SPIB Spi-B transcription factor
Gene ID: 6689, updated on 22-Apr-2024Gene type: protein coding
Also known as: SPI-B
- See all available tests in GTR for this gene
- Go to complete Gene record for SPIB
- Go to Variation Viewer for SPIB variants
Summary
The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.33
- Sequence:
- Chromosome: 19; NC_000019.10 (50418938..50431314)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPIB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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