39 117 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 225 305 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in hematopoietic tissues.
Sequence
MQEGELAISPISPVAAMPPLGTHVQARCEAQINLLGEGGICKLPGRLRIQPALWSREDVL
HWLRWAEQEYSLPCTAEHGFEMNGRALCILTKDDFRHRAPSSGDVLYELLQYIKTQR
RAL
VCGPFFGGIFRLKTPTQHSPVPPEEVTGPSQMDTRRGHLLQPPDPGLTSNFGHLDDPGLA
RWTPGKEESLNLCHCAELGCRTQGVCSFPAMPQAPIDGRIADCRLLWDYVYQLLLDTRYE
PYIKWEDKDAKIFRVVDPNGLARLWGNHKNRVNMTYEKMSRALRHYYKLNIIKKEPGQKL
LFRFL
KTPGKMVQDKHSHLEPLESQEQDRIEFKDKRPEISP
Sequence length 341
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.).
2
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
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 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
Breast Carcinoma Breast Carcinoma BEFREE 30025229
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17172821, 37041130 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30025229, 34315857 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 17172821 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 32908909 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38200280 Stimulate
★☆☆☆☆
Found in Text Mining only
Hematopoietic Neoplasms Hematopoietic Neoplasms BEFREE 30478527
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 30025229 Associate
★☆☆☆☆
Found in Text Mining only
Hyperuricemia Hyperuricemia Pubtator 39746786 Associate
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 15342392, 16234363
★☆☆☆☆
Found in Text Mining only