Gene Gene information from NCBI Gene database.
Entrez ID 2000
Gene name E74 like ETS transcription factor 4
Gene symbol ELF4
Synonyms (NCBI Gene)
AIFBL2ELFRMEF
Chromosome X
Chromosome location Xq26.1
Summary The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction o
miRNA miRNA information provided by mirtarbase database.
474
miRTarBase ID miRNA Experiments Reference
MIRT002580 hsa-miR-124-3p Microarray 15685193
MIRT002580 hsa-miR-124-3p Microarray 15685193
MIRT002580 hsa-miR-124-3p Microarray 18668037
MIRT029730 hsa-miR-26b-5p Microarray 19088304
MIRT050308 hsa-miR-25-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
NPM1 Unknown 23393136
SP1 Activation 15907486
TP53 Unknown 20805247
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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 14625302
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 IDA 14625302
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300775 3319 ENSG00000102034
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99607
Protein name ETS-related transcription factor Elf-4 (E74-like factor 4) (Myeloid Elf-1-like factor)
Protein function Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the hematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to tran
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12310 Elf-1_N 2 104 Transcription factor protein N terminal Family
PF00178 Ets 210 291 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in the placenta and in a variety of myeloid leukemia cell lines. Moderate levels of expression in heart, lung, spleen, thymus, peripheral blood lymphocytes, ovary and colon. Lower levels of expression in Jurkat T-c
Sequence
MAITLQPSDLIFEFASNGMDDDIHQLEDPSVFPAVIVEQVPYPDLLHLYSGLELDDVHNG
IITDGTLCMTQDQILEGSFLLTDDNEATSHTMSTAEVLLNMESP
SDILDEKQIFSTSEML
PDSDPAPAVTLPNYLFPASEPDALNRAGDTSDQEGHSLEEKASREESAKKTGKSKKRIRK
TKGNRSTSPVTDPSIPIRKKSKDGKGSTIYLWEFLLALLQDRNTCPKYIKWTQREKGIFK
LVDSKAVSKLWGKQKNKPDMNYETMGRALRYYYQRGILAKVEGQRLVYQFK
EMPKDLVVI
EDEDESSEATAAPPQASTASVASASTTRRTSSRVSSRSAPQGKGSSSWEKPKIQHVGLQP
SASLELGPSLDEEIPTTSTMLVSPAEGQVKLTKAVSASSVPSNIHLGVAPVGSGSALTLQ
TIPLTTVLTNGPPASTTAPTQLVLQSVPAASTFKDTFTLQASFPLNASFQDSQVAAPGAP
LILSGLPQLLAGANRPTNPAPPTVTGAGPAGPSSQPPGTVIAAFIRTSGTTAAPRVKEGP
LRSSSYVQGMVTGAPMEGLLVPEETLRELLRDQAHLQPLPTQVVSRGSHNPSLLGNQTLS
PPSRPTVGLTPVAELELSSGSGSLLMAEPSVTTSGSLLTRSPTPAPFSPFNPTSLIKMEP
HDI
Sequence length 663
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Pathogenic rs137884184 RCV005931786
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 Pathogenic rs2124614205, rs2124612467, rs2124614270 RCV002221446
RCV002221447
RCV002221448
See cases Pathogenic rs137884184 RCV002308731
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ELF4-related disorder Likely benign; Benign rs752988784, rs141284451 RCV003944684
RCV003928410
Thyroid cancer, nonmedullary, 1 Benign rs150084985 RCV005902968
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 19457610
Carcinoma Hepatocellular Associate 32170761
Cholangiocarcinoma Associate 36158120
Colorectal Neoplasms Associate 36923538
Delirium Associate 29991314
Familial Mediterranean Fever Associate 9152834
Glioblastoma Associate 35862252
Glioma Associate 35862252
Hereditary Autoinflammatory Diseases Associate 36263058
Inflammation Associate 37942546