TRPS1 transcriptional repressor GATA binding 1
Gene ID: 7227, updated on 12-Nov-2024Gene type: protein coding
Also known as: GC79; LGCR
- See all available tests in GTR for this gene
- Go to complete Gene record for TRPS1
- Go to Variation Viewer for TRPS1 variants
Summary
This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study (GWAS) for bronchopulmonary dysplasia. GeneReviews: Not available | |
| A mega-analysis of genome-wide association studies for major depressive disorder. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder. GeneReviews: Not available | |
| Genome-wide association study of periodontal pathogen colonization. GeneReviews: Not available | |
| Trichorhinophalangeal dysplasia type I | See labs |
| Trichorhinophalangeal syndrome, type III | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 8q23.3
- Sequence:
- Chromosome: 8; NC_000008.11 (115408496..115668975, 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 TRPS1 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
- TRPS1 database
- Variation ViewerRelated Variants
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