TBX18 T-box transcription factor 18
Gene ID: 9096, updated on 18-Sep-2024Gene type: protein coding
Also known as: PUJO; CAKUT2
- See all available tests in GTR for this gene
- Go to complete Gene record for TBX18
- Go to Variation Viewer for TBX18 variants
Summary
This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA. GeneReviews: Not available | |
| Congenital anomalies of kidney and urinary tract 2 | See labs |
Genomic context
- Location:
- 6q14.3
- Sequence:
- Chromosome: 6; NC_000006.12 (84732496..84764598, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBX18 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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