PRAME PRAME nuclear receptor transcriptional regulator
Gene ID: 23532, updated on 5-Mar-2024Gene type: protein coding
Also known as: MAPE; OIP4; CT130; OIP-4
- See all available tests in GTR for this gene
- Go to complete Gene record for PRAME
- Go to Variation Viewer for PRAME variants
Summary
This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Genomic context
- Location:
- 22q11.22
- Sequence:
- Chromosome: 22; NC_000022.11 (22547701..22559265, complement)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PRAME variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- 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
- SNP: GeneViewSNPs linked from GeneView
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