Gene Gene information from NCBI Gene database.
Entrez ID 1998
Gene name E74 like ETS transcription factor 2
Gene symbol ELF2
Synonyms (NCBI Gene)
EU32NERFNERF-1ANERF-1BNERF-1abNERF-2
Chromosome 4
Chromosome location 4q31.1
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs747574524 C>T Likely-pathogenic Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
315
miRTarBase ID miRNA Experiments Reference
MIRT503896 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT503895 hsa-miR-567 HITS-CLIP 21572407
MIRT503894 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT503893 hsa-miR-3924 HITS-CLIP 21572407
MIRT503892 hsa-miR-297 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
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 IDA 8756667
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619798 3317 ENSG00000109381
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15723
Protein name ETS-related transcription factor Elf-2 (E74-like factor 2) (New ETS-related factor)
Protein function Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter.; Isoform 2 may function in repression of RUNX1-mediated transactivation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12310 Elf-1_N 3 108 Transcription factor protein N terminal Family
PF00178 Ets 209 290 Ets-domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all fetal and adult tissues examined. Among fetal tissues, highest levels of expression detected in heart, lung, liver and kidney, and lower levels in brain. Among adult tissues, highest levels of expression detected in he
Sequence
MTSAVVDSGGTILELSSNGVENQEESEKVSEYPAVIVEPVPSARLEQGYAAQVLVYDDET
YMMQDVAEEQEVETENVETVEASVHSSNAHCTDKTIEAAEALLHMESP
TCLRDSRSPVEV
FVPPCVSTPEFIHAAMRPDVITETVVEVSTEESEPMDTSPIPTSPDSHEPMKKKKVGRKP
KTQQSPISNGSPELGIKKKPREGKGNTTYLWEFLLDLLQDKNTCPRYIKWTQREKGIFKL
VDSKAVSKLWGKHKNKPDMNYETMGRALRYYYQRGILAKVEGQRLVYQFK
DMPKNIVVID
DDKSETCNEDLAGTTDEKSLERVSLSAESLLKAASSVRSGKNSSPINCSRAEKGVARVVN
ITSPGHDASSRSPTTTASVSATAAPRTVRVAMQVPVVMTSLGQKISTVAVQSVNAGAPLI
TSTSPTTATSPKVVIQTIPTVMPASTENGDKITMQPAKIITIPATQLAQCQLQTKSNLTG
SGSINIVGTPLAVRALTPVSIAHGTPVMRLSMPTQQASGQTPPRVISAVIKGPEVKSEAV
AKKQEHDVKTLQLVEEKPADGNKTVTHVVVVSAPSAIALPVTMKTEGLVTCEK
Sequence length 593
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RUNX1 regulates transcription of genes involved in BCR signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Likely pathogenic rs747574524 RCV000590991
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 37774680
Carcinoma Hepatocellular Associate 26968954
Carcinoma Non Small Cell Lung Associate 36172678
Drug Related Side Effects and Adverse Reactions Associate 32028672
Hypoxia Associate 32028672
Neoplasms Associate 26968954