EBF3 EBF transcription factor 3
Gene ID: 253738, updated on 10-Oct-2024Gene type: protein coding
Also known as: COE3; OE-2; EBF-3; HADDS; O/E-2
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- Go to complete Gene record for EBF3
- Go to Variation Viewer for EBF3 variants
Summary
This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of sleep habits and insomnia. GeneReviews: Not available | |
| Hypotonia, ataxia, and delayed development syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-12-06) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 10q26.3
- Sequence:
- Chromosome: 10; NC_000010.11 (129835233..129964274, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EBF3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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