SP8 Sp8 transcription factor
Gene ID: 221833, updated on 17-Jun-2024Gene type: protein coding
Also known as: BTD
- See all available tests in GTR for this gene
- Go to complete Gene record for SP8
- Go to Variation Viewer for SP8 variants
Summary
The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
Genome-wide association study of bipolar I disorder in the Han Chinese population. GeneReviews: Not available | |
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available |
Genomic context
- Location:
- 7p21.1
- Sequence:
- Chromosome: 7; NC_000007.14 (20782279..20786886, complement)
- Total number of exons:
- 3
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SP8 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.