TP73 tumor protein p73
Gene ID: 7161, updated on 12-Nov-2024Gene type: protein coding
Also known as: P73; CILD47
- See all available tests in GTR for this gene
- Go to complete Gene record for TP73
- Go to Variation Viewer for TP73 variants
Summary
This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ciliary dyskinesia, primary, 47, and lissencephaly | not available |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1p36.32
- Sequence:
- Chromosome: 1; NC_000001.11 (3652516..3736201)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TP73 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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