Gene Gene information from NCBI Gene database.
Entrez ID 2078
Gene name ETS transcription factor ERG
Gene symbol ERG
Synonyms (NCBI Gene)
LMPHM14erg-3p55
Chromosome 21
Chromosome location 21q22.2
Summary This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apo
miRNA miRNA information provided by mirtarbase database.
135
miRTarBase ID miRNA Experiments Reference
MIRT007094 hsa-miR-145-5p Luciferase reporter assay 23480797
MIRT016692 hsa-miR-133b Reporter assay 17344217
MIRT053340 hsa-miR-30a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23728339
MIRT053340 hsa-miR-30a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23728339
MIRT053341 hsa-miR-30b-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23728339
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
ERG Activation 21536859
ETS1 Activation 7731694
ETS2 Activation 7731694
FLI1 Activation 21536859
GATA3 Activation 21536859
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 23093599
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IMP 18195090
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
165080 3446 ENSG00000157554
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11308
Protein name Transcriptional regulator ERG (Transforming protein ERG)
Protein function Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.
PDB 1SXE , 4IRG , 4IRH , 4IRI , 5YBC , 5YBD , 6VGE , 6VGG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02198 SAM_PNT 122 205 Sterile alpha motif (SAM)/Pointed domain Domain
PF00178 Ets 319 398 Ets-domain Domain
Sequence
MASTIKEALSVVSEDQSLFECAYGTPHLAKTEMTASSSSDYGQTSKMSPRVPQQDWLSQP
PARVTIKMECNPSQVNGSRNSPDECSVAKGGKMVGSPDTVGMNYGSYMEEKHMPPPNMTT
NERRVIVPADPTLWSTDHVRQWLEWAVKEYGLPDVNILLFQNIDGKELCKMTKDDFQRLT
PSYNADILLSHLHYLRETPLPHLTS
DDVDKALQNSPRLMHARNTGGAAFIFPNTSVYPEA
TQRITTRPDLPYEPPRRSAWTGHGHPTPQSKAAQPSPSTVPKTEDQRPQLDPYQILGPTS
SRLANPGSGQIQLWQFLLELLSDSSNSSCITWEGTNGEFKMTDPDEVARRWGERKSKPNM
NYDKLSRALRYYYDKNIMTKVHGKRYAYKFDFHGIAQA
LQPHPPESSLYKYPSDLPYMGS
YHAHPQKMNFVAPHPPALPVTSSSFFAAPNPYWNSPTGGIYPNTRLPTSHMPSHLGTYY
Sequence length 479
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.).
30
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
Lymphatic malformation 14 Pathogenic rs2516996865, rs2517041339, rs1569069402 RCV003405191
RCV003405192
RCV003405216
★★★★☆
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
Acute lymphoid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA 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 Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 16140924
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 20570349, 20620604, 24504051, 29427188
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 16263589, 16954520, 17646667, 20570349, 20620604, 21390130, 2243505, 22869147, 24064621, 24504051, 27494621, 27776115, 28415578
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 21321361, 23380710, 25973911
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 22072540, 27851970
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 19822134
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 19822134
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 21544632, 23250622
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 23412561
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16575875
★☆☆☆☆
Found in Text Mining only